id subject predicate object category agent_type aggregator_knowledge_source knowledge_level negated original_predicate primary_knowledge_source 5536a71a-fb2e-45b3-ad40-6169660c43aa CLINVAR:586 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4294d851-b800-4bab-9e52-5d296d2cac30 CLINVAR:586 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfa1a4e5-90f1-4e8a-ab25-c4fe138684d1 CLINVAR:102844 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9272d617-3411-46b1-bb7b-45d97bec31fc CLINVAR:102844 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f875dbb-7af5-4827-808b-f21aa878610d CLINVAR:102736 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09303a4f-ae91-494d-bb92-580f290b16ce CLINVAR:102736 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5e59ddc-720f-499a-a597-2725aa5b3361 CLINVAR:102705 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0d500e4-7923-40d0-af5c-cd479e7a8d73 CLINVAR:102705 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31bdff3c-654e-4d40-8204-91537f554496 CLINVAR:102518 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 19fe77d2-5626-4e72-ad7a-bd335e227508 CLINVAR:102518 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 838fa402-24a6-4ded-ada7-993a62f0bd5c CLINVAR:102498 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8033f91b-e666-41b5-8b2f-4679a3372c1a CLINVAR:102498 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 302c82b5-c261-475e-9d4d-967c7ddfae53 CLINVAR:102475 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be45f32e-5674-4164-8042-cc7a7d07390d CLINVAR:102475 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 466345ec-9e3e-4d0c-851d-79e8ef972d0b CLINVAR:92752 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fb28610-37ac-44ae-a624-26ada2d37820 CLINVAR:92752 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9af5deb8-0e02-4ecf-a01e-8516af53c4f7 CLINVAR:581 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ba14b9f-4a21-47f6-ae9f-47ade9088006 CLINVAR:581 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e6b9674-8ca6-43dc-bfb0-35f711492adc CLINVAR:102693 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74d7750f-67fc-4000-8f0f-1a6d0540132a CLINVAR:102693 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c42f3d2b-1c50-44ab-9bc6-bb477faa8aac CLINVAR:102723 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2700c278-3d1a-4e94-a01e-9c547a40f740 CLINVAR:102723 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fed7a1a-2b93-43f1-b177-0f0d11d6a253 CLINVAR:92737 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20fd914b-00e6-47b9-8a35-7807a8151769 CLINVAR:92737 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71bf3962-eac5-4fa6-bc75-1364e5cc0c98 CLINVAR:102742 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40fd31cb-e317-433f-8411-a0c8f9b7355f CLINVAR:102742 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 464ba422-550b-4ebf-8a88-c3384a1a4a81 CLINVAR:92746 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7eb0144-5388-492d-be6e-569efabe976d CLINVAR:92746 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f99b16da-fe6e-4891-8842-069dfe366355 CLINVAR:92741 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 789effa5-8347-438d-ab41-dbd18d47af22 CLINVAR:92741 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65ff32be-b52f-4db9-9d75-c1ac0faa2a85 CLINVAR:306914 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1f784ef-8a0d-4699-a342-5bfdf06b8ad3 CLINVAR:306914 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd1adc03-cc59-41a6-b4b6-d465bdaa68fd CLINVAR:102703 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c41ebcc1-0a3a-4292-a15d-340567008eee CLINVAR:102703 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f06ea89-4252-42ce-abd2-45203acc85d9 CLINVAR:102687 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0746835b-5fd7-464f-9a18-a0c74871dba5 CLINVAR:102687 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 261dccf6-c14a-4f4e-9e10-a8957c2d0523 CLINVAR:102716 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0fcc7365-06c8-46be-a439-7861c1757e40 CLINVAR:102716 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f85946f-b0b6-457d-bec9-88d3beda1a3e CLINVAR:102601 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d79a6c37-98eb-4279-95c5-cbedbbd6eaa4 CLINVAR:102601 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caf44fe9-49c0-4cc7-b9d0-ed75791e9541 CLINVAR:102729 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c9e4d97-658a-4239-98d8-807cf9836f27 CLINVAR:102729 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7369aeb-f68c-44b7-9249-6a64333ea022 CLINVAR:102871 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a1648a6-eff5-408f-a391-7996023a9d0e CLINVAR:102871 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e12b93bd-c3ba-4a26-8e28-9e4e65c85ae6 CLINVAR:92743 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen adec83c8-d048-46cd-9db1-a0804c864cdc CLINVAR:92743 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc23f375-c815-493a-8a9e-27a5c3d5bb5c CLINVAR:102706 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3efd7740-e4b9-4335-9069-a9632fdf7c72 CLINVAR:102706 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96cdafde-fff9-441c-b05a-27a6420d6d9b CLINVAR:120273 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33756637-49d8-4836-8d51-3fbe83721b8b CLINVAR:120273 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f26098ed-313f-4632-ad92-0e18f0ddf221 CLINVAR:92729 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 349257ac-1aa4-4ac0-8ea4-4ec60599f6c4 CLINVAR:92729 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daf4e462-4f5d-4ae8-94bd-39baabc3698e CLINVAR:598 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b9c34cf-3624-4273-a3fc-590bde91bcd2 CLINVAR:598 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen addbb811-a8d0-4d76-84ab-b8af43b617f3 CLINVAR:636 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f3db9c8-b7d2-415c-8373-9f2b15b42540 CLINVAR:636 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11b697a1-e66a-43f1-8cf2-526ad58eb629 CLINVAR:120287 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8af11dcf-6000-48c0-8ffa-d77bd891d674 CLINVAR:120287 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca4724d9-60dc-4f01-802e-373c97c88f5e CLINVAR:92740 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9402218-79b3-4ad0-bfe6-484ec57deeaa CLINVAR:92740 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba56fa63-46d8-4bbd-96be-95925faced8e CLINVAR:120271 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 702f2b71-99d7-4ac9-91e4-e48fe8ebdd11 CLINVAR:120271 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f822fde3-f039-476d-bace-f5b51cb1b950 CLINVAR:225135 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 70a48344-79f7-424d-8e14-ba59017afd72 CLINVAR:225135 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9554d633-70d5-4a30-bd14-047ce66b9140 CLINVAR:102821 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 750f0c89-3968-4b11-8a92-3d46a8f67b51 CLINVAR:102821 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 216b1d17-f887-466e-b0c9-504ad6f3bb56 CLINVAR:603 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2503b242-ed09-4836-9e5e-3e375394f3d4 CLINVAR:603 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a7c406b-f072-4d57-9488-b3271cffbee3 CLINVAR:599 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a62f01cc-f669-40cd-abf9-44aaa1ea39a4 CLINVAR:599 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c243959a-c9aa-44c4-8994-ffcbdc9c908a CLINVAR:632 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bcf14ec8-22db-4e1a-9970-129d5cdd61fc CLINVAR:632 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26de7fa9-0545-40c6-90be-6e516dd0d156 CLINVAR:102483 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 94c99953-9036-446e-95d9-c3282cba4247 CLINVAR:102483 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d65badd2-8e0d-4d2e-b126-308dc2200e63 CLINVAR:102557 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0d8b436-87a0-495e-b278-280ef560579c CLINVAR:102557 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b7a6adc-7101-4db3-bc89-24f369554958 CLINVAR:102696 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d6d4364-6330-4a68-bd6a-cc47bb7d1acb CLINVAR:102696 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97e429da-97b0-4058-a69d-8a56ccb401ec CLINVAR:102913 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46c200b1-af80-4dad-a387-ab750f875156 CLINVAR:102913 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e3aedfc-a86f-426b-8743-f6429c2a9967 CLINVAR:281073 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6bcbe7f9-60c0-4ee2-9e39-409ba639728d CLINVAR:281073 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5941caad-f67d-4845-9404-d983dadff808 CLINVAR:439228 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e8e86091-22c6-4dd8-88c3-833f0723a17c CLINVAR:439228 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a458950c-623d-49c8-978c-d1db4f028355 CLINVAR:92742 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ffd49e1b-d782-47f0-b654-9aa255238d83 CLINVAR:92742 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e082641-86f4-4c36-910a-af5c0d01ae91 CLINVAR:577 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 723c3d2b-58b4-4f91-9865-14eb2bb004d8 CLINVAR:577 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d21c8fff-04fb-4afc-bf9f-4d24ddfd08d8 CLINVAR:596 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d54ba8c9-5b21-4906-9806-8bc97e8a006a CLINVAR:596 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51b8e89f-2b11-4a57-9cb4-8f9ce7609ddd CLINVAR:102650 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 760e7a70-29c4-4306-9593-035ded68bcff CLINVAR:102650 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9d25b15-1bcf-47f7-8cd2-64279a1e7373 CLINVAR:607 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05c7c4b7-e052-449d-a837-a9a825ecf596 CLINVAR:607 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08d6a445-a46d-4987-b0b6-223326a1edaf CLINVAR:617 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a508b221-8602-49b5-98fd-4aaa8e448e23 CLINVAR:617 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3af46d1-fac0-44c5-ae61-8bb03a4c3c01 CLINVAR:610 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed4a5d20-9ec8-4d38-a6c0-b0ac5542efd4 CLINVAR:610 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45512527-b28f-47b5-84b7-eee41b09fb89 CLINVAR:576 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06f676f1-d82b-4807-bbfa-f6e6f4e1d9bf CLINVAR:576 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a556690-84fe-411b-866a-e99f958216ae CLINVAR:593 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0d88013-b9bc-4a15-8d21-2f86641e36a3 CLINVAR:593 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3d70c49-020e-4089-b39d-0c65cf419f00 CLINVAR:582 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eaab4b9a-1a86-4eaa-bd16-5b86f2357dfb CLINVAR:582 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb1e12ed-6fe9-42df-a04d-413200e5a1d3 CLINVAR:592 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 33d06154-fe9b-4093-a0aa-db9f85289c96 CLINVAR:592 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cc696b9-91c4-40d9-814f-997f36ac95ba CLINVAR:102632 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a766b2b-554b-44cb-9ae8-e54004b43cf0 CLINVAR:102632 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51c60c67-1e41-46ff-b7db-046302803469 CLINVAR:612 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b894bf58-eb82-46d9-94bc-7ff72da58f89 CLINVAR:612 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5b30645-a38a-49be-81cb-0f422eba9051 CLINVAR:376937 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5db89cb0-84ff-48ef-a29c-f8dd7d5066e9 CLINVAR:376937 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 647031d5-f6e2-4d27-8c31-c817ed8d63c7 CLINVAR:619 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c693a252-eec5-4532-aab5-7327505cfe4b CLINVAR:619 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a197de22-2f2d-4ff2-a59a-b6cdd5421475 CLINVAR:102784 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a11ab8bc-2fcb-40ac-a3f2-d9b328541a24 CLINVAR:102784 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 354dd954-e55e-49a7-921b-1f086596dc20 CLINVAR:628 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 229b8bcf-7e4f-45e7-80ba-da3e6bd740c4 CLINVAR:628 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77873b87-6e9a-4875-9ed9-cec97e56d843 CLINVAR:594 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04e71030-4f1f-4b8c-a1ef-316e157c85be CLINVAR:594 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 991cd04e-a02b-444a-b37f-0f3d246d3079 CLINVAR:102803 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ea9877b1-3a01-4e94-a344-6d32aa87ef1b CLINVAR:102803 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0a698bd-c1ed-4d02-afe5-6f332464653f CLINVAR:102804 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen afcee470-d29a-4a29-8474-4e9bc61e28f7 CLINVAR:102804 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 858a6df1-1817-4336-8b27-64ec17cfffc9 CLINVAR:92731 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ea1fff2e-9b75-47a7-a01f-ece6fc3e9d0b CLINVAR:92731 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f62e12a7-1507-450f-81ca-6e04ec18f2c2 CLINVAR:601 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78d36c76-62e5-4d39-ae98-27094d3f6d4a CLINVAR:601 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68dce08b-992a-470a-b631-98328889b9e7 CLINVAR:625 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 67514010-a422-49a8-af8e-77a9589bd7d8 CLINVAR:625 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdc68a6c-8be7-4fe8-851b-d5a58bfa4610 CLINVAR:92751 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05a9a518-3827-453d-9fed-eb7fb5d5ff6e CLINVAR:92751 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae3787dd-4d7e-45b0-9d81-c7f2cbd45b40 CLINVAR:588 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd9102a8-33b9-4991-8a90-69c89cb30c93 CLINVAR:588 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb4bc728-587c-45fb-9158-07adec97f61d CLINVAR:584 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 896702ba-1cfd-4cef-8591-dddc964aaa9b CLINVAR:584 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95c788a8-3b5f-493b-a8e1-23afe4db0eb8 CLINVAR:102824 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de5e0d73-4105-46e4-af16-799da7eac864 CLINVAR:102824 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4093809-0657-455b-9314-de91fac4c3f3 CLINVAR:92747 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d6223ae4-d68b-435c-b2d9-d00ee32c99ca CLINVAR:92747 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 519dcc48-b60a-4451-a495-a2cef0ede959 CLINVAR:92753 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a836a37-06fa-4d5b-83a9-a639519f060a CLINVAR:92753 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ab37b22-d0bc-4fb9-ba1d-71a6ad3ae347 CLINVAR:618 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c14141b1-cbac-4a46-a157-56faffe1faf3 CLINVAR:618 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f973468-209c-42f4-be71-29baae5bb553 CLINVAR:102720 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0f3b4ff-831d-49df-b59a-e081e9aefd91 CLINVAR:102720 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b0fd5ec-f2e9-4fe2-8e82-a1e9d64b1390 CLINVAR:92744 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ad8035b-5022-46d3-a567-185d077b3924 CLINVAR:92744 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68d403e1-6987-44ca-b110-a7d7f1950f6d CLINVAR:102698 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 26fc3e78-2da7-4fcf-96a5-fbc5211c0243 CLINVAR:102698 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f76c2841-ab9b-40e3-b690-e0bc0ec9146d CLINVAR:595 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 901351a8-38a7-46bc-bd17-27b95a34d806 CLINVAR:595 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b3a0480-e9c7-4c8f-a9e3-d3e1e9128904 CLINVAR:142269 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3bb7f7bc-c8ae-479a-96f3-43ed1936e333 CLINVAR:142269 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6eef62e-33c0-4923-a340-d24bb503780c CLINVAR:185989 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c711cbda-42ea-416a-b7cc-6e4c8369d343 CLINVAR:185989 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ec4b759-1c7e-4f5d-add5-44f498bbf052 CLINVAR:142681 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4880f2c-d724-4c0f-a8d6-5e14806036b3 CLINVAR:142681 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04201a8e-686d-4cdb-9f6c-0561e5dd5728 CLINVAR:127687 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fad1d236-b096-4654-b613-385ad254da35 CLINVAR:127687 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a90c48b-bba8-485f-8db7-cd57255d6647 CLINVAR:187673 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20fa5a70-8faf-46c3-9e78-52ac54e17965 CLINVAR:187673 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b4fb7e8-39a7-4080-8d94-1b9eb26bdcb5 CLINVAR:7844 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00bda4fc-ea1d-47d4-b537-85456927ebeb CLINVAR:7844 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af2137d2-7c96-409e-8c16-67b598837114 CLINVAR:404147 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e9137d6d-6095-4cb8-9219-73faa1612207 CLINVAR:404147 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d5b1653-93ea-4ae7-8a04-b0346a88e19c CLINVAR:184104 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 692ef70c-8f1a-43aa-a364-048f1fce205b CLINVAR:184104 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35ddb8ba-c9ff-4a22-834a-0fb1e970793b CLINVAR:187590 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a95df3e-f861-4761-8126-9d20314b8388 CLINVAR:187590 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6137fa81-9482-46db-8713-aabfaa345666 CLINVAR:189462 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a032cb8d-d3a2-4a4b-b7a3-12650d4bb4a8 CLINVAR:189462 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7836bc6-7469-42fa-8d51-50608bde4c6a CLINVAR:189441 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d2a2da1-c3c1-4301-9063-f2e513924731 CLINVAR:189441 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4697afa-0e25-465e-9b77-5de149919622 CLINVAR:187657 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a3ad8d5-0d95-4102-8542-f6ff07e7998a CLINVAR:187657 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abd17bef-d8cb-4a9c-badd-19ca355da8bd CLINVAR:185213 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c80fa8d9-1839-4bd5-9151-21d06eee99de CLINVAR:185213 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ef4cfc9-882f-4289-a0e5-f3917e7e0740 CLINVAR:189411 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1728baad-481f-4803-8208-ab3aef9d2069 CLINVAR:189411 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aea9970b-c26e-4fc3-8e1e-a62965cdbbec CLINVAR:141654 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 720b36d3-3516-4219-b8eb-544b9b508139 CLINVAR:141654 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86514313-d6e8-4c29-9ac2-d2cd0a5aeaa4 CLINVAR:141485 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b93c4f1f-24d1-4192-82a1-d9c2c422fd44 CLINVAR:141485 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6575ebc-e400-47b9-9745-322f992785e3 CLINVAR:220007 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd3ed9e6-dd65-4329-8f56-32b1de78771b CLINVAR:220007 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91421cf4-2e3e-459f-8094-1d2c08be118d CLINVAR:404140 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79735883-710a-40d8-abf0-b6dd274ef628 CLINVAR:404140 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 615c3bae-605c-4bac-a2f6-105d7b1702fc CLINVAR:92816 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 95f374a0-b101-44a5-acec-fe2d24e05530 CLINVAR:92816 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b93ae79-d324-4c65-be6a-c17354dc739f CLINVAR:142423 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d1d0fe7-4da4-4c22-b335-fdc1ffc51c32 CLINVAR:142423 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39b208ef-0957-434c-b31d-153a4a5e3090 CLINVAR:183722 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae13c6ff-3f4d-4ce5-8aeb-bbd8e5861c29 CLINVAR:183722 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c022e901-2e85-4704-b374-641004395311 CLINVAR:231916 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9bf45dea-56c0-4348-944f-e8ff25141f99 CLINVAR:231916 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be337b89-da01-472d-ac05-421d03883152 CLINVAR:7829 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 498a7a3d-4124-4de9-bcac-be6de71a1ffa CLINVAR:7829 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 570f0399-bc9f-4bf3-8ab0-07439a037d3e CLINVAR:189406 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e495e7fc-e732-4e1c-84be-214570215b5b CLINVAR:189406 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db0eed0d-5cd6-4005-9804-58a05a68de49 CLINVAR:189500 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0692c1e2-d167-4c82-bf2d-6e2e3b92e84f CLINVAR:189500 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19dd1d93-bec0-405b-a0f1-420ef28cb4f1 CLINVAR:92822 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85bebc9c-f647-4833-b187-8a1732c7831d CLINVAR:92822 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f78db46f-afd6-4bac-859b-3b4e2341bbde CLINVAR:127674 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef47dc79-ec7e-426b-ad92-b3ae256e8ba7 CLINVAR:127674 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95453e3c-55e5-4840-a7e2-88398c95d19e CLINVAR:189424 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3a509ef-589f-47a6-af99-1c545cd65a73 CLINVAR:189424 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c185fba-d4ea-41f6-9072-bbe67a703057 CLINVAR:7824 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4d46419-cf15-498a-bf42-d3e23b93e9b9 CLINVAR:7824 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6131056-66c2-4ede-8ee4-1b61df411b97 CLINVAR:7814 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b3d8454-9413-4324-a94e-4ca464299677 CLINVAR:7814 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 970ab0f3-114e-4d25-a523-2fa413ff6da7 CLINVAR:7834 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97284fb0-568a-493b-9008-427b1778aff1 CLINVAR:7834 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17592ed9-fc00-42ab-a4ac-ea11097c9d4e CLINVAR:7815 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ff16e3f-6987-49f6-9947-ece16e09cc99 CLINVAR:7815 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32111026-71dd-4cdb-8f39-40b5ef7be49e CLINVAR:7816 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 475e073a-0b50-43ef-8c61-2d099491478f CLINVAR:7816 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 380c1170-e607-4f5a-aef2-28340db26710 CLINVAR:142220 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1550ea1f-a357-47b3-b4a2-ec55252aeb48 CLINVAR:142220 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 141d2378-dde6-4d6f-be8a-a516c060f998 CLINVAR:6613 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3b4ca95-0d4a-431a-ba18-96f6912912b7 CLINVAR:6613 biolink:is_sequence_variant_of HGNC:2180 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d00034dd-2bc8-4ed2-bb9b-fa128a33251c CLINVAR:585322 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 291e55c0-9168-4e66-b9b5-c01297e44c0d CLINVAR:585322 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe53f26b-018d-4bce-9fc6-030cd67bd780 CLINVAR:585327 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea4c203d-1e26-4102-841d-a3406faf3d6e CLINVAR:585327 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6e5372a-496c-442b-b546-c9aa84eec8e0 CLINVAR:17014 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c20a5f7d-656f-44ab-b267-f9fead9d6df1 CLINVAR:17014 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8dfcf23-b8c4-4df7-b95f-c2571490c3ef CLINVAR:505302 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b46c76df-f04c-4524-abc0-ac795e69b240 CLINVAR:505302 biolink:is_sequence_variant_of HGNC:6298 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9538932-6a8b-4557-a74b-b7051b193277 CLINVAR:17004 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 12612605-6afe-4b07-8439-cd6fd87e73a1 CLINVAR:17004 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b33158ee-6647-42b2-b8e7-1c19db478aa0 CLINVAR:44740 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed1ac77e-6016-40ec-832e-a44774e610df CLINVAR:44740 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73ac64c7-ae6f-4ff6-bc40-a7387e43306c CLINVAR:177859 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d43e509-42fa-4b70-9c09-782dac520eb0 CLINVAR:177859 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4c185c6-eaf4-446d-9be2-bbeaa2e90e50 CLINVAR:506273 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b5051e0-ce76-4cb7-a4d9-83d22cb3b215 CLINVAR:506273 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3bd6e5b-9948-406b-b19b-ccb6a3b2a55c CLINVAR:166499 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d545ca0-36e0-44ef-a38c-ac948a51b4f4 CLINVAR:166499 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08db50b9-5934-4f2e-b397-5b97577d5589 CLINVAR:198366 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa3beac0-c943-45e5-948f-e8cd6adf3d93 CLINVAR:198366 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1047016f-46f8-4447-b1bf-5456bd0386b0 CLINVAR:43546 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e88caf0-d39c-46e7-b4d6-34bc33c14eac CLINVAR:43546 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 793e6bfe-a7e5-4048-8d33-f99b0b876adb CLINVAR:179542 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e0ee5b1-4e86-4355-a9d1-1c1ebd4cfb11 CLINVAR:179542 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75ae945b-d6b3-4053-9fc8-5cc78cf25a34 CLINVAR:517357 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f789685e-576f-4017-ada8-fed24a45b529 CLINVAR:517357 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b20daae-79a6-4391-8409-f392625c4c0e CLINVAR:178957 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0265e888-3dbb-4495-8cfb-decb88355a95 CLINVAR:178957 biolink:is_sequence_variant_of HGNC:7605 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a09b777-3053-4536-9212-7183870bdf8b CLINVAR:228491 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 74c8a295-c55b-4949-8992-85dc83fa5724 CLINVAR:228491 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9e8b8b4-cece-4c58-966c-59bde1dc9f4b CLINVAR:161326 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 70f16662-c300-4336-81a8-1c70c9393735 CLINVAR:161326 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 794d6fbe-4e8b-4012-a21b-799a32da6328 CLINVAR:43085 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9db64f7c-a55a-464e-ba5d-fb5092f48e4c CLINVAR:43085 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 214fa72b-a379-4d9f-8cbf-e371a6852f93 CLINVAR:43029 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13bacd06-b2c7-4b3d-b1b3-46773e89f992 CLINVAR:43029 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87fa0633-7b54-4503-b4c1-549ce2b39936 CLINVAR:42965 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d278dce5-f0b2-45bd-9520-089fd4a49179 CLINVAR:42965 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6335b52-5464-44fa-b924-51f047121396 CLINVAR:43011 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2cd1ca24-d9f5-4f5e-af24-69b2a2f32217 CLINVAR:43011 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 163c42ee-608a-4ebb-a071-010f2f219e8d CLINVAR:43005 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 519d98f2-e8c3-48a4-aee3-2b2028b1a0f0 CLINVAR:43005 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59125450-7aef-494c-af6e-3647561efcc3 CLINVAR:43003 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bdd43b6a-abb2-4434-962d-6805b120bb4a CLINVAR:43003 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62485991-e238-4074-8b4a-d0fcd9d6ad0a CLINVAR:42992 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22e22889-a067-4340-917b-638c86334774 CLINVAR:42992 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 910d167b-5117-4c88-ac24-d57de8e68fbb CLINVAR:164294 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10e6baa4-d69c-4b73-9e8f-d77e8a33ff77 CLINVAR:164294 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de56c57a-0dcf-44d6-91df-d92df0f81179 CLINVAR:43088 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 732fffe4-2294-49ff-adef-bc4365e63226 CLINVAR:43088 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f58513ea-153d-40ce-b5de-51cbda6c25eb CLINVAR:42968 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b3a829e-433b-4191-991a-537fd2bd1cb7 CLINVAR:42968 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 913c72a1-d0e0-4aa9-b67a-9159c34e76c3 CLINVAR:42950 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6eeecb2b-5ed9-4996-8018-1248ba835de7 CLINVAR:42950 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56a426e7-d0e6-4a9d-a988-a970bdbabdc3 CLINVAR:155814 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2015912-28c3-421f-ac06-8b3dc2226fae CLINVAR:155814 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ad0c3dd-c82e-406b-af5d-9093f947fbb3 CLINVAR:177753 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3409f65-432c-4dbc-b482-d65b497e6fea CLINVAR:177753 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d99145b9-48a8-4d57-82c2-8d414e8e4900 CLINVAR:42934 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 25845b53-815b-42ee-b364-8871cff839ae CLINVAR:42934 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 556eff6b-124f-48ec-9188-ea2c73bf0717 CLINVAR:14097 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f4bbec4f-8e47-47f7-9867-b9134d87f10e CLINVAR:14097 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6de4e142-1673-4e2b-9ea5-ea54c193b25f CLINVAR:14125 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3eeb7a1-42fc-4e17-b2c0-2ac7858da5ff CLINVAR:14125 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42680c9c-930b-4432-89b5-5ce575622e06 CLINVAR:42922 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4857975e-c932-4d9d-97d2-c7908ea2bb4b CLINVAR:42922 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a628fdb3-ca85-42ec-94df-fc75ee184ec4 CLINVAR:14120 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d238cba-7514-4241-8b5b-95bfe0bc810c CLINVAR:14120 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6817bfce-4505-42aa-a541-3501b32c4ed9 CLINVAR:177757 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76276e8b-adb6-446a-9068-0697d7ef7d19 CLINVAR:177757 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef5dd5d3-01d1-49a2-b0ad-1db27a306a89 CLINVAR:42913 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 46ef3856-891c-400f-88c3-af30e28ed844 CLINVAR:42913 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3f238e3-999a-47a5-b808-2e056a082351 CLINVAR:42910 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aea54f62-e086-4c68-8374-d05dca5974eb CLINVAR:42910 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4773af8f-c1ea-47f4-8419-2cdf31b9e364 CLINVAR:177665 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f300e478-5311-4f06-9f55-c527bb281c67 CLINVAR:177665 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5555496f-968b-422a-8728-cb4cdab282b7 CLINVAR:14098 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0e9c953-eb6c-4239-bcd7-2afdbc423920 CLINVAR:14098 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c050127-89c7-489b-9883-1ebf00b0f500 CLINVAR:164342 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a7c5d33-5bc3-45f8-baab-55e05c3d99c1 CLINVAR:164342 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03fc1ed4-46e6-471c-a180-325bfc567f18 CLINVAR:14095 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e878a40-9600-472a-9079-78dc61ccaa14 CLINVAR:14095 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2793a760-ce9c-40b2-b4a1-9ed552d2f447 CLINVAR:42885 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52b86d5b-1b1b-494b-b6f7-c27547f32d1e CLINVAR:42885 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 624d21e3-77f3-469c-90e1-5bd9b17c06c0 CLINVAR:43076 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba692120-8081-4fe8-861c-4449a632b1e6 CLINVAR:43076 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b2d2c22-2466-4a23-907e-787fcd79d7cd CLINVAR:43069 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e47c3e7-c8a9-4220-9f9a-0192a0338ec5 CLINVAR:43069 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6c31977-69fd-4990-a6df-8c1a00ade7c3 CLINVAR:177697 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 289488cf-f432-4d2b-8b07-1e705930e8d9 CLINVAR:177697 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64ebbee9-b930-48ed-b0ab-5b6e23c80033 CLINVAR:177629 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29f70f06-9333-4114-8095-5fc879c35ae5 CLINVAR:177629 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77be9f58-6444-44c9-8dbc-c6d80e741c17 CLINVAR:43059 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50ac1c29-31bd-4f7d-927f-4b3668343027 CLINVAR:43059 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0193e8e1-810f-49d6-a6c2-da3aa73cbef9 CLINVAR:14107 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb4c2c8b-eea5-41f2-b44c-6d31ed137ead CLINVAR:14107 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1f2ca17-a393-4d4d-b7e0-b4cfe63c0a8f CLINVAR:14104 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d991705-996e-46a6-9ff3-68b78e8bf42b CLINVAR:14104 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91b58460-d7b1-4597-aee6-8358d35a8241 CLINVAR:14105 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54fcd095-90b4-4157-ac89-6340771b2263 CLINVAR:14105 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d893b2a-4ee6-40e4-8741-2a95a5fccbb3 CLINVAR:42875 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3bed1bb-ad33-48e6-8107-f417c1585270 CLINVAR:42875 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05480d60-27f9-46d4-9caf-4fff16705612 CLINVAR:14090 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be250658-7e29-448e-9ee1-bd711443e6a1 CLINVAR:14090 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4b7c527-6749-4a06-a386-d93dd0bd9544 CLINVAR:14108 biolink:causes MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f192b64c-756b-485f-be77-cf250c0746c4 CLINVAR:14108 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 723e5f18-3ad0-447e-a257-cf4a16f43065 CLINVAR:36642 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5633ca2e-be94-43e2-a70a-7a5ef15cc6ce CLINVAR:36642 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 333460b2-7591-4412-a019-f3ad783ccfbd CLINVAR:177817 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28e6d0f9-33e5-4ec7-b0f3-2c44ea4ace02 CLINVAR:177817 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3db422ca-12c7-42b4-9945-25d13f1bf57a CLINVAR:14087 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1ed516b-d4e0-46a4-9f7f-b32f90cf82bd CLINVAR:14087 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 044dfbe6-9972-4b2c-b19b-eac87b10abc7 CLINVAR:14102 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 581c1545-d6bc-45da-9a06-951ee28d8b07 CLINVAR:14102 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9a9ada3-f437-4524-ad51-25f9875e1016 CLINVAR:42838 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d47d107-bf1b-44ae-8698-c11ea94dcd05 CLINVAR:42838 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac59c214-d1fc-4089-ac0b-3c4a56610d96 CLINVAR:164378 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cb400501-9c1a-489a-a03f-50d0725100e6 CLINVAR:164378 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35187c4e-d512-4aa4-8a9e-7dad5d4e7e02 CLINVAR:42822 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a229ec39-e4cb-4738-a542-0bfe52828dd2 CLINVAR:42822 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac0e0386-38ea-4923-ac31-cb1b4ee37f4f CLINVAR:43106 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10f434d8-7a1c-4cf0-a5ea-b13c7c37cbdf CLINVAR:43106 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6456ee95-bd43-4b84-a22d-688a8c0d8e95 CLINVAR:43006 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9526be15-f05c-406c-874b-5b8731c6add9 CLINVAR:43006 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe726787-c283-40b2-a324-4a5283db0939 CLINVAR:40649 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7daa26d7-0be5-4666-ab8d-5c26cd7c8751 CLINVAR:40649 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0839f0b1-298f-4d71-a55d-a6ad0a5c6ed8 CLINVAR:181528 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4bec655b-1594-46c0-861a-7706ffd07bce CLINVAR:181528 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8242628f-178e-4b06-a658-3a0772923512 CLINVAR:40634 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e973ffb-9c5e-4946-a303-b8bfbde43e95 CLINVAR:40634 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebd995ab-cb9e-4340-bb93-440b16e8f49e CLINVAR:6821 biolink:causes MONDO:0054637 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 32981635-90fa-4d5f-8e0d-51ece88916b8 CLINVAR:6821 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 520ea6dc-6ae0-4af1-a28a-a94d0485a383 CLINVAR:40601 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4a7285b-4cc6-43f2-88c8-1a688019cab9 CLINVAR:40601 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2648f49d-4e25-4279-9341-46e1743e4b0d CLINVAR:40607 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43f085f5-91f6-40ab-946d-49861a892231 CLINVAR:40607 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d54784e1-6a0a-4960-8592-6547b4529745 CLINVAR:40600 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 92ff97ff-2e77-4ad9-90f0-3f69034d6cd8 CLINVAR:40600 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c29db04a-22cf-4592-9f84-9e165fcf024a CLINVAR:40613 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 899e43d1-07ed-4085-83d6-4b6e2b51d095 CLINVAR:40613 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d802f4b-6b8c-40a3-836d-47b84391f0fa CLINVAR:40614 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f6dac40-04a2-4045-9b60-37cc8fd56170 CLINVAR:40614 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24e599a7-6664-42be-9032-0eaceaabfd76 CLINVAR:40520 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96be47f7-8634-4073-bd9f-2be0d5edd8cc CLINVAR:40520 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0630720-83e1-4a27-beaa-a80421fcb2d1 CLINVAR:40567 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb793f2b-c45f-4e4e-9e8c-cdde25c697ea CLINVAR:40567 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7689f030-1504-4390-86b6-0baf4949647f CLINVAR:40522 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eaf07c89-2b3e-4d54-bd22-d12b17ec71a5 CLINVAR:40522 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8d5a595-06f3-49f6-9396-3aa629e66846 CLINVAR:13344 biolink:causes MONDO:0007893 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2bfc315c-3a61-466f-8ec7-3082f4ef08d2 CLINVAR:13344 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83fbbe73-0ea4-454d-9a9c-c1afb1102e5e CLINVAR:40504 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6d01b06-97df-4279-9567-7a7a68fd6eac CLINVAR:40504 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bae18dcd-f7dc-4c07-b623-f09ea7c9b79e CLINVAR:40484 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 525499af-6068-4451-99c3-2c6f9b338fab CLINVAR:40484 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9da05568-180f-4b63-8721-65383a66564b CLINVAR:46242 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6b33987-3152-4a7a-8894-5dfbc966d42c CLINVAR:46242 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen deabf80f-db5b-446e-b9f7-5f24fb369922 CLINVAR:40786 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25123d21-3442-4b93-b4a9-9404fe763595 CLINVAR:40786 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1fc626b-1684-45ad-98c7-696a2a491eaf CLINVAR:40813 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd4244c8-2ace-4de0-8056-e861de0f99a9 CLINVAR:40813 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c920cbc9-73ee-43d4-921c-f4f5d030ca83 CLINVAR:40779 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd702cf4-b3ed-449a-8c2c-cbb6016dd7b6 CLINVAR:40779 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de3e9e02-136f-496c-bfb6-fdb6679735ec CLINVAR:40452 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 47b8bb56-6ecd-418e-8252-34524e167c3b CLINVAR:40452 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df01c806-c4c6-40cd-8c0a-8653f1d8a49c CLINVAR:12594 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7719ad1d-4dc7-496c-8f88-9897f807f6fc CLINVAR:12594 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a270a696-063c-44fd-9f9b-bef17da010ac CLINVAR:40435 biolink:associated_with_increased_likelihood_of MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61cde022-8211-4b8c-ad74-a96ad65bf530 CLINVAR:40435 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3991ac1-7348-43d2-904e-44d513d5f178 CLINVAR:40439 biolink:genetically_associated_with MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9eb5df8a-3c0b-4553-9faf-ec67e62a9748 CLINVAR:40439 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3f75b97-f5a4-453d-afbf-da4eeb612aa2 CLINVAR:177672 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 368c9dca-714f-43d9-9362-c6b14f4eabfa CLINVAR:177672 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d45790d4-c18e-4703-b55c-be2801ea6790 CLINVAR:40380 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff4720d3-cea5-403d-86e8-c7c1f360fd74 CLINVAR:40380 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08e69f40-a6ce-4fa3-8351-3cd1329f61c3 CLINVAR:40387 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a64b369-60a2-4538-a7fc-330347e5e071 CLINVAR:40387 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6239798-f8ff-4f2d-9098-9adadf85bde5 CLINVAR:12586 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96c7dee5-5806-45c5-be50-951661b6b9d5 CLINVAR:12586 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d611ed14-1655-430a-95c8-ba79e0ffe4c5 CLINVAR:40454 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75b259b4-72cf-4ece-a27c-7baa5bf9412c CLINVAR:40454 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 153e80f9-45f4-4a80-9183-6aa3209a4102 CLINVAR:12587 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb35ac22-4c3e-4348-8a95-b6843f30e403 CLINVAR:12587 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a153f5bc-5bc1-409d-93bd-0e2a89d67a83 CLINVAR:12588 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d51b1127-a8e8-4969-9694-6d53567869dc CLINVAR:12588 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1297012f-cf08-43dc-a465-3a22a21481e2 CLINVAR:12589 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2451ff9b-8d95-49d8-b796-8d3ed71248db CLINVAR:12589 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 566f23d7-cf31-4dfc-8d95-9bf598a2bfde CLINVAR:12610 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7aa72ab8-b0b2-4890-8f38-c910cdfc6d0a CLINVAR:12610 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6fb87e0-34e9-4ea4-a2bb-4ed9495ba339 CLINVAR:12602 biolink:causes MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 074b516e-2557-405e-9c9f-37957a0f4496 CLINVAR:12602 biolink:is_sequence_variant_of HGNC:25430 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93d79c76-97c4-41c7-a1da-b29b41cbb109 CLINVAR:12605 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a222299-c81c-4289-b980-6c6e10d0a0fb CLINVAR:12605 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53e19aae-c683-45f8-bb21-53c022727ab0 CLINVAR:12606 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae0ee1dd-ec99-4f16-acfb-664902fc9c37 CLINVAR:12606 biolink:is_sequence_variant_of HGNC:25430 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a524dfc8-6532-4fe7-b6b3-5b9fe80f203c CLINVAR:12871 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c029aa6-0f90-4b34-a3f4-e9a6b9b01e68 CLINVAR:12871 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acab5589-e0f8-4115-9ac5-979a33031b75 CLINVAR:40678 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0c4d42e-baef-4912-8289-873246eda7b6 CLINVAR:40678 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55d1b0c9-6159-4ae6-b168-5ad1dcec6529 CLINVAR:40662 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b632b646-d5c5-4b24-b444-0f3854fcd931 CLINVAR:40662 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3a0ff7f-2e40-49cf-beeb-3f015db58027 CLINVAR:40706 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 721a8894-7569-4e9d-88a5-2b32d4aaba2b CLINVAR:40706 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1a75ac9-6b56-4a72-9193-908931570fc1 CLINVAR:40651 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 146c74fa-a0e8-46e7-a53e-1acddb5056d2 CLINVAR:40651 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2886d03e-7ffa-4918-869f-9fb47a4687b6 CLINVAR:13957 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d15b1aa-7bed-4edf-9ddc-b0eadf48ead4 CLINVAR:13957 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 679f302c-34de-4f66-9935-5b6319460c99 CLINVAR:13958 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7dd53c13-b93c-4507-a4f7-79faf8a15b96 CLINVAR:13958 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f0d2a56-3638-4f77-9937-c4022cdc82a8 CLINVAR:13960 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8dee468-c506-4086-96bd-20296b4282e3 CLINVAR:13960 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 203bdb13-992c-4f9f-a172-00a74d6453e7 CLINVAR:21342 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2ccd69ef-35a3-40c8-b371-d8e58f7e755a CLINVAR:21342 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6786e4ec-18ca-4b45-b003-65121b2eb33e CLINVAR:40599 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6fc6c8df-ac21-4c1e-9aeb-c8700075c661 CLINVAR:40599 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a802242-4782-4836-922f-93ae49120c80 CLINVAR:13326 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 454cecce-b0c6-47ce-92ac-e1c645fc330d CLINVAR:13326 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85297d3a-6d9e-42e0-9602-61a9fa4f9015 CLINVAR:177868 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe54fa10-9cf4-47c0-be05-df1f1f3d35b3 CLINVAR:177868 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ca6830f-0330-40e3-bf47-4f1b8aff5031 CLINVAR:8274 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 729594b7-7f2d-44a8-9627-5edb092a3271 CLINVAR:8274 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0ee011e-470c-4b7b-bae8-c9cb445bdcb1 CLINVAR:8272 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4609b22a-b68f-43d5-8f79-52187eaf1511 CLINVAR:8272 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51843ff1-36c4-4100-9ef6-3540fb71e882 CLINVAR:8275 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c262882-9f13-4d25-8639-538a9bc028c0 CLINVAR:8275 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a72fb7ab-9316-4d71-95d0-af9283840a60 CLINVAR:13350 biolink:associated_with_increased_likelihood_of MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 27b12bcf-50b0-4ab7-b840-6e57ae62b670 CLINVAR:13350 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3787778c-ab11-4009-9395-d26621971a26 CLINVAR:40781 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 333db046-7dfd-4c38-b536-8142e3d6c760 CLINVAR:40781 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e51d9ee2-e7a9-437c-b1e8-2cad17b2a7d6 CLINVAR:40747 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1fc20812-67a0-4499-b0c4-7a38a8a6d914 CLINVAR:40747 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df99fbd0-cc1a-4531-a6fd-f3c0b7cf624b CLINVAR:13351 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cbdf436a-0c14-452d-bec9-6297da4da737 CLINVAR:13351 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e56a913-fa97-41fe-a08a-67b0839f9c88 CLINVAR:13979 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a374b2b-939f-48a3-953d-b87474e1fcf7 CLINVAR:13979 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 587fa0cb-b2f1-4789-899b-1e14b5c89c2b CLINVAR:13965 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc4629e9-17fd-4dbd-b22e-332c98db5513 CLINVAR:13965 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9de8a79-d22d-4269-8554-203bc63b54bb CLINVAR:13974 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d415eb28-7301-4fd9-afc6-52a5f8707608 CLINVAR:13974 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c36535d6-a9ba-429d-97f7-34f5fb788ae5 CLINVAR:40346 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4bdb048e-b0d3-4b44-b18e-0cadd4060f90 CLINVAR:40346 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0fb20e3-3589-4ce0-b5b1-f2fa4b519a06 CLINVAR:44588 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 335b68fd-4fc8-4666-b3ac-49eb4b991f0b CLINVAR:44588 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6697c9d-0f09-4941-a778-8553c4390b31 CLINVAR:13973 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 221c70a1-2215-479f-9ebb-7c7d86a7f048 CLINVAR:13973 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13027796-49bc-4de0-9c93-1889858fd282 CLINVAR:599655 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ec893b7-3aa4-4bbd-9d73-338046fb1bc2 CLINVAR:599655 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbcd3402-8d60-4c46-a819-b6c2f38b0de1 CLINVAR:418841 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0cad065-71a9-42bc-84f2-476efcf451f8 CLINVAR:418841 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df804fcd-f161-4d9f-b612-f47e4951eadc CLINVAR:140871 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3c27c46-e162-4a05-a83c-28447c978072 CLINVAR:140871 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b707f326-9d3c-42b6-8616-c36c374bd718 CLINVAR:496233 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9857ca08-5cbe-4650-a1cc-2a9754d0a145 CLINVAR:496233 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f3e8806-df3c-4ff6-b6a8-5284069c7e7f CLINVAR:599651 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d6c7f02-5a06-400b-8aa2-0125c481b15b CLINVAR:599651 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4db2ad6-af69-4160-9d4d-4b8398dbd9fb CLINVAR:136055 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 289cb4da-c0de-4f85-a013-fcebf25bb808 CLINVAR:136055 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12f1d045-eb09-42e6-bd16-225f321ee4c8 CLINVAR:463775 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 480990f6-f6ca-4ace-829b-be6dbd7abf11 CLINVAR:463775 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10866c64-78b7-491b-9362-92762431f270 CLINVAR:156496 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 786c4d5a-8bff-4232-9334-9e71c71cf5f5 CLINVAR:156496 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f146dd16-0ffe-4620-8e77-411c75f364f9 CLINVAR:599653 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a15e2de2-4f15-47a4-8d5f-e3a15e762d02 CLINVAR:599653 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 714cfe3c-6c8e-4c81-a225-4716ed7cd2eb CLINVAR:599656 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88d65a80-2de2-4f06-9992-b08aa90c6813 CLINVAR:599656 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82cc9e3a-7451-4cde-89d5-98acc3a36512 CLINVAR:239914 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74262d51-c540-47db-ad4c-a1477341afa0 CLINVAR:239914 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a04681cf-a427-462b-844d-6241cf478994 CLINVAR:599652 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f3e03c4-d323-410d-b629-3a39d1ada65b CLINVAR:599652 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16593fd0-44ba-4aa4-83cd-574ecfe85e4a CLINVAR:156497 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79d04687-43f2-49f9-8a72-ce6d095b21b2 CLINVAR:156497 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a41ff4d8-db96-4bd7-aab2-7e1437472149 CLINVAR:156499 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3c85ae5-0047-4cb1-b5d1-9f1098d3ea55 CLINVAR:156499 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1736f1a-c0c7-42e7-93fc-f21b958d84e7 CLINVAR:449341 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52b6faff-9b82-4469-bd7f-1e987c455c42 CLINVAR:449341 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee7e3001-f96e-4437-9de8-b8c65c804df2 CLINVAR:599654 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67af9df6-fea5-45e8-a8fe-1661f7f536e0 CLINVAR:599654 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50f01541-f3e9-4b06-9ad7-554977f61dde CLINVAR:486824 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 561d527c-9f5c-40d3-a7a6-3a6dfade2580 CLINVAR:486824 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c147b53-2d98-4d46-ae6a-a85e8987861c CLINVAR:239913 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67094d4b-01f8-4aa9-b420-bfe519b5c7ca CLINVAR:239913 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d494cd31-526d-4497-9b2a-77535287f7e2 CLINVAR:479504 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c7cf67e-cc67-42cd-97ee-34af3b8e06ea CLINVAR:479504 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2656cb8-22fc-4f52-85eb-6705ee1929ca CLINVAR:479488 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cebdec80-5072-4953-b9ee-387fac05d8c6 CLINVAR:479488 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b76053c8-e2c3-4247-80a2-29060e015157 CLINVAR:234554 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1162bedb-951b-4c86-b3ba-64fe2dca6767 CLINVAR:234554 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8247a1d8-0fdf-498c-a816-4a23bb82d580 CLINVAR:239906 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a326bc4b-2325-4436-87ce-e757c32828d8 CLINVAR:239906 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 802edd05-1d69-440d-b3b9-378e9e068c1a CLINVAR:483264 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa033849-6f48-4762-ba76-ece3e10dd530 CLINVAR:483264 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 969eddfa-67cf-4bd6-82f0-ce3f547bea91 CLINVAR:12241 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d78841e1-5f29-4d9f-80da-abf571330e11 CLINVAR:12241 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 167a3b33-df16-45b8-ad12-384d4fd8fcf0 CLINVAR:231647 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8c0881f-c155-490a-9272-993361497e89 CLINVAR:231647 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c2cfe2f-87d1-4dc5-8609-f3a9edb66f30 CLINVAR:187464 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01d31a01-4092-41fa-86cf-62355551c5ee CLINVAR:187464 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fd3ff8b-4c5a-47a9-9fe6-e2c927be88cc CLINVAR:18453 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 929ba1f4-6eea-4a32-9ac2-b4e7a1379eaa CLINVAR:18453 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40ad4100-c413-4bd1-b311-43b3bda1c0e3 CLINVAR:406663 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f405da8-9828-43c0-b39e-ae367c9e2b40 CLINVAR:406663 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2654260-587d-41a9-bdb6-92e8dd519832 CLINVAR:177763 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65084a84-3611-4827-820a-d1194a9c22f9 CLINVAR:177763 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 133f049c-785b-4362-a208-99f537fac324 CLINVAR:7826 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3da22fc7-d2bd-4c0a-b5d8-80beebd2ad64 CLINVAR:7826 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e9160c8-d7d4-431d-83ea-319a534c9be2 CLINVAR:185713 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 362e0e87-1c5e-46ae-9853-963f8578bfbd CLINVAR:185713 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8398ab5-84af-4fb6-a38e-94910b32c47e CLINVAR:7830 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d3f63e22-2bf6-4312-9155-170ff8aadf3c CLINVAR:7830 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b044482e-01c4-4c3c-9a3b-8793476b3717 CLINVAR:7831 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2fb83df2-810b-4078-b3a8-0b0f576d7dfd CLINVAR:7831 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69560301-1a18-45d2-b176-98b4b33803c2 CLINVAR:7828 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ab64a60-b432-46e5-9f92-0847fdac2e6a CLINVAR:7828 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82240130-4a05-4efd-8d60-32550ae70cb3 CLINVAR:7823 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b2d550a4-3e31-4a88-b6fd-fcb5f53d63f9 CLINVAR:7823 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14249f31-1763-4da0-93bb-ab54e01cac91 CLINVAR:39668 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d99275c-6b02-431b-a9a5-8444e3affaca CLINVAR:39668 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 204d76b9-81cf-47a4-a69d-f05336c0bdf4 CLINVAR:140807 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1e3b938-a4d0-44c8-9f26-2f2a2d6ec887 CLINVAR:140807 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ed58e97-0212-40ed-9393-f90b9aaf8a45 CLINVAR:92820 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65d1d088-5c4c-4920-816c-bb3df003a637 CLINVAR:92820 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 379e42fa-ac00-4723-ae7e-15809ce8364b CLINVAR:39669 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ea60155-1c49-4c3c-bc87-895d190dcc8a CLINVAR:39669 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bae022b-46dd-4787-ae41-f9d081b6cea2 CLINVAR:428271 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed459b10-ff4f-483b-8a71-bcd7a73b44b5 CLINVAR:428271 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0350a23c-3dc9-4987-b72f-538bcc62364d CLINVAR:428274 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 102e046d-48a9-4871-b7a5-b6bf6bef1453 CLINVAR:428274 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e0376a3-7ed7-486b-b64f-14ba13355b23 CLINVAR:7841 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 325a8652-efa1-49c8-9fef-55fbade276e1 CLINVAR:7841 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d074a33e-abc5-4225-9018-31d66b4bad0f CLINVAR:7849 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c808a36-b20f-4d90-9611-43210b862271 CLINVAR:7849 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e38c9b8b-cea9-4dd4-b04f-e98743e2250f CLINVAR:7839 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f15db3ae-82b9-4533-a578-7f38c9de3318 CLINVAR:7839 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f33ec969-0ccc-4567-a705-398111725c3c CLINVAR:7850 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39dd6df8-7a0b-4920-ab3b-04c0e3d5f5ab CLINVAR:7850 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cff5f6f3-01e7-4cec-b5bf-530edbc1f303 CLINVAR:7848 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f55f82cf-b69c-47ec-b827-7c15eb3a7a6a CLINVAR:7848 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 819d298d-1536-48f8-81b1-d0dce1ecbcf3 CLINVAR:552907 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5048ae77-c5da-49c7-adad-3d098d7f55db CLINVAR:552907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fe1e7fd-58eb-4fc0-a143-f1e57b15b6d5 CLINVAR:619167 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d864e57-22dc-4e6a-be85-7b23b491e027 CLINVAR:619167 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33674274-3eb6-4a54-afb2-9b78bb3d0b56 CLINVAR:102567 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 228b01a1-4f4d-4477-a9ac-640f8320f144 CLINVAR:102567 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 170a90a0-92dd-4a4f-addf-a2fb25af7f6e CLINVAR:551555 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6295a28b-c8e1-4b7b-8f26-ebd3d2d2a798 CLINVAR:551555 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef3bdf2a-e366-406e-ac74-495f9109ec82 CLINVAR:102526 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2714b262-e52c-4672-8d85-374fc6c4a321 CLINVAR:102526 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78b385fa-c281-4bc0-8ea8-7c9966efb3af CLINVAR:619161 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3fab6dbd-aa0f-4a7e-ba9d-43476aa2a5af CLINVAR:619161 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 268ce494-0506-4b8e-93fb-49aa1ac07e60 CLINVAR:102525 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec8c3ad2-5d40-49db-8306-632c177d56f1 CLINVAR:102525 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fd6893c-c6cb-4ff2-813e-083adeae77ef CLINVAR:619153 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62c15c41-a3d9-43de-a38a-8162604a66fb CLINVAR:619153 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a3fe7ab-1cfc-49fb-bd30-fa128279043f CLINVAR:102726 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0eeb4cd-431a-4931-8b16-1621ea536a0f CLINVAR:102726 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84d71066-2ed0-4414-947d-16365780ca2b CLINVAR:627 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 46888547-fe3f-4481-b211-688fc72e80bf CLINVAR:627 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78b79d40-7c30-41d6-b58a-0293256e77ba CLINVAR:208180 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 327b2e79-2364-4d6f-8b09-f7d015646059 CLINVAR:208180 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cd4beed-93a4-4226-9286-c34e026490df CLINVAR:225133 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ceea2f24-fc42-49ca-8bd7-5d43cbc3e9a0 CLINVAR:225133 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9b2136e-948b-4dad-ad1b-ed7d42b5f946 CLINVAR:633 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c91a1be-3bcd-43e9-be83-5430ed54b0cf CLINVAR:633 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe69a618-a705-45d4-8862-d9f4fa5be854 CLINVAR:102905 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen abbe52cf-e747-415c-b6f9-83e15f72f8bb CLINVAR:102905 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b72237a1-8807-4ae3-b6de-db8e1c63e54b CLINVAR:619151 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69985051-7edb-46d6-8448-66630d135175 CLINVAR:619151 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab52a73d-f365-4fce-8d98-46cc704b8efa CLINVAR:619162 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ebaa7d54-e20d-4982-b9b0-1f1b09ef934e CLINVAR:619162 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b80ddffb-eb0e-4b2a-be58-3e6cad0ef705 CLINVAR:619155 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6b87311-bc5b-449e-8961-520e9351e8c0 CLINVAR:619155 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98a43181-e3d4-4be2-be74-e33addd7ac3e CLINVAR:619157 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dfb40d3c-9b48-4d6c-814f-14e135872ba9 CLINVAR:619157 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b7bc8ba-f1d1-4a57-b304-d68767fc5842 CLINVAR:102882 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ef99ea1-3def-4800-88f3-585fc6f71805 CLINVAR:102882 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be3bf7e3-0411-4530-9e6c-99bc1e48f60f CLINVAR:102881 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd062410-62b4-4032-b6e9-9a7f00380e51 CLINVAR:102881 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9056fcd-5333-4a06-8521-c58b64e34ac3 CLINVAR:619164 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e5fe23e4-99c9-4a54-bbd4-6c4a99aa0f67 CLINVAR:619164 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7be64726-eda1-47e4-9ca7-f17b75a73fcb CLINVAR:102880 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac3175c4-ee48-42e3-a91a-e834c4ee046a CLINVAR:102880 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e09b71d-4cdb-4394-8300-8d892a7e5a19 CLINVAR:102877 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97336181-9634-4efd-90dc-3d5ff9b37071 CLINVAR:102877 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdff2efc-172b-40ee-99eb-57c4127102aa CLINVAR:619158 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 637eefcf-308e-4166-8d21-6c3073c4066d CLINVAR:619158 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6140e89-8198-4e5f-b141-4083bf06de71 CLINVAR:619149 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7bb915a2-76ce-4504-b489-a0970bac39d0 CLINVAR:619149 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5ab5a52-705a-4f74-813a-819e70b8d9f9 CLINVAR:619154 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ca058c4-4fe4-40d4-97e4-a9fd179eadad CLINVAR:619154 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f202eba4-754d-4806-9149-cecdba765d5f CLINVAR:120279 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54044988-8b4e-4fda-9a0b-deba0be325f5 CLINVAR:120279 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22b50aec-c842-425c-b7e0-88b0bae2843c CLINVAR:102694 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3bc04e2-f519-4bbb-92d3-95a252eb2b42 CLINVAR:102694 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77a8effc-e572-4b84-98ed-5c1c8f1cf254 CLINVAR:102667 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7fc9275-5c3a-4f25-a159-dcda74b70a63 CLINVAR:102667 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0c4ad14-aeda-4ec0-9934-22f556d3ed18 CLINVAR:102658 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb29181a-6b78-4a91-a285-22c2f42737ae CLINVAR:102658 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cfe256e-894e-46bc-9f17-738608ec857a CLINVAR:102620 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 811fccb9-54f1-40b9-ba55-12aae872c30f CLINVAR:102620 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de0fd0c8-f25f-4c46-894b-566709935cfe CLINVAR:102619 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3a17b16-e605-419c-86d5-511564378a70 CLINVAR:102619 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1c9a13e-b7fc-4670-807e-ee98e831b95e CLINVAR:102616 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2accc2cb-04b5-4b55-bf9c-f9499f3c9513 CLINVAR:102616 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15e12a0c-bb1a-42db-b6e1-f9a1837c5b04 CLINVAR:120266 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 14e15912-0c5b-45de-823e-b3576b431c5f CLINVAR:120266 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2b7e6d6-fe0c-4d3e-b900-44283b2c29ff CLINVAR:619156 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a254e253-1a5c-4a60-b817-246ff0485bee CLINVAR:619156 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98f91cd1-ab17-48a1-99f5-4a66787736ee CLINVAR:619148 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0682a0b7-7843-4441-b8e1-06d6553fcb9a CLINVAR:619148 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8aea9ec-4d11-461e-b3f8-d80cf5595337 CLINVAR:619152 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b9c27cc5-52b2-4ef3-afa5-9fe6a7231de3 CLINVAR:619152 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2240e412-3ec8-4964-8ec8-583bcb711c62 CLINVAR:102850 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 712e8ad6-9d9c-4f29-85af-db0cae7abf76 CLINVAR:102850 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8cdc8c0-61c0-4196-923f-ba4457f2ab2d CLINVAR:102849 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen efdb7d1a-9489-42a3-8871-4935e20f85b4 CLINVAR:102849 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1644f40-c60f-4738-a5b0-33167be554f7 CLINVAR:102623 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90bfa6a1-62ed-4253-b23a-ed1b99347643 CLINVAR:102623 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0ca7409-871d-44ad-a3a7-f7c436b50ebb CLINVAR:102817 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdad53b3-cd9e-41dd-98eb-53c7d83807a5 CLINVAR:102817 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 876f8233-53a9-4085-b92a-ffa53b083cbc CLINVAR:102816 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d634f61-940c-408c-988f-32228b837184 CLINVAR:102816 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd000c2d-285c-45ed-83e2-725a676c6635 CLINVAR:102815 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b86219f0-c8fd-49f0-abc0-c1438b946af6 CLINVAR:102815 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b67a513-f309-455e-a228-a9cac7f02f1b CLINVAR:619163 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 67d2ef19-e504-4b38-99f0-0a87d2a19dff CLINVAR:619163 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6153306d-d0e7-4ba6-815b-8f38a266cce8 CLINVAR:619160 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5a7e5789-fb5c-4473-8ad4-824bc1339bb5 CLINVAR:619160 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54f6480f-6820-4fc3-a2cd-ba7e72770950 CLINVAR:619166 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a889d377-2132-46bf-b702-28afd8a3a234 CLINVAR:619166 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae4bf072-2085-4e03-99ec-d3f19f84b857 CLINVAR:102772 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 192093c3-8ea3-4d6e-b1e0-abd7aaabf6e1 CLINVAR:102772 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b4903cf-c223-470c-8a2a-d8a96e59d61a CLINVAR:619165 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc2704fc-86c7-415b-8c06-a8e38443f014 CLINVAR:619165 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c43a9e6f-7a2e-4636-bcb0-03650db0f6b2 CLINVAR:556296 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1886af05-c08a-4686-b3a7-d7e14743b5ca CLINVAR:556296 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 167a20c2-c044-4bc3-9996-5f41f3b8e71f CLINVAR:102841 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e51c5ae3-5269-48d6-a55c-26f1dcb5d66d CLINVAR:102841 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84deaf73-4c1d-42d4-aa14-d5fec5070b1f CLINVAR:102840 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 80ed4a54-3697-4aa3-ab02-da39fbc05e84 CLINVAR:102840 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10ca24aa-4ea6-4349-856c-40902604d2b8 CLINVAR:102839 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 527e27a2-e4e0-4259-9aec-38792a7f4cef CLINVAR:102839 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 242890f8-95e8-43fb-8868-a1440733d0f1 CLINVAR:370701 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60516f46-b006-4ac5-a6a7-d0726a8947b5 CLINVAR:370701 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1bcb6e4-ef3d-4a55-81a3-4aa744966b7c CLINVAR:120258 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e12cb7da-e4dd-4d0e-ac61-92ceeed75f81 CLINVAR:120258 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e4f4dcd-5e16-4ad7-83c1-bfd7541935b1 CLINVAR:102767 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65b01bdc-7ba0-449e-92c5-b446ad26e70b CLINVAR:102767 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99efdebd-ef8b-482a-9024-3242348e3ca5 CLINVAR:102604 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 473955f6-ff66-48e8-8559-eeda0190421a CLINVAR:102604 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e96a4a52-7c8e-4154-8859-94b5913184d6 CLINVAR:102588 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 62b4b089-7c31-45fc-a5bf-72b25c537108 CLINVAR:102588 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fff49d9d-53e6-4246-b2e8-c44e775e2df9 CLINVAR:102857 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e209ac6-cec5-44c1-8123-ba407dbea413 CLINVAR:102857 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee9653c4-492a-4bd4-9f13-f7e88d85ea3e CLINVAR:102856 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8fd5a771-762f-49fe-9154-c8a1be5d7f2f CLINVAR:102856 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07b6dbdc-d8ff-4a29-9ed0-db0a2182f772 CLINVAR:102854 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e2aa045b-fe9e-4bbf-b458-852f5deb1262 CLINVAR:102854 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d0400ce-d5cc-43c6-b289-970bc47aa15d CLINVAR:102853 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49b9c666-49d8-4b97-a4a5-f8d12d4433fc CLINVAR:102853 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 872cbc6f-e858-4449-9c64-636c056cec4b CLINVAR:120286 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ae3e707b-4b17-4415-ab15-b6302b9bdc32 CLINVAR:120286 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80b8d13d-ebed-4c2a-8ca0-dc95993b6ffa CLINVAR:619150 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af6077da-cc0d-47ee-93bc-95ee39098df7 CLINVAR:619150 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04f5bcb6-3224-40b6-aba3-c920615b4b1c CLINVAR:102833 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fc5240c-c9bf-4706-bb2d-6fabc9ee1cb2 CLINVAR:102833 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25f744de-11c5-4ec9-b06a-b93fda190c5c CLINVAR:120285 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 75c11b7f-a56f-4b00-921b-3c487985bcba CLINVAR:120285 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c36ff53a-f069-4d66-ad8b-4868a1f98e4c CLINVAR:619159 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 443af137-2d58-4417-be36-69110a191a8b CLINVAR:619159 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81746350-db41-49ac-a3d8-cd3987fabc9d CLINVAR:587 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8edec46f-e8dc-4d5b-a541-b2d300b99048 CLINVAR:587 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56851075-3121-41a9-8680-c2be1f196443 CLINVAR:102842 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 755144b0-539c-4cf1-a194-391938775b7a CLINVAR:102842 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a256528-6647-4f98-9279-71d22798ee06 CLINVAR:102823 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc5cf7b0-5a20-480a-af16-a05bd076c94d CLINVAR:102823 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e435d34-43dd-4ac0-8027-edec813d9237 CLINVAR:589 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e246f61-c469-4654-9ff2-a8063fdce5cb CLINVAR:589 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e86b504-95a6-40da-b70d-ffd9da81c647 CLINVAR:92749 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f32e1abd-9578-439a-866d-f1087864bc62 CLINVAR:92749 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b9a7301-aba8-4c87-bd13-1256a52005ee CLINVAR:46014 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd9b50b4-2d1e-4a35-83e6-a184008ef05b CLINVAR:46014 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad42d7db-e37b-4f23-9109-63ba33e350b1 CLINVAR:6611 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c830db60-111b-450e-b9bd-51243fc08053 CLINVAR:6611 biolink:is_sequence_variant_of HGNC:2180 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fea9be1-37b9-40a6-a2d6-22e8cd89ff56 CLINVAR:447450 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9c14adb-8a7e-4b7e-9486-57cc09b8e5e6 CLINVAR:447450 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d34f732-b713-40f8-83e3-bb4bb6e8f3f2 CLINVAR:555720 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26049b18-62c7-4dea-bf61-f24aea36c40c CLINVAR:555720 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3303d9f-3efa-4d62-8c76-dde0a3b70adf CLINVAR:17002 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10f5fb44-aafe-4f4a-b635-cf9f972b2dbd CLINVAR:17002 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96cda8d7-ff32-47a4-a16c-3c9fb2541fa3 CLINVAR:4840 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40f9ec28-4817-454d-92eb-2c1c5a925967 CLINVAR:4840 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 919b1c2d-fd8b-478d-b9ed-f0f84517b133 CLINVAR:17010 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58464aa7-6b8e-4146-9a4f-96e6e2b70f3f CLINVAR:17010 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55d6cb63-d949-4bba-88f1-26073b3dbae6 CLINVAR:375406 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 558549c6-099a-403d-85bd-106c011cd4a2 CLINVAR:375406 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5faa0443-db47-43d3-9649-0d3f2ccf1aac CLINVAR:43555 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96b04ab4-c168-49d0-97d3-c9d16ee86611 CLINVAR:43555 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faeecd36-4d58-4e9d-8623-20a7de7d2df0 CLINVAR:48535 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b5065c5-3903-42c6-bd78-73b4b3b0f2d0 CLINVAR:48535 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7975c22-c609-4571-89b2-3bdc2c352221 CLINVAR:6241 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 361194c9-6a9d-43f9-8e9a-23ae3b77ce89 CLINVAR:6241 biolink:is_sequence_variant_of HGNC:6298 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3be3016f-e12c-458b-b1aa-175248d08163 CLINVAR:43498 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75a3e975-df78-45fc-86aa-dec82706d4d3 CLINVAR:43498 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3b1b4ae-b9f6-48bb-85a3-dd60c6662b3f CLINVAR:4835 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd208ba6-039e-4355-830e-70bb2017efc5 CLINVAR:4835 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7d55ee5-8dd6-4185-8b46-2c9ac54d0937 CLINVAR:166504 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 830f4932-06c2-4fb3-9b05-b2e7d0afea4e CLINVAR:166504 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7716d4f-7946-4d06-92ba-056ae53a7b5e CLINVAR:2353 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d0c5d71-3e37-46d0-a538-551e26048554 CLINVAR:2353 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4725097-a795-424b-8f6b-6f349065c512 CLINVAR:48604 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad8dc895-d329-471f-9d86-8d63d01aa62f CLINVAR:48604 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bfc8113-0b50-4d81-8ec7-6fc087d97dc1 CLINVAR:43565 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bbf185ab-6435-48c1-9fd1-74ae59acc006 CLINVAR:43565 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63fe1535-da2c-41d4-89d3-ac8258ecb9af CLINVAR:48347 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b9be149-6ec6-4d75-8c10-20dd8ff7b133 CLINVAR:48347 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62fd513b-0f07-4054-84ee-f6bd856c5421 CLINVAR:197510 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a06b45a-a863-4459-bf22-e661c41ba248 CLINVAR:197510 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26f23c53-e6df-43e1-8029-4df9ad20a3eb CLINVAR:189148 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 491a576b-6244-42de-b72d-34ddb980d344 CLINVAR:189148 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bce83c69-8521-4068-b26e-babf8357d529 CLINVAR:449088 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4512dcee-82f3-421a-b76e-c2e4bfa1e933 CLINVAR:449088 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30cb94bd-7d9d-4301-9ce1-797f693bee1c CLINVAR:102661 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 20c806aa-952e-4bb7-9240-2b6e4f226578 CLINVAR:102661 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bff5cd91-15b7-4c14-bce8-c1639722b32a CLINVAR:102858 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1da9328b-34ba-4cba-9b55-5792eb43af57 CLINVAR:102858 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e4004eb-c95f-45e7-b656-67da7fa100a5 CAID:CA16020876 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2bafcb23-2522-4b7c-b7cd-3958eb68f266 CAID:CA16020876 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 033762eb-9cab-43a9-bef1-3ada24a054f0 CLINVAR:102889 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen abb6ebf4-8b29-410c-aaa9-061908fb005e CLINVAR:102889 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05605243-e35d-4cd4-a5ca-a02663ccda5b CLINVAR:102584 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd5f047d-3f1b-4770-8eb6-2becf2537ca5 CLINVAR:102584 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc4a6876-208d-4885-b94c-c444a272c3e3 CLINVAR:120274 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de5e44e8-135a-4cba-8e5a-d39e10cbf7e1 CLINVAR:120274 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be6bd65f-3364-436e-a039-deaeb2695f12 CLINVAR:102689 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b4e67d0-5766-4304-8af3-4675e07c2fa6 CLINVAR:102689 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b151e82e-da3b-4d6d-9efd-ee5e1352f031 CAID:CA16020719 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f23cc728-daac-417a-9656-d8e824f5d366 CAID:CA16020719 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b61ccd03-fd2a-4611-b197-76cc56342232 CLINVAR:557124 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10f20645-3777-454c-b51c-b3f268624d61 CLINVAR:557124 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be8e0601-8df9-46ab-a1f1-e6ba6c95b3dd CLINVAR:102744 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b78d5288-2476-4ace-9a6c-0cd8ba25144e CLINVAR:102744 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8295637-6668-4e2d-a5c0-5820eb1a5db9 CLINVAR:102581 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 781787b9-913b-4fbe-a657-b301a5fff989 CLINVAR:102581 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c27e39bc-e31b-4934-addf-6ca84d8a902b CLINVAR:102660 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cff0f441-c9e9-4071-b20d-b4ea3d5fd005 CLINVAR:102660 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79856a04-122d-4e67-ae44-6d3bd914c3e7 CLINVAR:102686 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06641c82-1c73-499c-9a1f-146cde0db650 CLINVAR:102686 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c7f2304-7ba0-4de8-b91e-9ffbc6bfd526 CLINVAR:102700 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b37a2f68-a00a-464f-b267-aced044ab2e9 CLINVAR:102700 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48aec5e3-6e8f-4bdc-b673-df9ad32e18b4 CLINVAR:102701 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04817267-ec45-482f-b9dd-32b45c78c78f CLINVAR:102701 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa9ab1ff-c6e6-4e1b-bf11-c21fb8f954a8 CAID:CA16020800 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eabd7380-72c0-48db-a699-f21fff0b55dd CAID:CA16020800 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70b6c593-36dc-45ab-8870-e650dca27a3b CLINVAR:102702 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8f5677f0-63cd-4203-a164-209ab3e7ba1f CLINVAR:102702 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab05f115-b7e7-4511-8d21-2372464267fe CLINVAR:102721 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1dc185df-6288-425d-bb30-a6b93d1371d5 CLINVAR:102721 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e6f081a-0dea-4e58-a017-79a855dcfc10 CLINVAR:555366 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a680e82b-de89-4798-b61d-f6d7ed7b9172 CLINVAR:555366 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 829c1c4c-3442-4b17-8379-5d9db213ea31 CLINVAR:608 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7735b1a1-3d10-4fb4-b8b7-a343a591eb49 CLINVAR:608 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1a4c5d4-ab4c-4f8f-9bc5-4cf8a1163eb8 CAID:CA16020761 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b47a333-2966-4861-bbb8-9796d4f219a9 CAID:CA16020761 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f159c84f-dca4-48e2-b9e8-43c4b733366d CLINVAR:102873 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 571ed813-d70a-4269-ae3a-e502ec4ae69c CLINVAR:102873 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fb6034d-c0a0-4385-a579-24d35588c3b6 CLINVAR:102869 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3807dfd7-d395-4773-a9b9-f822476734ce CLINVAR:102869 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee06580a-43e2-4d24-b209-c8c5435fb7f7 CLINVAR:102670 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d62e8f29-774f-41dd-918a-d94e13e3a298 CLINVAR:102670 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b05243fb-f092-4903-a8eb-94d61541bc6b CLINVAR:102735 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 001ffbb1-daa8-4265-8880-ae1888ea7801 CLINVAR:102735 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e2ec4a2-50b1-4d26-a354-a08958849897 CLINVAR:120280 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cce1f8e5-9a88-4b3d-9e95-730d14208f16 CLINVAR:120280 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f889d619-35db-43bb-808f-e94f8022d5ef CLINVAR:133314 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 486fa806-7f14-494a-81a3-cb94c4fd0bdc CLINVAR:133314 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5edfe6cd-4c31-4d95-a5c9-1129993a41a5 CLINVAR:597 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 57fbf3a5-01e3-4b5a-a0fc-802bdb63e2c8 CLINVAR:597 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 953f983c-9bb3-4207-a0b4-0455b197a0d8 CLINVAR:120265 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0e8339e-5101-49e3-9126-4db0b3a827f6 CLINVAR:120265 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14c40314-edd0-4b47-96a7-9ce642f27fc5 CLINVAR:102605 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 87e76308-e3ad-43e4-9320-c8c03f08d58d CLINVAR:102605 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c42a996f-6def-4f11-a8a2-686236e81afd CLINVAR:120270 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 66215412-e666-4ae5-ab07-75370bc22d8f CLINVAR:120270 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1036bfb6-a11a-4460-a468-abab9e0cb783 CLINVAR:120277 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8970e19e-d141-457a-b2ce-a6cfeb7c486e CLINVAR:120277 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cb792ef-f930-49e7-b99c-fbd0227ba073 CAID:CA16020871 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 983ded9b-13a5-44f1-b4ba-44f75913182f CAID:CA16020871 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4d72754-7359-481d-b30f-e3af9bfc477c CLINVAR:208182 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 331daaf3-9e94-47e8-951a-235d5aab2707 CLINVAR:208182 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf294f3c-e8f9-4027-9486-410da666b6dc CLINVAR:40447 biolink:genetically_associated_with MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 898741fb-8df2-4938-a667-4a8317dfd970 CLINVAR:40447 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68fbb9fa-5199-4560-b9e1-b0f52dd36099 CLINVAR:40347 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a004a6a4-9ea6-4d2e-bfd4-7245d1a53a71 CLINVAR:40347 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88761a32-e7d8-4d55-b846-03ea4530c1af CLINVAR:40348 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df059244-da98-4906-b803-fd33736d5b75 CLINVAR:40348 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6bf9c4c-f3a0-402e-8eea-c71528adc87f CAID:CA281951 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 858e3fa5-811e-4e11-ab8f-704bfbb30d98 CAID:CA281951 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c62a6062-7130-442d-8d61-ce8b6aeec72b CLINVAR:180784 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3d909b1-2e8b-425f-92eb-bc1db19eb569 CLINVAR:180784 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a131ded-0c97-4b44-be7e-3b4af9fe3d30 CLINVAR:55793 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 16ab9cbd-9fe9-4524-acf0-803c805677d7 CLINVAR:55793 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a85c6de-a0ec-47a8-86f0-6037c5301438 CLINVAR:44830 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4847f9f4-a744-4afa-b44d-fd60cda3fdfc CLINVAR:44830 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95c3b355-1d6b-4936-9907-67ed9552a3c4 CLINVAR:477669 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8a818750-ecb2-4f5b-9e15-45140c5859f1 CLINVAR:477669 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65d5e911-46b7-4635-a904-d8fd60e1828d CLINVAR:40485 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0a58397-a0fa-43ee-95ea-0d03d3f09338 CLINVAR:40485 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66432dcd-36f7-4319-9fba-27d7f91c21ad CLINVAR:543999 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2067aa2-f386-4814-a23a-9f38a0dd156e CLINVAR:543999 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7589d536-3147-44e5-bdb9-97daa8cc9540 CLINVAR:40818 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce27e1aa-4176-4a7c-85e4-6ab1cb38306c CLINVAR:40818 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a79d59a-44fc-4e3c-badd-b409e860f45c CLINVAR:40562 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 788c6639-567d-4f20-a2a6-946092b8cd8e CLINVAR:40562 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfb050d9-abb4-4cac-b142-b67e81f91a6c CLINVAR:40513 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7c9b2c1-d745-48ce-8b62-b5b7412180a5 CLINVAR:40513 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bca8cf1-53db-4ee0-a7a5-755e886f8b35 CLINVAR:17000 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f77c7145-e7d2-44de-918c-1273fbdba28f CLINVAR:17000 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f95abcaf-2f0c-4c14-9b59-f1ad3408a14c CLINVAR:203873 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a0a82ccb-602e-4b24-b3e9-ac165bbe6e2b CLINVAR:203873 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5506ddbf-f021-47dd-b546-99d67a14bd40 CLINVAR:585206 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 57b49b9c-598b-4dec-bc24-21817070aae9 CLINVAR:585206 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 382005b3-3d74-43bb-b525-7395f586e827 CLINVAR:102626 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1fdd7e9d-e927-40af-a63d-13ed925d08c2 CLINVAR:102626 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d044c3e-5168-494f-88d2-0b7d21969848 CLINVAR:102647 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9c6b545-d607-4c09-a2ee-266971ed2e1a CLINVAR:102647 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a308494-ad5b-4655-9a4b-8def8277b13d CAID:CA16020886 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b814a64-f39a-4b1a-88ed-61a8aa6accba CAID:CA16020886 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf546c2d-9f04-43e4-8134-b8e6e97b04c2 CLINVAR:92750 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05c5fc06-d769-49f2-95f2-a7cba34af1a5 CLINVAR:92750 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2e6dd5d-3364-4f0a-8e4c-f4011ebd0c5c CLINVAR:102885 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db6e9d68-809d-4543-bea1-11e44b4b4613 CLINVAR:102885 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1680528e-bd80-4408-9b45-be1a471efae7 CLINVAR:120291 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a80fce2a-d468-43f8-b9a4-92e01f0438b0 CLINVAR:120291 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aff6fc4-3009-48c9-9494-f747a4429393 CAID:CA16020885 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3986dc1-13fc-4eff-97d3-2d7b881bc828 CAID:CA16020885 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20e98455-5602-4bb8-add9-8ce694c93d2e CLINVAR:120297 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42c78ed0-40ce-4ea2-a8cc-dc9b66005790 CLINVAR:120297 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 810a2bfc-98c7-471b-8a90-933d4f90617b CLINVAR:120288 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cea7b298-089f-4fd0-a033-2ff286bae976 CLINVAR:120288 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 579c0912-40f2-446b-a859-ca9b25d22599 CLINVAR:637 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c55c0cf7-7ed2-4ebd-9d74-10f3da750ff5 CLINVAR:637 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff566694-491f-4a88-b64d-bc93f2830ca1 CLINVAR:102884 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b5f0dfe-8a3f-41cb-ac74-b70e60da2b27 CLINVAR:102884 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 404ae684-badf-4358-a88d-36fb2d3d1bb0 CAID:CA16020846 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db18976a-61d0-44e9-bd09-28ec4ed89056 CAID:CA16020846 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2968415d-c6ac-4bb6-a9e1-9a619a19cfcd CLINVAR:102886 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5475f9e-7731-4d74-aa07-ef14accda026 CLINVAR:102886 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 901e6a8d-fb7d-49a6-9d30-23d13b6be98f CAID:CA16020889 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8cbf4220-2ddb-4d3a-bb6c-8d3498098877 CAID:CA16020889 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25129cb6-2087-49dc-b689-297e64484194 CAID:CA346365197 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d340e6d6-6431-437d-a80c-ebf4f127d0d1 CAID:CA346365197 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f05cb761-55fc-4830-a7c2-76a65b92fb91 CAID:CA891862608 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2086b50-0c65-4cd3-a88b-7719998468a2 CAID:CA891862608 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0cc9377-bb88-43dc-808b-dfe3989742dc CLINVAR:45373 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd9132e5-e391-48ab-8653-1822ff38668f CLINVAR:45373 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e56eaf9a-2961-4900-9fc7-4c6aa3e73004 CLINVAR:8273 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5edcd11f-9748-46ed-ae40-8d74f90b58ac CLINVAR:8273 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60fb37de-ae59-4095-a35e-63184da945e6 CLINVAR:13331 biolink:causes MONDO:0007893 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df28c8df-6f12-4d01-8350-6b58b4b02481 CLINVAR:13331 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 605adef6-734a-4b26-9b67-fb558f39eec9 CLINVAR:13333 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 286a1534-ada0-413d-a764-108acf4b997e CLINVAR:13333 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf698330-fb20-42a5-a450-9fa54cc35adf CLINVAR:158604 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4594673-d31a-426b-95dd-bc8060bb85ba CLINVAR:158604 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f88d4162-48f0-4619-8fb0-0f954142ebbd CLINVAR:162956 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b60ef6ec-b955-4538-b32f-fbbee5fd051e CLINVAR:162956 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a198798-4978-4b88-a1c1-82eac9de6d6a CLINVAR:177732 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85d4449c-5795-434a-b9ec-846d283e4085 CLINVAR:177732 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 615f322a-823b-464a-8c96-b0d3b4ac6ef6 CLINVAR:44760 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ce1c60b-aea8-40ff-8499-319dd42aac36 CLINVAR:44760 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70c0741f-8ecd-4ffb-8453-8ac2828d847e CLINVAR:4838 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c11eea67-3ec3-49f5-ab36-cbe949f371dd CLINVAR:4838 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1041e33d-9544-4e3a-9fde-17c4f547ea0d CLINVAR:17023 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3231fcf9-d1e7-40ee-adba-2fb327c7d423 CLINVAR:17023 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ad25844-f548-4bfe-99d5-6273c8dddfb9 CLINVAR:120260 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f016703a-a101-4015-bc97-d16e7ecaa11c CLINVAR:120260 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba079f2b-d36f-4801-ac9e-89be95cf7534 CLINVAR:7817 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8d381b0-6afc-43aa-af82-c482959ad981 CLINVAR:7817 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4a13308-b1fe-484f-921b-27dc2d61b7bf CLINVAR:223142 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 51e41238-63d1-485d-b076-7c19e11d910e CLINVAR:223142 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f60eede2-4a90-4429-8c68-dc55629aa8c8 CLINVAR:375958 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14ef5435-3a56-4a11-9b20-17afff960975 CLINVAR:375958 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c46aba4-4141-4921-a66c-17033bd5299c CLINVAR:375959 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 63b4b318-d7ad-42bd-a316-3dfd5de258db CLINVAR:375959 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dec1919a-1d19-495e-8331-58dc96130ff1 CLINVAR:189403 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b93fe7f-616c-4459-9e6e-9a8710353c40 CLINVAR:189403 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a60e56b-8b6c-4d0d-9412-4ded1bdc9d6c CLINVAR:187827 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6826747-706b-40ca-bff0-1439996a37ad CLINVAR:187827 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41e2b2de-be1b-464d-8ab0-bd80d304e60f CLINVAR:142212 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f828769-b7d9-4294-914f-7f7bf7ccccfa CLINVAR:142212 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57c09973-1773-4e19-93b8-37e22202a3ea CLINVAR:237639 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f88a839-57a0-41b0-b48b-a54ed80dccf4 CLINVAR:237639 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f29d3cb5-3b0f-43d6-af5b-874cfa3970b0 CLINVAR:184466 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afbf1e6c-1dd8-4a01-8cd3-b2c27511b09b CLINVAR:184466 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e9663bb-d48b-4a3f-98b3-c9d82997096b CLINVAR:427623 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3921bdfb-0ae7-4a7b-9909-d4679000c21c CLINVAR:427623 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b586d4c-36dd-432e-bc7c-27cf04d52084 CLINVAR:372481 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d21628db-03e0-4628-8698-3bfd75d962ef CLINVAR:372481 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4f0668e-5c08-4700-a307-280ded47bde0 CLINVAR:372482 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 692a2f13-094e-40bc-b116-89804e779625 CLINVAR:372482 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56c46573-5788-4229-9d5e-ebafaf556978 CLINVAR:184844 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c23704f7-1dda-4069-ac63-17b4ea8aee14 CLINVAR:184844 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34d60d09-8b97-46c6-b8bd-963969aa833e CLINVAR:376510 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b098f062-0003-4b2a-8d88-c8f596250208 CLINVAR:376510 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2eededb-f1ec-4c1f-ad1f-46dbee6f8bd9 CLINVAR:139567 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75111c60-60b7-4ae2-b40e-bf7e8c894cfa CLINVAR:139567 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fc6def0-e516-4b91-a958-906c5c856968 CLINVAR:237643 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b9af089f-0209-4d8b-94ec-4ac2a717dd54 CLINVAR:237643 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae4490a8-9ccb-47e9-92a9-90e359f076bb CLINVAR:7843 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11eb3ad5-ec8a-4352-a4b1-b7227e98449f CLINVAR:7843 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e962e200-609d-40f2-9239-bcc3270ca97e CLINVAR:428216 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e05dc6e2-3034-467e-a37c-9ac367db5d42 CLINVAR:428216 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3acccb75-a9a1-4bbb-b029-0f3bbdb08151 CLINVAR:7845 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16c348a2-fb2c-4be5-8e36-0a26d533c7a8 CLINVAR:7845 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a504e38-75ae-4094-8601-c50e007b4b8c CLINVAR:428206 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3157d51b-fcb9-4990-90f4-5c10476a47e6 CLINVAR:428206 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f087e59-54c3-4e03-8425-59fffa6e638a CLINVAR:7825 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee56315c-985d-40fc-bef4-37761ce693d7 CLINVAR:7825 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a8fa466-1a9a-4f79-a0e0-93dfb94309ab CLINVAR:7821 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09a63a33-1785-461b-a533-54d6974f5ed2 CLINVAR:7821 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 941275b7-7291-48cc-a5b6-52a50bdd9b76 CLINVAR:7822 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9316de3c-3cb9-4ca3-b09e-afc7b4cbb5f7 CLINVAR:7822 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2125267-ac8e-4af5-9109-083f69053b27 CLINVAR:7840 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a1618f1-883d-4399-9123-85682605315f CLINVAR:7840 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7034ad7a-e63d-466f-9602-c2ef7ef46b70 CLINVAR:186427 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 767df53e-80d9-48f7-9e10-b8d3a18ab9aa CLINVAR:186427 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5828e446-0415-4f96-b9b0-0c8c7c892ba7 CLINVAR:142261 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0f76fea-93ee-46c8-8bd3-398137db6556 CLINVAR:142261 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df778054-a6ed-4e39-b085-9a767323b965 CLINVAR:186161 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 033d83aa-f0d3-4fba-87c7-fa8d6af225df CLINVAR:186161 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db3bd5ef-396e-4f4e-bc18-89ca2205ac59 CLINVAR:184878 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fcb345c8-1e50-4412-a8f6-01a96bf16e65 CLINVAR:184878 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08e40669-cbea-4bc0-aa87-a8a9e2bbb74d CLINVAR:127696 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e22d8a9-ff80-4979-a6b4-958e2cf96bae CLINVAR:127696 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ccd490c-b3f1-4cb6-89ab-041bb35d0ce7 CLINVAR:45304 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bcabd9ad-7059-4605-9365-53c0cba55941 CLINVAR:45304 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 955dbf23-fbc8-4a33-ba35-1453f60d0125 CAID:CA16020890 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e86590ee-7d18-4e1c-b6db-e4c4125cec77 CAID:CA16020890 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3acb6565-d3cb-404e-823e-51f2d8d414c0 CLINVAR:376018 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31703e91-e648-4ae4-9989-0a90b338ae1e CLINVAR:376018 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3dd717f-7796-40a5-ae15-9f4e91e69e05 CLINVAR:545522 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5d8ec6c-edee-432d-8779-fc5cbed5cdf5 CLINVAR:545522 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1eb9123-5f57-4717-a914-509d623a89bd CLINVAR:14467 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3cb6949-953e-45dc-84e4-2113429c1ba8 CLINVAR:14467 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dc0203a-ddcb-4e41-b3a6-8d4c1fdaf668 CLINVAR:561222 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 420bbe1d-a76e-43d9-b6b9-45f5d1ad3706 CLINVAR:561222 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b17e5024-3689-4a00-bc92-67b8f5829469 CLINVAR:14465 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef7920e9-58aa-4939-ae7f-78d66732010d CLINVAR:14465 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 374bdfff-6947-4596-b78f-98ba5347c7d3 CLINVAR:429813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7da2678b-124c-4d35-9299-d5ac9ce43723 CLINVAR:429813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fabce61-8ef8-49b3-a84c-b96f6ab03c6c CLINVAR:14468 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6035cd7f-f7b9-4b0a-9b5b-b894815f6494 CLINVAR:14468 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6157327a-e41a-4750-80b3-5cd1ba9964f3 CLINVAR:14471 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce8d0ada-5872-438e-a6c0-b86a97496f8b CLINVAR:14471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9301093a-af9e-4980-8a81-91d112df5b61 CLINVAR:417961 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94b3335e-1714-427f-9858-33e32fc7ae5e CLINVAR:417961 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9021ed13-ff8b-42ab-83bb-398b6efa8ee2 CLINVAR:212089 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41abff5d-8722-4f17-bcf5-88f9f9a671c6 CLINVAR:212089 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31a73eb9-51ad-461f-b622-79f7349a5a97 CLINVAR:14464 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c7d56c71-25c1-4bd2-b6c1-0677f2d3d1fb CLINVAR:14464 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 136b2d77-d0a8-4604-91d5-cbcd078d187e CLINVAR:666273 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc900c03-4aa0-42f1-a124-7b3540c85f0a CLINVAR:666273 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f12ee716-d5ec-4c05-b679-ddf166cf368a CLINVAR:463988 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4dce5bd9-7d89-4115-aa04-6c9cbd335376 CLINVAR:463988 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0fcece5-561b-411a-9c03-65e11e3ddb70 CLINVAR:14470 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c59b1ca-cc76-4b51-aaca-6fdf7c879f21 CLINVAR:14470 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4114bac8-125b-456f-9e2e-10eee0248e61 CLINVAR:436616 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7915da6b-8550-4314-ad9b-fc886c5378d7 CLINVAR:436616 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a304620b-627e-4b33-a79e-0f9a8b2b92b6 CLINVAR:14463 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a779dc67-6b05-4fa9-a864-a695715e0306 CLINVAR:14463 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6708e19-0df9-4f20-862f-2975ca10d3cd CLINVAR:409822 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 984178b3-3666-4a5b-8e15-f3470bd6cebf CLINVAR:409822 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0da830d4-b458-4d14-adb1-f19c88953945 CLINVAR:14466 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49d00af5-f95a-4eac-94f3-0c9fc573fde1 CLINVAR:14466 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d098df3a-d0ab-49e4-94f8-39885b70a824 CLINVAR:532664 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87de81e3-b59e-46ae-ae92-2d9a0437887c CLINVAR:532664 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b08c010-bd3b-4472-b880-4b7818f25bf0 CLINVAR:339874 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3f59bf1-4f62-42e0-aaa1-98f721166a13 CLINVAR:339874 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9e1c04a-5441-4803-900f-03db9570d025 CLINVAR:532662 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d82f4f18-47c8-4cbc-8999-a1e8c6bb93a4 CLINVAR:532662 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72f64086-62b2-4dfc-8452-74e13aad8d01 CLINVAR:436618 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3bedfe1-4d44-4692-8eec-24ecc8630d21 CLINVAR:436618 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50ff6b31-ca5e-448c-bb76-8c30b88aa46c CLINVAR:532659 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 589691bd-b34d-442e-9522-3da0814c804f CLINVAR:532659 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 038de8e7-c830-4b34-8e26-3aebf59bebb6 CLINVAR:561246 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f81b05b-aa41-4fef-b7c7-0415e7d8eb79 CLINVAR:561246 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 342c3152-daa5-418b-91ab-c18b1e297ecf CLINVAR:561243 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8dd899c2-1102-4a1f-b2ee-89f06f5c6190 CLINVAR:561243 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0f97021-7e87-4c17-b8fe-94105af1127f CLINVAR:463994 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb549319-d310-4639-9bbc-f50358c60266 CLINVAR:463994 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3e9544c-ec85-4c19-a9de-f192defb2f5c CLINVAR:532671 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7d1aaa0-8574-44fd-af29-0ad3778bd284 CLINVAR:532671 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34f9e901-4d7b-4c7c-a20c-336ba6ec5377 CLINVAR:436617 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d85a9fe-1347-45b7-8c7c-243fb90b5cfd CLINVAR:436617 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67da4e54-e1f8-42ec-8a14-f1fc6e425461 CLINVAR:561233 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fec6a44d-ed69-4569-ac0b-903287be296e CLINVAR:561233 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 916c308b-0c5d-41dd-bfd6-4a22686027a7 CLINVAR:666274 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9067a2e-a2fe-4f05-aba8-b1855a3822a4 CLINVAR:666274 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1af96227-b8ad-4610-82b5-3a9e1fd1cb89 CLINVAR:417477 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6ec32be8-10a7-4ad1-992f-0b9f937f2a9b CLINVAR:417477 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66a23707-4b8a-49e2-bc32-064191db23c0 CLINVAR:463975 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7084251-47f8-4a78-bcca-3809e86a6460 CLINVAR:463975 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86f8e931-2b44-4aff-9fbe-3fdd158a5d10 CLINVAR:254081 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a20e058-60d6-45e7-9f4b-a89e4456a55c CLINVAR:254081 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b48bc63b-b2e2-4e86-9630-4a7ee461a3ed CLINVAR:120275 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b742e017-05cb-46a5-bc01-0bd62addc765 CLINVAR:120275 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff157ff3-a05f-43ce-802b-7cd6eaf19822 CLINVAR:102892 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 43dc28e7-df5c-4a26-9e32-a73220c23388 CLINVAR:102892 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40707ea5-6921-4c07-b5d2-e7245ff3288e CAID:CA16020877 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b3be125-ccc0-4892-bc78-fc3b83c7c186 CAID:CA16020877 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 787aeef9-01c3-49dc-9431-7a07aadaa935 CLINVAR:125436 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 64de3048-addf-4024-b7cd-b50ba307b84b CLINVAR:125436 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 005d410b-8eb5-4fa4-8a1b-df494951f863 CLINVAR:120278 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d53aa138-80ed-4907-9ae9-72eccc1bc10f CLINVAR:120278 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 141c806c-dcda-433e-9da5-a4e45cb84bd1 CLINVAR:102832 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7597127a-fde5-4663-a47f-5868c2da2699 CLINVAR:102832 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb28d048-6e28-466e-836f-c7605042c00b CAID:CA16020720 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6c7ac9e-9490-4c73-8beb-7796ee5f87a9 CAID:CA16020720 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4ded0f5-2c30-4d68-945a-89fd63cc4b73 CLINVAR:102749 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ccff758d-c77d-43db-8d5c-8d99e24081e4 CLINVAR:102749 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 897fbfde-65dd-4adf-9a48-b6386b02e079 CLINVAR:102757 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ac6cbe0-6b28-41bc-866a-7ac960dd3a4b CLINVAR:102757 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb2c91ac-6e69-423d-8202-3dc0cc405ea3 CAID:CA16020722 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9d3e8a2f-4330-479c-bd39-f34dc42640a8 CAID:CA16020722 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d703ebad-f45a-410e-9756-5c8602dd5f6f CAID:CA16020714 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07ce6aaa-7873-4531-ad31-e72e9d6eff64 CAID:CA16020714 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9258d0d-65a7-4cce-826f-cc535527d3ad CAID:CA16020715 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d0f2101-77fd-4b05-b5f8-b84a21f92160 CAID:CA16020715 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc919abc-fb00-430e-aa9a-2b1f42d946f1 CAID:CA16020716 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a674e604-4ebb-4511-8b58-fb04d13e8b70 CAID:CA16020716 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08f547cc-9af4-4639-a81d-4ab27429abcd CLINVAR:21385 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 425c2977-95f4-4074-8932-1ea99fafb144 CLINVAR:21385 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7f01a78-9d8d-40f2-875b-1fd2a65ff1b5 CLINVAR:444219 biolink:causes MONDO:0020678 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 804b7291-fae9-4122-b6dd-b08d9b81a4d8 CLINVAR:444219 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d016464-b89b-493a-8e14-45993dec1d2b CLINVAR:2356 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f726aa4-db3e-448b-b79f-c7ccfdb1fd8f CLINVAR:2356 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9ccbaec-f631-4ccc-9c9f-415dc6957db2 CAID:CA891862634 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 606e9aac-3a96-4c72-b8b4-34bb58517c79 CAID:CA891862634 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b27f0a7c-8490-4715-a7a6-eb96160158d6 CLINVAR:102597 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8b0217b-0bde-49ea-82ed-94b85348469c CLINVAR:102597 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ef41d88-4d0b-4a15-8cb6-7c2a57a7a3ec CLINVAR:120310 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 984293eb-aa29-4b16-82e9-b911b222b8b7 CLINVAR:120310 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a76ab0c-c61c-457e-9cc2-cd71944542c4 CLINVAR:611 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ae51af0-6660-46ce-beef-e53f7e0b95d7 CLINVAR:611 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2ce00c2-2e22-40cb-aede-46f4169a8f8e CAID:CA16021002 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae639bda-baa0-4ab4-be92-20193f75e2fa CAID:CA16021002 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b6d53b7-c934-4fe7-b1c6-e8a276591d95 CLINVAR:102531 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72a291ab-eb95-4c38-9773-fdaa857e4db3 CLINVAR:102531 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 073a717c-9913-485e-b36f-84a8ed2b756e CAID:CA16020735 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 638ea351-1e08-4f86-81d3-9ac8e2df46b5 CAID:CA16020735 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e925a494-fcf4-46d2-9c4f-c7f8a50fa0d5 CAID:CA913184971 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97b7bfe9-68eb-4744-8cce-2d0cc6b17e26 CAID:CA913184971 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ac02847-41c6-4a03-9d5e-434ad2952f46 CAID:CA16020737 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 181a7249-f7d8-47b2-897c-a3ac7533b21e CAID:CA16020737 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e2b4b6b-6cb5-458f-82eb-a88008478b84 CAID:CA16020872 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2dcb3e3-1218-4a49-aa74-be612da625b8 CAID:CA16020872 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c7a5b62-11b3-493d-b36c-9e864b991d26 CAID:CA16020746 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da4907ef-6bc8-4d5f-a22c-c0a3993452ef CAID:CA16020746 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 902780cc-3c85-4fad-b80d-ba6582668193 CAID:CA913184978 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eea358c9-4bf3-45b5-b154-4993ea2e04b0 CAID:CA913184978 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49ca0131-680d-4773-959a-98f4d78c1a63 CAID:CA16020742 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4da509a-0f7b-406f-94eb-e527908f58be CAID:CA16020742 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf9f4fd7-65a2-4cc6-8b4c-d02659c583be CAID:CA16020759 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0b16aac-a922-4617-be87-da457164ac41 CAID:CA16020759 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac9a875b-500e-4691-b221-813552dea121 CAID:CA16020888 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1288cd87-9d8f-4a09-89d4-27fae742e784 CAID:CA16020888 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71e13496-ed52-47cd-98df-7ef07a09fee7 CLINVAR:102888 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 765f014f-d176-4ea4-a655-87b6a5fac2b5 CLINVAR:102888 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c486f1d-a830-4dfb-8961-df00a781881b CAID:CA16020730 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74d5e2cf-df59-4917-9c4f-e896654dce49 CAID:CA16020730 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d1813c5-19cc-424d-a4ba-721e5a8126d8 CAID:CA16020721 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57c05139-ad46-4ab3-ac46-30fd75c72fcc CAID:CA16020721 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1621506d-5cb3-4f6f-b84d-4748cde29a5c CLINVAR:102607 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95ed4b67-1cda-4ecc-9dc6-bcfcc6101caf CLINVAR:102607 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73e737c9-a807-42f5-828d-ee2353f7e40a CLINVAR:102613 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 82466c0d-76e4-4111-a9f7-a2ec313ce29f CLINVAR:102613 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d3f0148-8f16-4c0d-a3fd-9850f4d30f1d CLINVAR:555212 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0193a1f2-8bd8-4e4e-9d6c-0b4ab4b0ac58 CLINVAR:555212 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a903088-fc15-4455-a8f1-aa6d2a403719 CLINVAR:2355 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a0cba9d-63d7-43d7-8a7c-c153b0ee7345 CLINVAR:2355 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 963c6031-182f-46cd-860c-085fdccd0b66 CLINVAR:140803 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a603fa46-359d-4282-a1c1-38e87a9adbac CLINVAR:140803 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b85f2efd-317b-482f-b07e-07483f56878b CLINVAR:545785 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af82f30b-f510-40e4-8ad5-ca97be751e22 CLINVAR:545785 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f427a8ea-2b94-4f74-8111-541cdf531346 CLINVAR:582514 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09ce2495-0012-4d51-9fd9-5851c48eff00 CLINVAR:582514 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3742f968-8d06-4531-9ccc-7d0d159c34bf CLINVAR:545738 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa343897-a13a-458d-8387-c0c00216f572 CLINVAR:545738 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d014f1a-7a29-4a04-9bdf-e759264039c7 CLINVAR:578952 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b8b9cbd-1eeb-490f-acd8-bc7d258f2763 CLINVAR:578952 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a58c752-2355-441f-a808-78f1d20d7297 CLINVAR:463743 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94f91d79-c248-45fd-b8a4-d82c6bdc1aa2 CLINVAR:463743 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70f38f8d-eb10-4ced-8fd6-16ff4df7669f CLINVAR:142888 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 55bb1460-7561-4f58-869a-750b30369210 CLINVAR:142888 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46604e4d-66fe-45e9-a87f-cebbc76ffaaa CLINVAR:141206 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eec4505b-d146-44c4-9b59-7eeb241575a0 CLINVAR:141206 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1060fca2-2ae2-48f5-936f-c467ff98dbb9 CLINVAR:406669 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1189c8a7-bc9b-4dcf-af3a-2880428361d9 CLINVAR:406669 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78dd39c3-1635-4c02-ada5-1599bb44259b CLINVAR:483251 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb8f458d-4779-43cd-862c-3ed4ddc118f2 CLINVAR:483251 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fa6a2bd-2cfd-4978-9bf3-30f49c8d2c72 CLINVAR:406628 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ef1822e-9868-4788-b1ce-dcea919e11be CLINVAR:406628 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aecbdc8d-08f3-48a9-8ab4-064e3e35c5b4 CLINVAR:406616 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77b2b95c-2d03-4021-8936-edd8b5f607fb CLINVAR:406616 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7b3cc2b-405b-4e3a-bf61-3e3acedbe1fb CLINVAR:483227 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1d8a4d7-59de-4498-803c-5f4bcb5370e8 CLINVAR:483227 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 878fd2ef-dcd2-441c-89ad-4d4f4d384482 CLINVAR:422315 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38eb4f85-bc4b-48a8-a841-6c8e79fe239a CLINVAR:422315 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c3625be-8d02-440f-b161-c694d79aee1d CLINVAR:463742 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f01b022-ce6c-4bb2-af8b-774b2475aab0 CLINVAR:463742 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79b19821-4f0b-4752-8901-2461029d29e6 CLINVAR:239891 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da387186-f118-462f-aea8-27cf04ff6acd CLINVAR:239891 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f48b6ef-0b4b-41ef-873f-cb57d487c5fa CLINVAR:231923 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02cc2377-8eca-4552-904e-be02684c0c08 CLINVAR:231923 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3118c6b4-f44c-494b-bf0c-8d0e78ab8f5a CLINVAR:567608 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c70a472c-ebaa-4cc1-8572-65ef9eacb936 CLINVAR:567608 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00484d5d-5156-4116-b935-a024be7344d1 CLINVAR:187239 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe677792-fc95-4b79-bbf5-80580d50e6ca CLINVAR:187239 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1bbd071-5320-49ca-a756-38daa5c56e2d CLINVAR:233979 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01367b0d-d48d-4dd8-8801-2268408b71de CLINVAR:233979 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b55247d-7b1f-4295-b653-5871e65d12b4 CLINVAR:230451 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2111aeeb-2c95-40d8-988d-06da182ef78e CLINVAR:230451 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 530ddf74-2c11-47b2-993e-9a011a411035 CLINVAR:156374 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8df0d2ac-4a67-4ef5-8dd2-381dbfaa7ea0 CLINVAR:156374 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2630f181-4dac-47e5-8a6e-fea8991730a5 CLINVAR:234595 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f197cea7-c4a1-4cdc-af03-d6c961607638 CLINVAR:234595 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 340a95d6-a519-41c5-ba3a-12c7f359f2e5 CLINVAR:234594 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0a464c3-7c73-4e58-81da-5d8dced300a4 CLINVAR:234594 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d264b980-1acb-426b-a7ce-df1f5753c42f CLINVAR:183750 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7ddaa21-2cb3-4e52-86e1-38b835cfe168 CLINVAR:183750 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8a6014c-a175-491e-bfc1-9122bc604e0c CLINVAR:12240 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 276f6fde-5966-449b-92ea-a403d4007b5f CLINVAR:12240 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a9592a9-2c42-4706-bd88-d6b01073c535 CLINVAR:406646 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17ee7277-3f4f-4818-b135-275375654b80 CLINVAR:406646 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5640e2e-b691-4ced-97a9-bda28a48fd05 CLINVAR:491538 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c27f90b-5216-491f-badf-8ebc58229fa4 CLINVAR:491538 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71fcf7c2-0d42-4a13-b799-75a344466b23 CLINVAR:406644 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9677bd7-0742-414c-bcfb-f132e2f24aac CLINVAR:406644 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f26c9652-bddc-4f08-9b6e-1f5cd045fd09 CLINVAR:12234 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87dc872f-a06b-4d1c-864a-aae48c392da2 CLINVAR:12234 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea2546e8-0638-439c-ba8c-4e1c42541541 CLINVAR:567085 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 48cf5a70-b5ef-4728-ab6b-2d1cda8e5f61 CLINVAR:567085 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1911efbd-eae7-4afd-998f-1bcfe2d785dd CLINVAR:182393 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dec7506f-4728-4e71-ba76-141c4e33287c CLINVAR:182393 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b228692d-deb7-468d-8d0d-8da81660970e CLINVAR:230948 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c0e300f-c079-4426-989e-41f790645d80 CLINVAR:230948 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41bb0b00-1f4f-486c-989e-e6fd19d1e513 CLINVAR:419385 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 97ad604f-7f83-4c8a-aee7-5ab9d13f6030 CLINVAR:419385 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ae253c2-82d7-4a6c-9707-129acc9a9150 CLINVAR:141661 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 150a3f18-c909-414c-8ca5-425e919e9821 CLINVAR:141661 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eabaab62-e388-45c4-a4c8-e70a2dac23eb CLINVAR:496819 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7dff23e3-92d7-42ae-9a4b-b6b7a35f0b54 CLINVAR:496819 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff6d6259-9c51-4e85-a121-8c0a5031da74 CLINVAR:428618 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d4134041-1283-4d7e-a4cf-fe3263be016c CLINVAR:428618 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42ce07a1-6506-42df-b540-49bbc74c3bb3 CLINVAR:492677 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80751adf-1509-4e75-b074-df3a895abc9f CLINVAR:492677 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68ad4ec4-930d-4003-847b-980626003921 CLINVAR:12236 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e0b5469-d561-4840-82b4-b71b9acdb45a CLINVAR:12236 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b5470a0-c55b-4b00-9551-a035848b9ca7 CLINVAR:185408 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5610d2ff-26b0-4120-998e-0dd7dca2feef CLINVAR:185408 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 302ad73a-9ff8-4ca9-961f-20fadc73e786 CLINVAR:230956 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8cc751c-b2ed-4478-8bca-1758d7c0dcd5 CLINVAR:230956 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27b9a154-826b-4ae8-a4d9-da79704db81b CLINVAR:12239 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53714432-17b9-4b20-aa79-7da1a514a1f4 CLINVAR:12239 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3055f04a-1342-4d9e-9274-f194b56986fc CLINVAR:548782 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c59eef3-f718-48c5-abd9-112522202aa8 CLINVAR:548782 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e96f8fff-5dc4-48f2-b40f-7e2a272650ae CLINVAR:179479 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d1a3e4b-56ae-4aa7-87ed-948b479a130d CLINVAR:179479 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a672169-78f3-43f1-9b31-c1d6704a37e6 CLINVAR:141951 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a7c5fa1-48e0-4012-8719-139b20dd2620 CLINVAR:141951 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c656d72c-25d3-4ea9-8379-39bd95f7771d CLINVAR:239909 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94e91015-3468-4be2-a34f-5911c2e7c436 CLINVAR:239909 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6897b725-f884-4725-8c59-3b0ef733bd46 CLINVAR:428628 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 11496182-049f-4f61-a766-2ea949c4654d CLINVAR:428628 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3227cb61-29f8-4259-b90e-552f18183a86 CLINVAR:279747 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05c2b6e5-726d-4473-aa62-655115d5f26f CLINVAR:279747 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bcb66a3-f047-437b-867e-b456f284fb30 CLINVAR:186618 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8537487-b4b2-4fd5-8b58-29fd5ea0b830 CLINVAR:186618 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73fe6ca8-e9aa-4223-af8d-59377898c9c8 CLINVAR:43528 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eecbb9c5-61ec-4451-8e8b-c7369be10652 CLINVAR:43528 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e641b11-7fa7-4af1-acd7-69bf0567466f CLINVAR:43527 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bcaad338-ffa3-4666-a5c6-7ac7f5f4334e CLINVAR:43527 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 333517f2-30b0-4516-87fb-36227a934b49 CLINVAR:255733 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8e085f5-295f-4d0f-ad09-e7e1df6f979b CLINVAR:255733 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfe35e3e-edb8-4351-b4d5-b6a94d7392f0 CLINVAR:616 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc75db93-1060-43b3-be1e-39fa5f4406fd CLINVAR:616 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7a2e5cc-9e89-459b-8c49-d79b9eb0e2b4 CLINVAR:430401 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e1b2132-9a05-4be4-baed-73755d8b3102 CLINVAR:430401 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc46f1f9-7a41-4478-8a22-871cdc5cd87c CLINVAR:194161 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bab0328d-8795-4f05-8a28-e3e4437c2500 CLINVAR:194161 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94b12dc4-a72c-498e-89db-e90bcdcf5312 CLINVAR:102565 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen deaf226a-8bf7-419c-bbdc-4e0d20a34575 CLINVAR:102565 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b39bd63e-66ff-4008-a2ba-968747d15504 CLINVAR:439227 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d28b28a-10b5-4872-827f-798d634955cd CLINVAR:439227 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9252e9f-0f97-4977-bf96-ddadf9e3d1a4 CLINVAR:102674 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7652f907-8600-4fb6-8074-888ecde00f5e CLINVAR:102674 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68851ba7-2ca1-4afe-b401-727e49486abc CLINVAR:102633 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 38c861da-2559-4429-a6c0-b6f844eb1716 CLINVAR:102633 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 354ab4b5-0cca-470b-8cf9-339d51f95b68 CLINVAR:120292 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9cd5633a-a790-4b89-bc21-a9900a331768 CLINVAR:120292 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26a43de0-8e4c-4ec1-9e51-a898796f6620 CLINVAR:120296 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0dfc763d-503a-4100-833b-d108a0d7e040 CLINVAR:120296 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d33b6979-4486-4d4e-977b-495f03863f4d CLINVAR:120268 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 060f18ab-0e31-4ccd-add0-a1c9c70d8ffa CLINVAR:120268 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed54a484-712e-404c-9c27-06f04a7abc7a CLINVAR:102608 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0a24481-e000-4775-80c2-3ae8badd5513 CLINVAR:102608 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fab44ebb-8e78-4c43-ad3a-99486eb96cf5 CLINVAR:40842 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67c40bf2-3fa4-4945-9a6e-be2df8972e21 CLINVAR:40842 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f56db50a-34f9-461d-bd46-bc663595eae8 CLINVAR:181510 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f3ab77e-7bd7-4638-88b3-c8b3f4a96b01 CLINVAR:181510 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cdb4700-9a1b-4bde-8b36-f0a4df66b33d CLINVAR:180859 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2fe51f0f-2bb0-48d4-98ad-94081d10e51b CLINVAR:180859 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60d98c0b-c5f8-445b-85d6-c1a980a6b3af CLINVAR:830078 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3044deee-897d-4081-8ec7-879413c6c2f3 CLINVAR:830078 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16fa03d6-0a2f-4353-a1ec-0d98680297a0 CLINVAR:438172 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 47c244e9-5c82-4349-a605-158ea4429b14 CLINVAR:438172 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f19cc44-ed62-4b2e-8763-8cbef952642f CLINVAR:45366 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 709e34b4-c6fa-4aba-8a4c-5b0144b19bc6 CLINVAR:45366 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 208de0a0-bba1-4348-9ee0-88254b53ea6e CLINVAR:4928 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen accdb9e9-14d4-42f0-8db2-b91dedbdb49d CLINVAR:4928 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 744b4a2c-e89d-438b-9ab3-895473f3fa0c CLINVAR:590799 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7ab15d4-796d-4afb-ac54-5e3b98a1fada CLINVAR:590799 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4233e66-6b41-4a7c-afd0-13709d9e7c12 CAID:CA16020920 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15039019-05db-45d3-9b48-2b07c1edeea2 CAID:CA16020920 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23bedeb8-f606-4e15-a143-07db889a0c7a CAID:CA6748732 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 206b831c-d61b-4cee-8cd6-0d80967a29f4 CAID:CA6748732 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fb57d15-4d57-4866-8228-7f89de55c89f CLINVAR:4926 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a75d312-9069-4bcb-8d82-eb662bb4b659 CLINVAR:4926 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42747396-3570-4091-bbab-0384f10c506b CLINVAR:48503 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34a83dc2-1e44-4ff8-8665-69457473f3e3 CLINVAR:48503 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2695c637-2e21-4697-b9d4-809e6a5f6576 CAID:CA16020771 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c69a76e6-cbcc-4b48-a307-8de39fd500e5 CAID:CA16020771 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f402d49-0563-4b67-86c5-0c419d894d4e CAID:CA16020929 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0382c76-9d99-4304-8cfe-2fe0b3c550a2 CAID:CA16020929 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76096107-7758-4baa-86d1-20e5357d0053 CAID:CA16020930 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1773971-110d-4608-b120-e1f8f7eba743 CAID:CA16020930 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc9cf091-f72a-4aaf-9674-3e3888f62ef3 CLINVAR:604 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d168bc4-5a6a-48b4-b52f-b9f7eed6af8c CLINVAR:604 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 391c813b-15e0-4fa0-b3da-417359692736 CLINVAR:102672 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5abd1bb2-c005-4c09-8b4f-82b73e51a0d6 CLINVAR:102672 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99539022-06b3-4bec-a432-d12763c05807 CLINVAR:438177 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d3a3bda-a405-4e52-a136-5784b09c3165 CLINVAR:438177 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9af0388c-4d29-4f62-9f92-2f102b57b359 CLINVAR:430229 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab656f8c-1031-4555-9b66-82db944fba2f CLINVAR:430229 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81444dd9-5636-4e09-a65d-39fa82f57360 CLINVAR:179773 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5d08856-635d-404e-92c3-1f13390e1e63 CLINVAR:179773 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 004b660a-32c9-4a2d-a62e-9092ecb53b63 CLINVAR:48395 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 17a289b5-dcfc-4082-bb2b-151c4098dcc7 CLINVAR:48395 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0296d7fe-d5ec-4565-8654-26dda56c0c45 CLINVAR:226441 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a8d0146-4f55-4de8-ade7-6a63859c17a0 CLINVAR:226441 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 907f06d0-af6a-43a1-ae82-84a07d0bc4c1 CLINVAR:43521 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 551f2cc7-e175-480f-807b-86fd7d3ed327 CLINVAR:43521 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d85ebe3-af94-4f11-a0cb-dc420cddda2e CLINVAR:43186 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5270c205-fcea-4263-bc5f-878eff25e877 CLINVAR:43186 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dfa6bf1-7ddb-4bfd-bbde-6a3036c2348a CLINVAR:48544 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 711df072-6335-41f9-a66e-3b72e5e0e167 CLINVAR:48544 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2e95f06-9548-4a31-be76-e0a87f6b21c8 CLINVAR:48417 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e00bd101-29f5-4a41-99b6-c52ac743ca7d CLINVAR:48417 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 670e3c35-7ea4-4219-a1f3-0c24979d4e90 CLINVAR:429984 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 55bcd938-8e36-4b07-a80c-68c4514d0c34 CLINVAR:429984 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b768f3cb-8805-40f8-8771-67941bebea39 CLINVAR:290125 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb0dd1ed-dc27-4fd8-8746-f93662a671ee CLINVAR:290125 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a763dcc1-c904-4aa1-bf66-f15387621165 CAID:CA16020924 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94ef9279-8d1e-4af6-ad37-aa7d692d850f CAID:CA16020924 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 207c6e1f-0f7b-4d73-b9a8-a4c9b4758455 CAID:CA16020966 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3443d53-7876-49d5-a8fc-062814d23821 CAID:CA16020966 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d0a3e76-8291-4fd6-84bd-ba045f00ca5f CLINVAR:102589 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 31a32aed-156b-4832-9e74-123b46fdb41d CLINVAR:102589 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54f65872-5235-4a05-9a06-59daf9044b1d CAID:CA16020931 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ea009b2-ef30-4872-92ff-84e1ec3f14e2 CAID:CA16020931 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aba763a8-fe7e-4420-9daa-432b1ae21dd1 CLINVAR:102590 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e46b68c8-b182-43e5-bf5b-9cf77842622f CLINVAR:102590 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d620d148-0d59-4ae1-b3aa-2d6ed66e6e05 CLINVAR:585208 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b74ad55-fb6d-4a76-82dc-05913f8b43c6 CLINVAR:585208 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab11981a-c99a-4ff9-8114-0b40eea21255 CLINVAR:120293 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f87c6538-0476-48ce-8323-fea90c534f6f CLINVAR:120293 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26625293-d077-49cc-8146-ec978282f5a7 CLINVAR:120295 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 653741aa-0103-4d1e-bbe6-4c235275e314 CLINVAR:120295 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6db61dfc-72ef-4193-818c-9b1e8d98925f CLINVAR:120294 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 023c9bc5-2d18-4270-8b88-873aad235477 CLINVAR:120294 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8121a082-f728-439e-a0b2-b1ede3206b3f CLINVAR:549954 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77753bee-358b-4673-8311-f672531b6d86 CLINVAR:549954 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 794043a6-46f9-48eb-b1a5-8ec909a56c92 CAID:CA16020754 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbad428f-d0a8-4766-8d27-7200a33bebfe CAID:CA16020754 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 247208b0-5b5f-43f5-95ef-72f3d33d582f CAID:CA16020755 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a019852-6650-4835-a5d9-3225cd1ca774 CAID:CA16020755 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 021508fa-bce2-4cff-918d-b3c8e83a687d CLINVAR:872832 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 14f7581d-56bf-41c4-ae2d-95d0221758bd CLINVAR:872832 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4ec61af-6476-4542-8a2b-76c90a4b9c09 CAID:CA16020782 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46b98dd0-d848-407f-9d5a-69845d689c88 CAID:CA16020782 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb0dd8ad-3f3b-4aa2-8ded-a397ed11e20b CLINVAR:872834 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5fe308f8-352d-47c8-b1ef-9c950f23f91a CLINVAR:872834 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b2cadd1-21db-4eeb-ae15-01f85bcd3599 CLINVAR:164724 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96a823b7-8e66-470f-a866-3dbd08d9cbaa CLINVAR:164724 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6c7ca1f-4f12-4bb3-851a-07a63926313c CLINVAR:178667 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a0b42499-6cea-4c66-9443-170e22ab5f54 CLINVAR:178667 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf707f01-8386-47b5-8604-fa8c04ccaa1a CLINVAR:43335 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 18952e01-e896-4acf-b042-e386c6f633e4 CLINVAR:43335 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce151c61-3f87-416d-a331-46fbb1c42533 CLINVAR:43541 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e60b468-e39d-44c5-bc51-e9f719114dc3 CLINVAR:43541 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6bfbf9b-7588-4829-8f2d-c6900c9319c4 CLINVAR:208366 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94d77305-3199-4d9f-8125-fe5ba18c8109 CLINVAR:208366 biolink:is_sequence_variant_of HGNC:6298 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f962a812-6881-4032-9ab7-72eb363af71a CLINVAR:43292 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e43d681-490e-45cd-bcc6-ebe53ac78593 CLINVAR:43292 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f3133ca-fc9d-4fc2-9f4c-3ab2718388d5 CLINVAR:422345 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c548464-eac5-4c36-a15b-c0d0a752020a CLINVAR:422345 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d830567-8ce4-4ed6-bdfa-a0d3d0e9416d CLINVAR:228484 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a66b1194-7841-4985-b164-e4f2a17b3cf7 CLINVAR:228484 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f535139-2c7a-4138-a734-9ccc0b96744c CLINVAR:228500 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ed4f0d9-5f2e-48ab-a75e-9b970bfbd6b3 CLINVAR:228500 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e453cdba-3a08-4327-aaea-7ab163e59a30 CLINVAR:181547 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ca020a6-c2db-4354-9bed-713c5c27bff1 CLINVAR:181547 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7701db01-0161-429d-8c63-55c316a4ba7e CAID:CA378386067 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe149663-b299-4808-a8ec-b3dc823801d4 CAID:CA378386067 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6d4da50-af02-456e-951f-1800df963a09 CLINVAR:428277 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21f3d90f-1de5-499d-8d05-4290b9ed2818 CLINVAR:428277 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a4e0dc3-8a93-40b4-99da-83686c302a78 CLINVAR:142878 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7064a63a-c469-4738-add7-c17cc6248cac CLINVAR:142878 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d544d4b-c946-41ba-b0ec-d5218795a82d CLINVAR:40498 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 359db2f8-6608-4206-ae99-900aba8f44f5 CLINVAR:40498 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93679500-d71d-4ee1-bb78-d51a1935dd8f CLINVAR:279960 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7833b9c-28f2-4262-adc8-e3f5980a461a CLINVAR:279960 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0399ce4a-edc8-42ff-94b3-6a0de5cacf84 CLINVAR:13341 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a46a6ad1-c9b4-423d-a335-e7ce83a5e6d2 CLINVAR:13341 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50565737-f3e4-4636-a24d-8beb23479a90 CLINVAR:484600 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 95641590-0a96-4935-8fbd-05e8479cd29b CLINVAR:484600 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4127ca4e-f0f5-4654-8592-c1a082ba490f CLINVAR:142018 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8429337-bb82-4bb5-aec0-ddefb6dc86e1 CLINVAR:142018 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa29ede4-d2b8-47b3-94fe-5932a84b5430 CLINVAR:234144 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f9e860b-7eed-401f-b30c-9e123bb226f0 CLINVAR:234144 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78fefcd3-673f-4510-b302-1e380007bff7 CLINVAR:404168 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ebb8dcd2-e967-47da-aced-0eea364a4203 CLINVAR:404168 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44e7aa84-02c2-4731-9df8-6084caac7149 CLINVAR:102573 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb3e41c5-d65e-4c81-8788-684dd673fd35 CLINVAR:102573 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1bc0ac8-09ff-4def-ba8c-06da7bafa8c3 CLINVAR:629 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef108879-52be-413f-a58a-687ecbb650aa CLINVAR:629 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55af0956-e54e-4c74-baa1-8451c1a9a125 CLINVAR:102680 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 818aea7a-8669-472c-bc10-bc08e4956ebf CLINVAR:102680 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 680bc3ef-c2e1-441f-aec0-6637e0a893bf CLINVAR:102685 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a4092da-7347-42e0-82e0-371c7ff6d5ec CLINVAR:102685 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69f750bb-879c-4d74-bdc0-4a4c5a17ff45 CAID:CA16020948 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d6306a27-3239-484e-8a97-dfafee5ed979 CAID:CA16020948 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8c8c3c2-cb28-466c-bbed-e002e51885eb CLINVAR:102915 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0355460-fea2-4051-a77c-c6e4584f66c0 CLINVAR:102915 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 344c185b-023d-437b-a8dc-01b3af067b3f CLINVAR:872836 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ec4b440-524f-4c86-af99-d1f1e61ed730 CLINVAR:872836 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c8404ed-91e0-4fb1-b55d-1aac28f165f0 CLINVAR:427599 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93dca861-35da-4474-ab12-c2647c17ecb8 CLINVAR:427599 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 021afa4f-9db0-45c6-b270-2284df37cd2a CLINVAR:428256 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1644bc08-2b9a-498a-bace-8facc7c4b61d CLINVAR:428256 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 535ce908-f23e-4897-b2c7-775670f6e99c CLINVAR:127688 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a86ba1de-d969-4ad4-972d-ba68eea49b63 CLINVAR:127688 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3307e32a-7f0b-4503-b69c-ddff512026ae CLINVAR:189415 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c470609-7233-4504-ac65-8aa9873b29ec CLINVAR:189415 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93c04a07-5df5-4d50-a513-3b1a5c432b15 CLINVAR:404160 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1076d9c1-23dc-46ec-9625-258c6ee4505f CLINVAR:404160 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b46a134c-01ad-449c-b43f-b870b7263d6d CLINVAR:418653 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 035d0a18-3900-4236-8ec4-038e3f10e2ff CLINVAR:418653 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6849b035-1767-4da7-9ba9-17fbf6fc7721 CLINVAR:421055 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5468082c-797f-4810-bb8c-be544e9cb3c1 CLINVAR:421055 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b648b6de-5e6f-464b-944d-63fdab0d9827 CAID:CA410202469 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b2181a22-3bd5-4750-9a1c-024523483a74 CAID:CA410202469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed14a056-ba62-4a4b-b8a0-66eb62ac4e9c CAID:CA645614124 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 893c2d1d-859f-4fda-bd0c-7d55154cdaec CAID:CA645614124 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ef53da4-018a-4a4e-a334-86c65583b9df CLINVAR:561253 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc8d1e13-5f5e-4161-913e-33dbf57d7e4d CLINVAR:561253 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3066c502-714a-4259-9d26-f4c302a53681 CLINVAR:627342 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 18938385-7994-47e9-a7b5-fe25de30963e CLINVAR:627342 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c44813c5-b3f4-4225-b6f7-0f4d6bc9316b CLINVAR:869209 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28a7318c-cf0c-4f5c-b7b3-08a63461e154 CLINVAR:869209 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91a0aeed-4276-4525-b641-7a903314f935 CLINVAR:869210 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 05b73244-ff3f-4c38-b94b-7f7fbb2f2867 CLINVAR:869210 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e09584eb-acdd-464c-9b33-deca225dc285 CLINVAR:618862 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 717c93de-c6fa-4634-8674-c15addce4668 CLINVAR:618862 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df1a03e1-f40e-43c2-8ef6-8e2d424d5cdd CLINVAR:234282 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7bbb98b3-9a6b-43e6-9884-90f209aff6f8 CLINVAR:234282 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3afc1c31-64c2-440b-9706-5d4fe92bfc25 CLINVAR:422227 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b870628-f826-498b-89b3-230e1a2c88bc CLINVAR:422227 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf85d362-6683-4de2-b57d-ff5c5704ee3d CLINVAR:420004 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3306cac1-33e7-4aa3-91eb-a19e537160f6 CLINVAR:420004 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5b449c1-924f-4bb8-8dc5-fed47da6f1fd CLINVAR:463795 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6cdf5dfa-10ac-4dd8-9553-6aa304931812 CLINVAR:463795 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 199a1246-0a3c-4428-bac1-f25693f82208 CLINVAR:437928 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72551140-d945-4ed0-823e-8c6d6d3bc78d CLINVAR:437928 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 824d8cf5-11b6-4499-9e35-608f7922bd91 CLINVAR:229907 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1eaaa963-b63c-4a42-8429-ad4675451d3a CLINVAR:229907 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21e51280-8d4c-4533-a17f-bf69380a96f9 CLINVAR:231528 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f69468b-f441-4509-9fb7-bf9728eab510 CLINVAR:231528 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99b30aff-131b-4ec4-b747-58b0750f8399 CLINVAR:224528 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8c62be6-2bad-40e5-b73b-1775e41f717b CLINVAR:224528 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c3459ba-7786-4dc0-83e1-85385a987854 CLINVAR:428620 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c7c0ebcb-4032-429b-a890-3ff8a336e144 CLINVAR:428620 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 671bbf85-76bc-4761-944e-89704adbe1f4 CLINVAR:220776 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b73681cb-9fda-45c0-b14d-e481cef23816 CLINVAR:220776 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 358991bd-d2ca-45c7-ae5b-e49f4935327a CLINVAR:428626 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b5cb2a1-5a61-4cf2-ac7a-8230601a66ab CLINVAR:428626 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10856145-d053-49a1-a116-33053821719a CLINVAR:463772 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58ab8415-5da1-4593-bca3-3acbbb712e65 CLINVAR:463772 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d18666e-811d-4ad9-9561-44c7697ff711 CLINVAR:406624 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e566963f-e998-47dc-a0e4-d04215a44fc3 CLINVAR:406624 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 065f2232-5a78-4b0f-a3e9-d86aefa9376a CLINVAR:463790 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d427c3ed-0a95-4aa4-bd95-c2a963cfb9cb CLINVAR:463790 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6c5cf9b-67b0-435c-808c-c339e2527ab4 CLINVAR:569046 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c6bc300e-eccb-4fe4-86e1-7772a3583460 CLINVAR:569046 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d245d409-cab9-4dad-960c-b65e5702f5a9 CLINVAR:239903 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94f4cd2a-05a6-446a-9097-eff545614cba CLINVAR:239903 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a550435-63f6-49b7-a727-d275359498fd CLINVAR:463781 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 365c40fb-6427-459e-aa45-37165a7d9c33 CLINVAR:463781 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd4023e0-78f8-412a-b79d-643df51f654d CLINVAR:418533 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 03e5dd2b-2872-41cd-b1b4-0b477ce81d23 CLINVAR:418533 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 629a08bf-1a5a-40b3-8a9f-4676dfd015a8 CLINVAR:281818 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 365be4c5-fc56-4635-8c9d-2ad9cd3db6f3 CLINVAR:281818 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4ca34e7-0181-434b-b74a-54e4d9174c1d CLINVAR:133312 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65f374bd-4e2c-45cc-83e1-adb2c9d57e02 CLINVAR:133312 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 419147e8-79d3-45ca-af13-e368230e60b0 CLINVAR:196222 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13d093ac-24b2-4f71-88d9-c3609d00153a CLINVAR:196222 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b40c154-f545-4657-9211-3fc175713f34 CLINVAR:325774 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 493baace-c2a5-4322-ae32-a965e200005f CLINVAR:325774 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e56e483-8cee-48d4-805c-0107b7816583 CLINVAR:557429 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 88a917ef-c090-42eb-a231-859d3be5f364 CLINVAR:557429 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0401ef4-11b1-4cdb-985e-082386afa4b4 CLINVAR:230112 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1b14e6a-8d67-4172-aeda-dd7a1ff575ee CLINVAR:230112 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 329729c7-1820-44a9-a203-4ae01cc26ae6 CLINVAR:406578 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a1c5bd0-8274-4d9a-96f6-1aac0248a067 CLINVAR:406578 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a495865b-80e6-489f-aba1-38810015c8f8 CLINVAR:127819 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 104354a5-4f8c-4f52-9a7e-fe5cdbddc8d0 CLINVAR:127819 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9d30b55-74c0-4e8c-933a-68544a15499c CLINVAR:142766 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 091f27c9-877e-4720-ab32-88feb66b3e81 CLINVAR:142766 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87e86462-b180-4424-be3b-e5cdccccdde9 CLINVAR:245711 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 70280c2a-5744-4572-8dc3-8f7592d0f1b1 CLINVAR:245711 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 800f63ac-f401-49ac-8050-656bc4c047df CLINVAR:233951 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0fa6646-9ad4-4591-a838-4c150ea1cf66 CLINVAR:233951 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4077543a-1ff1-4626-abe6-bcf219670b0e CLINVAR:127814 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd10a1ca-2bd4-478e-a6cd-118c702bcc42 CLINVAR:127814 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5ea6030-518d-45a4-b652-41563df9c424 CLINVAR:376615 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34e76795-85b1-47c7-9cc1-a9a51c25e276 CLINVAR:376615 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90b4cc18-19e8-4255-9659-cad6760fe256 CLINVAR:12375 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6bfe7720-45db-4908-abc8-843d204756d0 CLINVAR:12375 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab9e6334-7e5d-49d2-b905-c0197d249d0d CLINVAR:93323 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05b9c608-0939-4bc6-90ef-f90e99300609 CLINVAR:93323 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64aa8202-1d0e-4d5a-b350-4b214d683937 CLINVAR:12347 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84d74979-d7ac-4f3c-8cb9-687f2e6e6abc CLINVAR:12347 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6aefa81c-19bd-47d7-bcfc-0bf03468c583 CLINVAR:43587 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb78af6b-7d72-4984-8c19-423da5f60b15 CLINVAR:43587 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c1cb09e-fd42-4358-91ea-67393630465f CLINVAR:230253 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfed71e9-ce7f-49dd-ae0d-567e5002808d CLINVAR:230253 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6cae405-3a4b-4fa0-b26e-be64f9f98e25 CLINVAR:482223 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84563585-2ae5-4f0e-b3fa-61dd2886b168 CLINVAR:482223 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93de6a7b-a214-4a59-a683-1f62b5e95797 CLINVAR:376563 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0d227c1-40b6-4c75-9c2c-5ce83b8efea7 CLINVAR:376563 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9c05d42-c478-4c6a-9c5f-cb62f154b725 CLINVAR:428898 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c1559a2-e750-4a19-b0f7-ea3ea940d698 CLINVAR:428898 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb360faf-168d-463f-a430-30cb08da6e0d CLINVAR:458537 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b96df32a-d89b-48ce-9432-19f9e8cb604c CLINVAR:458537 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3ef1bd7-4f22-4088-b353-823d5eddeb31 CLINVAR:804214 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a358e6be-3547-45c4-9189-f581948cec63 CLINVAR:804214 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 297ed587-1865-4aaa-bf43-bf6a37b738e5 CLINVAR:12366 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 055c5c2e-bb67-4abd-8f44-191d01556caa CLINVAR:12366 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 258b440c-5045-45ac-a99c-9c07e8892456 CLINVAR:12356 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91204bf3-629c-454d-a73e-9c78b679ae2e CLINVAR:12356 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07a1c1ab-ba66-4418-86ef-fd80e96068f5 CLINVAR:182969 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd5d081b-b47d-4b49-bdce-c834f085ce84 CLINVAR:182969 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 088e0652-67f0-4b36-a662-794acf38029d CLINVAR:376612 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f8dc143-de90-48da-97d5-ca11f49dff69 CLINVAR:376612 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dba322b-6c82-4d6e-b0d5-912d550082bc CLINVAR:102752 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ed9260f-1d3f-49cf-a73a-7afa1ec2d6cd CLINVAR:102752 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dfb8b8b-f97e-4a11-8915-5fddb8c5c624 CAID:CA16020725 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b9611da-a899-4d98-8562-66c9ac7a263d CAID:CA16020725 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 025ea068-bc79-49ec-8cb5-7c52150e3f80 CAID:CA16020790 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef89ddd5-59f9-4151-98b0-945f6da4ba93 CAID:CA16020790 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dadd15b-e628-4f59-9026-0321566d6160 CLINVAR:619705 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 04be17fc-b09d-41ea-b1bc-4e7cad546091 CLINVAR:619705 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 854edfad-1ebb-4629-a596-0330812880ec CLINVAR:102684 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e9e3a48-5d48-4980-8b11-0e6116c78918 CLINVAR:102684 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2671aef9-88aa-474f-a05f-e52b515e0cfe CLINVAR:102662 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac975699-ebca-408c-88ef-96c0c0f65502 CLINVAR:102662 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc14b3e6-1967-46b3-a0a1-7d7cdd54cc41 CLINVAR:102722 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a3fb945-6910-4a65-b0e6-78234e6d76e4 CLINVAR:102722 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c44d09e9-6d20-411c-a5c2-ad2c48917085 CLINVAR:286662 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6fc59356-ccae-4384-90df-08a6ec32838d CLINVAR:286662 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad5e02d1-9c31-467e-96f3-37c970fa84fb CLINVAR:422049 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae2948b1-2044-4217-9eea-750521567176 CLINVAR:422049 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f57f936-28a9-49a6-bbb9-badeb6bde024 CLINVAR:102916 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 582ac9f3-c7ca-46e1-bc24-02cabadc9604 CLINVAR:102916 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8854637-d38f-4528-bd12-9bc19c961c3c CAID:CA16020739 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eda4d655-84c1-4f84-b693-ec51b76e5a2a CAID:CA16020739 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdbecd7f-d059-4fad-bf7d-3ccdd575ea71 CLINVAR:501777 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 771db84d-9c3e-4cbc-b87f-48b06cd769af CLINVAR:501777 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a68b46c-966f-4f25-9f51-e43e805fdfb7 CLINVAR:526521 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9927036d-ff67-4ad2-82cc-4d26930c6a16 CLINVAR:526521 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af2cb770-13fe-4bab-8a2b-3d996b62541e CLINVAR:286458 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da9a722b-a527-4ef6-9168-19fb44f625b4 CLINVAR:286458 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ed7c40c-35dc-4edb-b3e5-a08b10006053 CLINVAR:283971 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8930ec45-c739-417b-b7fe-db47f61783f7 CLINVAR:283971 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cea57570-6a1e-4c30-b2d1-a74aa0030d14 CLINVAR:288505 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fad86316-f5a8-4003-9a55-73320eaa2f2f CLINVAR:288505 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a1fb4d4-d7fc-4fdd-b616-8e83af5574af CLINVAR:188936 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff185358-fca4-4117-8204-820e3f026133 CLINVAR:188936 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7004cb85-fd8a-4e22-adb2-f58a08501254 CLINVAR:188904 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca3827e6-6b2b-40db-86a4-4283aa11a888 CLINVAR:188904 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed222b54-a2ba-498d-9db7-cc21dfb2f66c CLINVAR:189025 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c60ab9ae-3d53-49ff-98fb-8eb6de4f71ef CLINVAR:189025 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f894c08-897c-4188-8aa4-b7998b3d5b8e CLINVAR:189009 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e623ff5-d261-4d3d-9ad7-65e7ea877bb8 CLINVAR:189009 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a7c4c1f-8913-4285-a5c3-0ef46cad1989 CLINVAR:526535 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8091a157-c94c-4231-a838-6f9457322f58 CLINVAR:526535 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9413aa0-d820-4617-9bf7-d0f19ad1a34a CLINVAR:550713 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0b45b35-cbb7-4c3f-b580-23052a29b195 CLINVAR:550713 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3406b73-ea1e-4dfc-b9cf-70a6e68ab3b0 CLINVAR:556985 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eee25eb6-3c61-467b-9be2-faa2b407794c CLINVAR:556985 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 168f8866-0e9a-4de0-ba1c-ea30e1783f8f CLINVAR:932898 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7070ccee-499b-4f99-a225-798cb0a4e4be CLINVAR:932898 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dda19e2c-6f3c-4de0-8a8f-63e6ce415e79 CLINVAR:932901 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b883476-4139-42d5-8d11-1dd3605a2fe9 CLINVAR:932901 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b4508d5-e05a-4963-be56-7d1c29c335ec CAID:CA401361056 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 639e1cdc-f186-4f8a-a6ab-00316059cc1d CAID:CA401361056 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 847dbc82-aac6-4162-9939-9b4e4dbfffef CLINVAR:495665 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f02991be-dcbc-4744-aa5c-ad6e040cb85c CLINVAR:495665 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24d65687-f671-4705-b8bb-127afbe21917 CAID:CA658795235 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a1842ee-a12d-483b-a1e4-43ed42c49f71 CAID:CA658795235 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81dad5a5-1a32-4e8c-8860-233c6a4f9ba1 CLINVAR:370357 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b9efc87-817e-45f7-b08a-690f46e3ea4a CLINVAR:370357 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d977d6ab-8975-4ab6-b222-813ea5c1b624 CLINVAR:370124 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0479004-af84-4140-b51f-9f28ccd78776 CLINVAR:370124 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27526667-5cb7-40d8-8ba6-4b887fcab8e4 CLINVAR:189144 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11e57a59-b664-4b80-a353-e910f005a446 CLINVAR:189144 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d912a609-31f8-4ef5-b4dd-131c8248476c CAID:CA401364293 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b2768293-3fb2-4204-a254-ebb352c9f83a CAID:CA401364293 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9b6ff7b-0dc5-45e3-b5eb-17ed7d93e0b6 CLINVAR:574052 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd676860-e7d5-478d-b689-ed76372582de CLINVAR:574052 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bce9889e-bc52-42d5-91e8-1bb218d47c61 CLINVAR:556975 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54ecf632-e2d5-476c-a455-0e370324a357 CLINVAR:556975 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe567092-ae33-4699-b0d5-d0fa2fa7a4df CLINVAR:102894 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c322a7a9-12a4-40dd-afac-0761cad95fb4 CLINVAR:102894 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c339ed2-a264-495f-94ea-2490b51c7e4c CAID:CA16020887 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7480831c-5c69-4cf4-a861-e299e206e464 CAID:CA16020887 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45f7bffb-0353-48b6-8d26-bcd3a73c9c6d CLINVAR:13329 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8417c69-2268-4233-9657-0b3dfc9ac4c1 CLINVAR:13329 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff82bcb8-8dd7-4658-9d14-8ad9add00c33 CLINVAR:43568 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f9d85bb-35ab-4024-9fc8-bd59f24f4cd9 CLINVAR:43568 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77744ee9-c44d-4d7d-bf5b-7b398ab9c63a CLINVAR:43495 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c6b8d4a1-da27-4a23-aefa-2311b0d6054a CLINVAR:43495 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 242ba880-d5e6-467d-ad0a-5ad3b159fcf7 CLINVAR:371781 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f46b67e1-e359-46ea-9545-f82196ae11c1 CLINVAR:371781 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2828b6b4-5273-4a09-83cb-c0039f574504 CLINVAR:178283 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88f557f4-c316-43bb-a36d-d8611e1bc29f CLINVAR:178283 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cec790a-5965-42e9-a2bd-7ed9fdf4a45d CLINVAR:92756 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2a5961c0-34e4-4fe4-baac-2a237d3bb6fe CLINVAR:92756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71ad6eb7-0589-40de-af7f-8a9c2ebb0faf CLINVAR:265979 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9709dc5-d1a3-43c3-b806-f3a8d4e55505 CLINVAR:265979 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f926799-ba6e-4e65-99c0-b66416fca298 CLINVAR:549981 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a53caf5-7a57-4279-a4da-0a3531d4f19f CLINVAR:549981 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3765c9e-c98f-453d-a8f7-b366049180a2 CLINVAR:177844 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 334e4ff4-72bb-495e-a247-3ef2fea43252 CLINVAR:177844 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a056c808-40d3-4986-8ea1-785ec994a343 CLINVAR:13975 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 549f5790-1064-4e31-b9d9-55edf47a64d6 CLINVAR:13975 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 675c87c7-ebed-4680-b603-e04ec853c07a CLINVAR:40370 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c425bf6-7d71-4629-8179-18a3ee3cfe5a CLINVAR:40370 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a61e6057-f5be-4f3f-b9b9-58e483417ce0 CLINVAR:225136 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1e6529fa-f084-4cef-904d-0eeb3fd9b951 CLINVAR:225136 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a54f407b-6980-4eb6-a3ae-c2126f5265fd CAID:CA16020831 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 854b9003-45f5-43a5-82be-37340d9a8344 CAID:CA16020831 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ed2e28b-f241-412b-a875-de3c7465fc0c CAID:CA16020832 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe16fc79-a643-4f1a-bc81-b18137979b70 CAID:CA16020832 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7832fd2f-1ce0-4b74-9e27-c11e78274cf3 CAID:CA6748883 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f62085d7-23a1-4bb0-bd82-a1537ea4423d CAID:CA6748883 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32d11373-9235-45f6-9efb-051d8967b6a5 CLINVAR:177876 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5218e3fc-d78b-423a-b5dc-1c1ccb13036b CLINVAR:177876 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44477084-bddb-4359-a2d1-d73021cd6008 CLINVAR:41443 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05b6a3a1-bc8b-4c53-a8c1-32fec31d1709 CLINVAR:41443 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 968f35db-b6dd-4212-8b94-b439dffddb38 CLINVAR:13964 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4a1a1e7b-93c8-43e3-a731-5d273c8b6322 CLINVAR:13964 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7846f35a-357b-49ae-afd8-3b4e9b8c9c19 CLINVAR:561347 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5a4d174-cba3-4478-896a-f549f88917b9 CLINVAR:561347 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 792f29ec-7be1-4794-a899-bdc5c8bfb9a9 CLINVAR:222774 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03467b77-ff7f-4c0a-8bda-ae673f2b3ac6 CLINVAR:222774 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 222cbc81-0b17-40e8-85e1-23bc79664f33 CLINVAR:477722 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f71cb6e7-e951-4d6d-b8c7-172b0ef13502 CLINVAR:477722 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d303ab04-21fb-40b4-9f1e-6ae753e6e4ad CLINVAR:359048 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef07383c-b845-46e6-a24e-14b431488ea2 CLINVAR:359048 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e367f4b1-3a94-41e9-a803-ac42a9ad3c61 CLINVAR:40654 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f4609ba-62ac-4ee4-b520-cf20579fecdf CLINVAR:40654 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 365bd74b-20eb-4a29-aa99-4f016041cb64 CAID:CA16020836 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9aceb0d4-e619-441a-998c-5f4c9c2ca19b CAID:CA16020836 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df349999-2e34-432a-b08d-ff808f42ebec CAID:CA16020854 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 852812d1-2472-471c-a50f-2eb08087b6e2 CAID:CA16020854 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2762e648-1831-4822-922f-d4ff70ffa61c CAID:CA16020922 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39c13228-3a71-4cdd-86cb-5e68942772da CAID:CA16020922 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd126dfa-58d8-4daa-9eb9-eb5805d3a883 CLINVAR:228282 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65a3afd5-0586-4444-874f-15dc48ad232c CLINVAR:228282 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99b89537-29bd-4054-b5e7-f66edcd89879 CLINVAR:229012 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01681c17-1f6c-453b-8042-209c78d2e64d CLINVAR:229012 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fc2c570-f61d-490b-b110-fd7ec620bd00 CLINVAR:43185 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e4a6a11-c68c-471c-bcdf-6b59b3094998 CLINVAR:43185 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62aad30b-3a00-4003-9f16-2f4fb9d3ef09 CLINVAR:569590 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c3ed755-6f44-4074-83f8-fc7403aaf419 CLINVAR:569590 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed9ead5c-df87-4b91-a679-d71a7bf1a496 CLINVAR:181553 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3dd59de2-02eb-4799-bd94-5bee60deca85 CLINVAR:181553 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd9dd9fc-ecea-4153-9cfd-4b9961f78c6e CLINVAR:561935 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c65e245-ae50-4ec4-b5a6-039fb1dd031c CLINVAR:561935 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7ba268e-66cd-473f-a13e-2e9204ebebbe CLINVAR:228273 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7041a3a3-f8e4-4d73-b5d6-f54ea92ded6a CLINVAR:228273 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cae8b6b-0625-4d0d-b0f8-fe1b74751ecc CLINVAR:40388 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f780e702-810c-4217-b3b5-93e8c8e6a14f CLINVAR:40388 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19e12cce-8712-4618-b53b-7459df0baf7a CLINVAR:280033 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a21d6924-02b9-42f4-89d4-1aa7b7a8feea CLINVAR:280033 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54dfc799-c41b-48db-9b01-e7cdb9d22527 CLINVAR:280939 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3dbad2c3-fa88-4d52-be57-49ecff5c1538 CLINVAR:280939 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1788d015-e13e-448f-bb3e-825a1dff76e0 CLINVAR:575203 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ac83366-1cbe-4f75-bda0-a80ab1777029 CLINVAR:575203 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f4a7277-a024-48db-b51b-466e77836d96 CLINVAR:427613 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 065d0af7-5ae5-4ecd-b6df-b38c7a4655ef CLINVAR:427613 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 085c850c-2641-49c1-87a6-7c9e87cec474 CLINVAR:427621 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dad9ce43-8881-4384-81a3-2467289a6531 CLINVAR:427621 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cd9d021-a3b6-44c3-aa1a-7b4736f50911 CLINVAR:427619 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24fd338a-721e-4421-8506-af3ba0780401 CLINVAR:427619 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 938bf504-767b-40fc-ad2a-770d6c2b74b5 CLINVAR:449089 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6014ce39-9d5e-420c-85c9-6f7be21d3c15 CLINVAR:449089 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 293065e6-e7e0-448a-9db7-f0a04bd7ad6c CLINVAR:142088 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28c8035e-2f5c-48fd-b075-2118fa3d4142 CLINVAR:142088 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34e29fda-df8e-4bf4-a93f-51c5a8a22ae7 CLINVAR:301423 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9c89689-3ded-4c10-8744-53bea6b7cd13 CLINVAR:301423 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73244286-50e4-462e-839e-fb0d5f9e2a20 CLINVAR:428268 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4be329e1-3c74-4ab6-b7e7-5efbba057f88 CLINVAR:428268 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7556f0ad-d92c-46a3-841a-1be689cb8d62 CLINVAR:189414 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ed14cbd-6fa4-400e-b363-0dea0ca2bd62 CLINVAR:189414 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1910b628-f6f0-4343-a68b-0530c6c07418 CAID:CA16020943 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d712861f-ce51-451a-a636-60667a5ca066 CAID:CA16020943 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 036af9ad-a82e-4311-9c0e-a0b0f759cc84 CLINVAR:102583 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45c8248a-3213-48b3-846d-0afcef2300ec CLINVAR:102583 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c3a9b3e-1184-4ccf-8443-888befb5b812 CLINVAR:102922 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 022ea881-1582-49fe-8e69-312f4b6b08bf CLINVAR:102922 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5feb147c-bd4b-4a68-a30b-3217d5244ef8 CLINVAR:102879 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e740060b-5b5f-4ebd-a1e2-6dd8daccf603 CLINVAR:102879 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b1bbbd0-68cb-4d43-968b-8e889beadc90 CLINVAR:556894 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ca0585f-bd4b-49f3-aac7-4466781a49ec CLINVAR:556894 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78620cd0-4548-4c34-b7d7-156962148d5f CLINVAR:102852 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7bd68bc7-26e4-448e-b3a2-d29a6cc864ba CLINVAR:102852 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fc90803-da00-48b2-b54b-6fe8c64379fe CLINVAR:102782 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3fe044be-2045-42f5-b6c0-bcb50e99028d CLINVAR:102782 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7d5a924-4832-4b2e-8877-73fd5a299b20 CLINVAR:625290 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0999ac29-0520-4ad1-8aa7-1dcf3444b624 CLINVAR:625290 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83465453-1811-4812-8fe9-75d25e4642c9 CLINVAR:625286 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d281b128-340c-4fa0-a28b-2419331d9061 CLINVAR:625286 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ad2d093-ec50-4818-b871-f36098911ee8 CLINVAR:625287 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29442503-4004-4006-981a-901f0a2432f4 CLINVAR:625287 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39df797a-552c-4a96-ad41-d887fdb1450a CLINVAR:553851 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4e88c87e-df06-4771-b200-f2776ffa73a6 CLINVAR:553851 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec936d48-564f-4211-a01a-a9430a3ca90a CLINVAR:102618 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e103db8-d4e0-456b-bfa9-73847347de4b CLINVAR:102618 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ada2c66-5199-40fb-bf44-eb224d7a0de8 CLINVAR:625291 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73000ec9-4fd6-4793-b3ae-d8ad3c74db41 CLINVAR:625291 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4819927-bcf7-4d3f-8cef-48c566c4f5fb CLINVAR:120257 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7640cd73-3ad1-4f36-ac7b-9ba821df970b CLINVAR:120257 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 506c2e92-d23f-464d-80de-3de30c111fbb CLINVAR:120261 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ad2a13e-d67a-4af2-98f4-15820bc34653 CLINVAR:120261 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f56957f8-40ef-4f73-8745-000b129b57e5 CLINVAR:102921 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba88e4be-90af-4da8-8208-d55b80d68f8e CLINVAR:102921 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17be2ae1-80a3-47b1-8d7a-a24e353ddbcf CLINVAR:579 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3c69e6e-d41a-444f-975f-fa3b20119d7f CLINVAR:579 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ccc97d3-dd26-40e3-85eb-89c08a2e8fab CAID:CA16020912 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 66e6df22-c606-4ef2-8052-11c3a8b563a4 CAID:CA16020912 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecf334d0-2a4c-4d7b-b76f-9df362d44aaa CLINVAR:102491 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24877e93-e527-475c-a0bb-2a19bb6c2d8d CLINVAR:102491 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b41ed376-830b-4758-8a36-bd2dac82a9c9 CLINVAR:102763 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8eec227-bb7f-45e5-93b3-df2e82c394e5 CLINVAR:102763 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8731be18-0a9d-4776-a5dd-3d7c6853e722 CLINVAR:614 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be8945e1-481b-479f-9e77-ec45218a9239 CLINVAR:614 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 689a891a-ffb1-4e71-ae0a-0835e4ca781a CLINVAR:625288 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c09a07c5-f504-47fa-a5e6-0486dba6ef7b CLINVAR:625288 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bf4036f-6db8-4dbd-8304-aa42788eb6f1 CLINVAR:635217 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 62290296-2788-4579-993e-b0207cf571ed CLINVAR:635217 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acfd0930-c042-484d-a3fd-0a3b4d3de205 CAID:CA16020992 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c889499e-cdad-424a-b119-5ae5e6f1a825 CAID:CA16020992 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 682ae8b6-c477-4dce-a038-bbd1826e3209 CLINVAR:449488 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e79d7a68-513f-4487-a482-bfff61f39145 CLINVAR:449488 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 783276a0-500b-41ea-b01f-3d83db99ee13 CLINVAR:224749 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 959a75a0-d393-4ecc-87ef-2468605c9b41 CLINVAR:224749 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93dde100-521e-4732-9e09-fbccc623d0bc CLINVAR:102758 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1fb7cc87-12db-451a-b0d4-e30841616e3e CLINVAR:102758 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6939141e-3ae9-4eb7-8191-7ce84f039b88 CAID:CA16020953 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db6d4fe1-ba5a-40d1-8f7a-a7faf3deeb46 CAID:CA16020953 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1ac3674-5105-4bb2-8654-ade03a8d138a CAID:CA16020757 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d8e5e15-87fe-48e2-92cf-ccf7e715c397 CAID:CA16020757 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 024f0869-c085-4ab3-ac0b-972c67a69de4 CLINVAR:102656 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1873f397-fe8f-46d4-925b-8471862c0308 CLINVAR:102656 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26c372e3-74c7-4cd8-aa93-2a9c1deb73c8 CLINVAR:665198 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a549b6b9-35c1-4f87-ac94-433c35bb1b5d CLINVAR:665198 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bea2d61b-f518-4b9b-8873-62ec21f875ac CLINVAR:102806 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6accc38-fc88-4f51-b198-115f06a78791 CLINVAR:102806 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07762494-b3ec-4217-9c8c-8afed545867a CLINVAR:102793 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c8427c4-7aa7-46c1-a11e-c84531bc6621 CLINVAR:102793 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f87abe0d-a735-4874-a55d-9ef84d82e928 CAID:CA16020859 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65709e9a-5b6c-4807-b3a2-d892e9f99011 CAID:CA16020859 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f5a33a7-26b2-411f-b445-c45c4517e2a4 CLINVAR:102509 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f2ec4b7-72e0-4e52-b8b7-143173f2b560 CLINVAR:102509 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46516001-9589-4597-a954-7260a1333e2f CAID:CA16020946 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dcda0189-e5de-47ea-ae0d-7aeaeccb0928 CAID:CA16020946 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02a8b16c-aaf7-4981-9ca0-1ccc1f08915d CLINVAR:43325 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6126a58-ac1c-4f33-bfbc-e17a2fab0e01 CLINVAR:43325 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3303b74c-0e57-4007-933b-2ee9af3ffb84 CAID:CA16020803 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8518f0f9-a168-4919-b4c0-bdebee444cbf CAID:CA16020803 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33d6975d-11b4-4f58-8dd2-63b6b95fe2b4 CAID:CA16020971 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9967c00-d71f-4440-9f8f-3058c3410c01 CAID:CA16020971 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ee87650-7f82-4ca9-811b-6032aa72643e CLINVAR:102576 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef4a4283-a255-405e-94db-d44ee0ee3638 CLINVAR:102576 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e30faa8a-c985-4201-b920-74435fef6eba CLINVAR:102707 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15bbbb5e-275c-4f0a-8b82-a5c3a24ee22b CLINVAR:102707 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a112628c-dea7-4c13-bddc-7bb0592d6071 CLINVAR:102535 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9532b07b-8995-4197-93cb-2086cafd0faa CLINVAR:102535 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b333dbfe-4f1b-418c-9bd8-6df51f2bc256 CLINVAR:283894 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c25b364-77e8-4bb7-a35f-71eefc778d5c CLINVAR:283894 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 189ff391-05a4-4a2f-8ea1-f4a40b0cf749 CLINVAR:556334 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a55d32f-a3e6-4d64-95ce-eaa6967e6908 CLINVAR:556334 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc73b1f4-cbf0-4a78-a6ce-b82832d12208 CLINVAR:556881 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2663e2d3-11b1-45f1-b441-809793c8440f CLINVAR:556881 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e25e03ff-4022-462b-9729-49bf6c80e6a9 CLINVAR:196099 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92eef18c-a8f6-4a0d-8d0f-be9d8923ed92 CLINVAR:196099 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa318a1e-c49d-446e-b485-c2a827062fdc CLINVAR:44633 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eebdaf41-5492-4a80-9364-7e2d91c12fe9 CLINVAR:44633 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 137b5ef5-2d0b-40d8-9016-8332a7ff2e04 CLINVAR:438796 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 44d2d557-dac1-4fb6-ac78-041abb5586f0 CLINVAR:438796 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 138fd16d-db8f-462c-8ece-0e4620aa0fe4 CLINVAR:167260 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06dd3274-7197-4735-80c5-9953ed94eecb CLINVAR:167260 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47889448-ad07-4de7-a446-bb105d3bcbc9 CLINVAR:375946 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0582b85a-86e2-4453-a3f9-3a95bcf9a95e CLINVAR:375946 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04478f3d-8178-4cd9-bb43-29dbfb22ea20 CAID:CA6748704 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a7df2101-eb63-443a-b5c8-0ead4cbeba8a CAID:CA6748704 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ea2633d-226d-4ed8-a28e-1bf7479b7192 CLINVAR:630 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00034d95-db57-45e7-8e41-9c2431037b02 CLINVAR:630 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 267f6706-2be9-4174-890a-b21a55e490de CLINVAR:609 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4faa3229-5cd8-4f50-a11c-647afb1baafc CLINVAR:609 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ec5f406-47f5-459e-b701-345a187eac94 CLINVAR:621 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ce540ef-de29-423c-ac98-096ec9072365 CLINVAR:621 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceb172e8-de96-4974-ab4a-c535c068e939 CLINVAR:224753 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7417d62e-2c77-4da6-87da-4fdd1b7a2ed7 CLINVAR:224753 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35af6845-1a0d-4a7e-9a7b-c40a85451924 CLINVAR:166479 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04b98c43-3190-4379-81b7-cd0b606e577e CLINVAR:166479 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a33475ab-b4c3-4f47-8849-98734e79424d CLINVAR:178685 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e63a388-4def-4288-b50e-86e8b449a1df CLINVAR:178685 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d0a633e-cd49-46e6-b96c-28207c966dbb CLINVAR:932902 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 85d8b5f2-c738-465d-8bb3-439a7e8b88fa CLINVAR:932902 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6f1c0b3-9dc5-4ee2-a46d-40781db5cc26 CLINVAR:371235 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d3ba1f6d-e53a-4bf1-b7d7-de4c1dd69b8e CLINVAR:371235 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 938a8082-9ab7-49ff-bd02-ad5632a8f465 CAID:CA294887189 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b09a7600-cdf4-41c6-ac4c-c54e42c8e8aa CAID:CA294887189 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07475185-fde2-469f-babc-56f4bc35b6c2 CLINVAR:188841 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2343e596-1233-4f0f-81b3-1511df3465be CLINVAR:188841 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d792c944-79c2-4937-8206-d9b8530add9b CLINVAR:370651 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 33e819cc-1e31-4067-8319-6b733eb058cc CLINVAR:370651 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2c018cb-da92-4621-8def-13db3b4cf9e1 CLINVAR:189065 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7163460f-a1ed-4e2b-acf9-23e9180bc15c CLINVAR:189065 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c20045da-5bad-4938-802d-d3b33362e64e CLINVAR:550355 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d6ea3f4-be8d-4f94-87cf-ee3a1c0a9e00 CLINVAR:550355 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b506e2f-8614-4695-bf00-95c1762e2e51 CLINVAR:578595 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 691958bf-41c7-4628-a3a9-f1431504c41a CLINVAR:578595 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 782c755d-ac99-4ffd-a8e7-2f01319089c0 CLINVAR:560377 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 41c4c754-4cb3-4f05-84ca-1c76c433304a CLINVAR:560377 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9f68989-fa76-4ed7-bbeb-72d3f53b123a CLINVAR:654482 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0fcf6d6d-d3d4-4d3f-8707-7d5741a416ab CLINVAR:654482 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08d6bb75-4076-4c03-8efb-f0699e40c986 CLINVAR:637958 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37b0eb54-3400-484f-ab2f-bd4ce04bf41d CLINVAR:637958 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c370bf69-6c3d-4c74-a461-ec35f75fd3ad CLINVAR:188858 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8d610c7-2a43-4bdd-9018-4a6b102f58ff CLINVAR:188858 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52dc2eb2-0c23-4596-8706-ad03abed1399 CLINVAR:663894 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3afbf554-48ed-430b-8456-fbdbc38055b4 CLINVAR:663894 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be412cff-8311-4ce9-91d2-cf2dc53575c2 CLINVAR:372968 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8e931e51-f118-4678-ac1d-3ca52ffd8e44 CLINVAR:372968 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 883f4772-80ee-477b-9723-d0deb5e62fa9 CLINVAR:370268 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen acbeb238-6f43-4dd5-a9c6-955d222097b3 CLINVAR:370268 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c06cb1d4-788b-4f7e-84f6-a19d37104c21 CLINVAR:649354 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b89e710c-38f9-4c8c-a071-fa5aa6c26c70 CLINVAR:649354 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c34b54f-6ee6-44e4-8710-5d284c3484a0 CLINVAR:552368 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83880150-9744-4278-8cdd-707e49f160b2 CLINVAR:552368 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2058523e-3c31-4593-bb9e-158467725b0a CLINVAR:92479 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa7a6332-2c7f-4aaa-ab1e-8a5da3b1fa46 CLINVAR:92479 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17b25937-b045-4426-926a-3b57d4f4c54e CLINVAR:286229 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77435a7d-46da-4217-b568-df8434c7c9e4 CLINVAR:286229 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63044721-8628-4736-9d19-bbff0a511d4e CLINVAR:280063 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e41df3da-0a9e-4873-82c1-99a74329457c CLINVAR:280063 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3267e814-2563-4abf-9797-281497a8b124 CLINVAR:370904 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ef7afb8-ddda-453f-b505-d373e3dbb447 CLINVAR:370904 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea8c296e-9ea7-43b3-8577-4df893e1cd4c CLINVAR:429727 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 972e1629-a65a-4a89-9add-aa35eebbadb3 CLINVAR:429727 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b5ef0d1-e2ee-4359-ab4d-f4b0f8070f1f CLINVAR:4034 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7ed2052-b55b-47e2-ac07-cca3a3d2edbe CLINVAR:4034 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 373d5833-cf8b-45d3-9fe5-fde5c885ff0c CAID:CA8815306 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2855d735-43d4-4c52-98d6-04aa5ad65e9e CAID:CA8815306 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37271a59-5841-409d-a23d-305ffe08d60d CLINVAR:556265 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ca4d86f-17ff-410f-bd82-743334208880 CLINVAR:556265 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f36caaa-c610-4322-b138-de5f4a70014e CAID:CA294896907 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cde6b3cc-2d00-4884-b7af-741d9f0d7206 CAID:CA294896907 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 933bace4-82d5-4e48-bcaf-2ec7d3851341 CAID:CA913184909 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fff9c6ee-d067-441e-acf4-42a8873e60b8 CAID:CA913184909 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99f99475-1bce-4104-9483-6055b693a71d CLINVAR:188728 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3cd7ec17-5868-415a-a38d-bf32078bf382 CLINVAR:188728 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e8e14bd-4e10-4eed-8a3a-086fee561770 CLINVAR:426593 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c7e1e0a7-900b-42dc-9280-4e726477804e CLINVAR:426593 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3342f9fd-a933-498f-9bc9-c57936620e32 CLINVAR:188797 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f597e858-cc56-4cfd-b5b2-b0aea11bf107 CLINVAR:188797 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9620ead4-4757-42df-9a9e-e20e159dba4b CLINVAR:284093 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2018c235-b16c-4de0-98ef-4537bfedba38 CLINVAR:284093 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8274cc1e-a461-40d7-9c6c-961b5ab47d5f CLINVAR:379593 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7f3e0076-c885-49ac-9757-887581dd47e7 CLINVAR:379593 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7b45429-9135-4515-8536-2121b9099cf6 CLINVAR:279811 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f479241-5b5f-43b9-95c3-1e02d0fef6e8 CLINVAR:279811 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 893f5bae-b3fb-43ee-9909-2bb7740503fe CLINVAR:188902 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 187b2510-7fb9-4b3c-b36b-f166945479fa CLINVAR:188902 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 111235df-4ab3-492f-a457-ac81c4401d43 CLINVAR:188924 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 74a1cc13-89e9-4549-85cd-5297f92ca6d3 CLINVAR:188924 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 061c5678-cd53-47ab-901d-10764bfe27c0 CAID:CA658795262 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b5bc31f-63f3-4853-a8f8-b911ebcdb5b7 CAID:CA658795262 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b11d8647-fe14-40ea-b0c8-7795985c5903 CAID:CA913187393 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2bcd6468-91ba-4b15-b4c5-4a2f5597ee17 CAID:CA913187393 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ac3ebe7-ff0f-4d47-a8fd-370a8064bec1 CLINVAR:188903 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0c367f96-1919-4374-b905-551975d2d3ab CLINVAR:188903 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7859bf9e-9fa3-497d-8aff-0344ccab8b4a CLINVAR:499380 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7cfa6a62-3057-46c0-8b81-ca58e6d98198 CLINVAR:499380 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 197a4798-b227-483c-bc7c-6c3a6af0d5c1 CLINVAR:189184 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02dac007-2267-447e-a3f4-4ad517eb5f00 CLINVAR:189184 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 513ce85e-8d65-432c-9eac-1f1400390192 CLINVAR:189188 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d39c0b9-b6d3-465d-849a-d16f82a5f254 CLINVAR:189188 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0a2b494-2798-42e8-9aa8-93be5a4f7f04 CLINVAR:102788 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5daaca88-fe42-414e-b81f-5280d22b595d CLINVAR:102788 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c890e982-96dc-4585-97bc-602d38d383c3 CAID:CA16020973 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 30e97d5e-8f27-40d9-ab41-ca5f0adc2558 CAID:CA16020973 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e786417a-e48a-4c1d-998e-5a27bdf35417 CLINVAR:102569 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c3a6e52-a864-4e06-a5fb-6dac2b69a51f CLINVAR:102569 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3e1da08-2825-456a-b143-fbdca3771025 CLINVAR:102759 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a082f27e-07d9-41f2-af28-9b54b6bd2e3e CLINVAR:102759 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 207bf1c1-8f95-485d-9dd3-d8d8d056e754 CLINVAR:102476 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5b5f3b4-5f33-434a-ada1-2d013bfb4670 CLINVAR:102476 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ff63aef-b254-4280-adf9-75e55750d362 CLINVAR:561221 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c2bc4104-7961-45f9-8fec-d5641e7dad00 CLINVAR:561221 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae554ae6-0cff-4b83-aec3-4399ff24e297 CLINVAR:561228 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24b153f7-d19b-46e0-9912-06634c6a0296 CLINVAR:561228 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46682397-61e6-4e7c-bc17-459ab4ee4a5f CLINVAR:561230 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7cc7ad55-53ed-46a0-ac62-92cbecec5845 CLINVAR:561230 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43b7ee2f-ca59-4ca1-99dd-6f1c6a19f95c CLINVAR:561242 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 158f1140-60bb-400b-b342-9d30379936d0 CLINVAR:561242 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45e40965-681b-4a5f-aa43-7f85f8a05119 CLINVAR:642956 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0194d3cf-dd46-4e57-b403-7240e20bb4fd CLINVAR:642956 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9073313-327e-45f7-a888-36a4ae3f6909 CLINVAR:561255 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9bc26208-429f-44bf-99e3-75157ab7f5bd CLINVAR:561255 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3c4ac4c-3623-42ac-9703-e64441d969a4 CLINVAR:581331 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32ae7083-c6f9-4335-882b-19fef318f5d7 CLINVAR:581331 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10f30788-00a6-47be-b02e-c52dc329b32d CLINVAR:572808 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b06fe8cb-b868-46a8-a557-fdbe9f2ccc91 CLINVAR:572808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe9edf0b-28a9-4443-babf-b43a164fbc7f CLINVAR:370276 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c383642e-4f8a-4b99-83ff-7bb31cfe6a1c CLINVAR:370276 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d8efd7b-b881-48aa-a67f-8654e620dca8 CLINVAR:188996 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fbf4d3ba-82df-42c9-a82e-4395d0b1a130 CLINVAR:188996 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb55004c-917b-4b51-809c-be18a4a4c355 CLINVAR:553894 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cacccaa7-a6b1-4dab-90fd-175222fdb852 CLINVAR:553894 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc55dd0a-0115-4c8a-9aca-d93f77956326 CLINVAR:595469 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 568d99ec-9a16-49c0-b502-7ae58a121fa4 CLINVAR:595469 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1598c88-a0b5-4e8f-b324-d97a8689d65c CLINVAR:593486 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf81e899-eb2f-4e06-96f5-355f930abb3c CLINVAR:593486 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 693b3b1f-2c50-4a4c-b569-c0a9bb3c7dbf CLINVAR:183727 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6bf172e-2510-4b3d-bf34-60d2f3972a51 CLINVAR:183727 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51a8bc4d-9af9-42b5-a221-928713499c3b CLINVAR:491537 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d345e17f-4497-4944-b1e9-aee2008bb4aa CLINVAR:491537 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d76e1e2c-8e0d-42a7-8ffc-f7cab46f4213 CLINVAR:421431 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fcce7ac4-a66d-4331-8779-285deb190a34 CLINVAR:421431 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2ff003e-f2f7-469b-9367-7480d9d5e79b CLINVAR:406652 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 01e31e84-5e18-4174-93cd-54cdf46d9fbb CLINVAR:406652 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd90cd2b-3ee8-4808-8c44-2728c2d6d04a CLINVAR:449922 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11253aad-90e6-466b-ad13-91fbdff0f075 CLINVAR:449922 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5389efa1-89a2-4127-8ec2-eeb609e81594 CLINVAR:532473 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d6a1f8f3-4bbb-4a51-b88f-931951bb77e5 CLINVAR:532473 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83dea408-da42-43e4-b8e0-ba41c41664bc CLINVAR:428623 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d41c8b66-ee7b-40a1-b36a-aea299afb266 CLINVAR:428623 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 622547d8-7101-4158-805a-1711acbebb39 CLINVAR:186267 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 598a6ee3-8914-42d5-abea-b9718490c67e CLINVAR:186267 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6813bc12-8a99-428c-a87b-4728d573bf09 CLINVAR:545807 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6da25c4b-0abe-4402-9309-0ffb731881c5 CLINVAR:545807 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 802a2533-c569-464c-b858-8082ae67ff4a CLINVAR:265543 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 20ece930-8702-4eb3-919a-11a241ad47ae CLINVAR:265543 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44ffeb91-d37e-47f2-a0bb-acf89b469eda CLINVAR:483271 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ed46fb3-cdf2-4ef6-99b3-0b4c45555474 CLINVAR:483271 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 039b25c6-3d01-4bfe-a357-b93507ff1541 CLINVAR:485481 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b454a16-c4fc-4c64-8e9e-2c9aa22354f4 CLINVAR:485481 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0efda55b-a557-4247-880b-a7af07d71cdb CLINVAR:428621 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d23a825f-5351-4860-b2bc-1b8ecea24e3c CLINVAR:428621 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbffb896-c150-4b2e-a63c-3d0303e0075d CLINVAR:479518 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5dae768a-6c9a-412e-9c14-c9461d7bed6e CLINVAR:479518 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eebd055f-e540-440a-b71e-dae3281e5c5c CLINVAR:265511 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d8ece3d-2190-44d1-9725-40c529e68e5b CLINVAR:265511 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41211110-9361-4c03-ad84-99c2396f89fb CLINVAR:216589 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 484782b7-9abd-4268-be95-1bce5073095e CLINVAR:216589 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3ab327f-6e52-4b17-bd39-ad0a036a151b CLINVAR:142826 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5e53606-9371-48c3-ac59-a23ff844fb20 CLINVAR:142826 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a01285a1-bfc9-48af-97ad-eb0a728bd5b6 CLINVAR:463735 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3232525d-9af5-48c7-a35d-96b02b61d502 CLINVAR:463735 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac535b9f-f7c4-4b25-aa30-13e24996e336 CLINVAR:12237 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ea55dea-3dd3-4575-ac19-676ec89d3a92 CLINVAR:12237 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8b151e1-0793-4e9a-848b-a5549c42e00a CLINVAR:136065 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58875b39-f3bb-42e0-ae6d-19333e5a3b26 CLINVAR:136065 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab073309-a251-4b23-8b72-8125b7399a94 CLINVAR:479524 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24c2344a-122b-4525-ac66-d9fef8b578da CLINVAR:479524 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28eea4d4-85c1-4552-aa12-c0971e4e3759 CLINVAR:423041 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1521ad3-bf01-4ed8-a7a7-6d3d4426cf20 CLINVAR:423041 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f36d761-6cf4-4082-8113-00e1091ad446 CLINVAR:406654 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04488c8a-9c90-43ef-b358-a55ed7b4de5f CLINVAR:406654 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcd011e5-5876-40f0-9f54-f22803a67fd1 CLINVAR:481011 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2ec982b0-5b37-43d2-9942-a6932aa93e23 CLINVAR:481011 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a479803a-92d5-431e-b299-bc7f353efd1c CLINVAR:428631 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a674ad35-e55e-4ba3-b10a-af15ae73ac22 CLINVAR:428631 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9615e671-47fe-478d-8b8b-78c42b03ee13 CLINVAR:406633 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c245bbd-1291-486c-8317-575ef7a6d1ba CLINVAR:406633 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a422da5f-021c-4aee-b23e-9fb90a00e18a CLINVAR:418111 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 598410a4-dd1a-4deb-b2fd-b9a70f1f3eaf CLINVAR:418111 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bdad9ce-1ff3-430c-9a77-b34ee86bba50 CLINVAR:428632 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d138381b-25f7-4389-bffb-b080e10badc9 CLINVAR:428632 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 005ee7e4-afbc-4453-836e-3f279c1744a5 CAID:CA16020723 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb51af40-fc48-41f0-87e9-70aeddf5bdb2 CAID:CA16020723 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 825b8471-0869-4f89-ac6e-38cad1b4c2f5 CLINVAR:102514 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b32b6b01-5521-4d30-9a68-4bcca5800364 CLINVAR:102514 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c64f598c-a8bc-4910-9b01-aee3eff1dd9b CLINVAR:21389 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f607afe9-59e6-4623-ab03-4079c9136468 CLINVAR:21389 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e9b170c-f67a-40b5-ba26-09ce513c1d16 CAID:CA16020867 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 55dacb60-a17a-4b95-8215-08e5c447a6ca CAID:CA16020867 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d30c68a2-b2f3-48ba-b177-57aac46b5f06 CAID:CA16020880 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79b982ba-409d-4ae6-a2df-46239cacaed5 CAID:CA16020880 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e793036-9e61-4a97-b638-32d62f7e08e8 CAID:CA16020919 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 08380e20-05c5-4509-8529-b4b57d55bdc7 CAID:CA16020919 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aae44380-7d1c-4ae3-a58f-ac6fe5d96adb CAID:CA16020945 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca4f9cf7-523c-4e57-bc39-07b56efeebdb CAID:CA16020945 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08e4c76d-423b-4d10-8dd9-b9b9dd8575e3 CLINVAR:553594 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f7c0c32-2e2d-42c5-b498-f447b7beea22 CLINVAR:553594 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdf001ea-ac4b-412b-b5ce-8013d5c7c29a CLINVAR:164664 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e16e78fa-4617-4f81-8a29-72041bf41ddc CLINVAR:164664 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81a33843-c422-465a-baa9-458d9581d853 CLINVAR:561500 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 928042db-7fe3-4060-a05a-1247e62e7140 CLINVAR:561500 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e767e10-b1ff-425d-b436-da9e338e5901 CLINVAR:40389 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a85ee9b6-cd32-4992-90a5-ac6da02598b0 CLINVAR:40389 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df804508-68c5-4826-a594-7ef8ee1b63a4 CLINVAR:44603 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ec5c3c9-d147-459f-b87c-75724bd137de CLINVAR:44603 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13643be4-e10a-4db6-846c-6c3916dc8e0e CLINVAR:504514 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11cace22-4a24-4c48-ba33-b57102d61139 CLINVAR:504514 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d3fa289-c112-4e8e-801c-5d0b192da0b9 CAID:CA16020906 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fb90fdd-5bd6-40df-8def-ec7d2426e097 CAID:CA16020906 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 615cd487-9a26-4634-b080-0ae4a4517546 CAID:CA16020975 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c56e283f-edc7-42cc-8392-fda7d606ff83 CAID:CA16020975 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd7ae3fb-9076-4a95-b4a7-aa92be3c6332 CLINVAR:626 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen edfd0fba-61ed-4d6b-af81-3d8088f092a2 CLINVAR:626 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2534644-5ae6-4ede-99e8-4479a72f2864 CLINVAR:634 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e1a194c-9be2-493c-bd85-e050c1d9b7e7 CLINVAR:634 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3281e88b-b06d-4e7e-9107-3bcff271233c CLINVAR:625289 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0cc50e0-04e9-4897-9c89-31c61880865a CLINVAR:625289 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d10496ea-dee0-4cb4-b99a-70f213b4cbc5 CLINVAR:626282 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb1d8d0c-5edc-4048-aaac-6e3701691af7 CLINVAR:626282 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d896d5d3-c3ed-4939-9781-fbeda7d34e3b CLINVAR:523937 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e057b4c6-0c79-4dc9-a9b9-6dacff662f3d CLINVAR:523937 biolink:is_sequence_variant_of HGNC:7605 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8c9eb12-de55-4092-84c0-270088c545eb CLINVAR:429215 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 141e0519-603e-42a2-a788-4c1f891332c2 CLINVAR:429215 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dfb5bd8-5c71-476e-9728-70d352a69be8 CLINVAR:188878 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d98b582-9582-4933-902b-3f7be1f104f1 CLINVAR:188878 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91e37ba6-70b3-4602-8e31-fca97c92b8b2 CLINVAR:236537 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 835908e9-f34c-4f90-948a-13c42c451f90 CLINVAR:236537 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a625244a-f00e-4d35-8882-0de0ed4b5eee CLINVAR:166488 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 740e42ee-0db9-4554-89d8-8d3ba777c21a CLINVAR:166488 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a0916aa-c2c4-4a4f-9b45-4c2bf475370a CLINVAR:120284 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a017ee84-c48e-416e-80ff-b22845f1fed0 CLINVAR:120284 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0644841-6d2e-4e87-b0a0-8097db29c5fc CLINVAR:43298 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34e0ca3b-2984-4d3a-b6ad-8869c1618ca2 CLINVAR:43298 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b97e1376-d0d1-46bc-9ad4-891fe71e8f15 CLINVAR:44731 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df494737-22e6-4fef-9f73-ea74bdaae70b CLINVAR:44731 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 558184f4-75f4-4291-8e24-d4ee692b976e CLINVAR:44829 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9fd7f64a-622d-43f9-a806-3fdcd5ba6c0c CLINVAR:44829 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea222608-657d-4a0b-9756-06727db33e60 CLINVAR:40367 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bda688a6-dd94-4358-a95d-bfbd59a6a055 CLINVAR:40367 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 327bc77f-6a94-41ae-885b-2f8bc328998b CLINVAR:280446 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc6fc2b9-b6d8-43cf-acae-d6fd035ebb33 CLINVAR:280446 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4f4c0d3-8f9f-4aa0-9f73-b0f5e4de8cc1 CLINVAR:44832 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 47a13e1e-a833-42ef-971f-d78c22b3546a CLINVAR:44832 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69691c99-bd94-4abb-8b90-d1c4fb3f05e0 CLINVAR:375981 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 664f60b0-32d4-48c7-9c47-936c6c68c277 CLINVAR:375981 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0095581-bba7-4595-be4d-74e7a8beff9e CLINVAR:120263 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2271b1e8-910d-4e36-a76e-1e1400d8c8b5 CLINVAR:120263 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f9d2c79-3352-47f9-8df1-98775af806bb CLINVAR:120262 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ae2a96b-61a5-4021-935c-27e5605fe212 CLINVAR:120262 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 630fda59-26f3-4e98-982c-d2708a31a9bc CLINVAR:225375 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aca2fdae-77a0-4434-8861-f54f9758ac23 CLINVAR:225375 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6efe7cc4-9b07-41a0-8aaf-fcf7aed01d39 CAID:CA16020976 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67ff0b4d-6302-4cb3-85da-7a137f99955f CAID:CA16020976 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c740363-3236-4f44-aec5-3d3f606c7175 CLINVAR:102572 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 178975f7-f940-4597-8683-79e0f81cdd3c CLINVAR:102572 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdc001b1-6b6c-44dc-bda0-44f62a589f23 CAID:CA16020780 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 64732b44-b013-4dfb-a604-3ad8fd92a109 CAID:CA16020780 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c294fbd-1602-4424-bf9f-7751b90f24ac CAID:CA16020747 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40adeb5f-c30e-4f45-9d48-3bdd89f0ba8c CAID:CA16020747 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04bd1f3a-1bd9-41cd-9a2e-73f67775b899 CLINVAR:92738 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd5a6bf6-2b95-4fd4-92c2-5174567ed649 CLINVAR:92738 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3d09435-e92c-4923-ac33-40e376842350 CLINVAR:102743 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen acddbcc3-0b16-49c6-932f-b372bf584ca7 CLINVAR:102743 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2049811-3ae3-4727-b752-f7e3a0be19d1 CLINVAR:102747 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b687ac94-fd69-4289-ba43-8387d9ea0f2f CLINVAR:102747 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c359e6a2-c839-47e1-8c8f-012a622a1636 CLINVAR:102499 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc4a0f88-7a69-4150-b14f-8fcf554755c7 CLINVAR:102499 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4baf87d3-e530-4e3f-9562-04cab6d38956 CAID:CA16020894 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5de0c6b4-446a-4e45-8627-8b1f70466cb8 CAID:CA16020894 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b234a2ea-598c-422f-8c95-e6ac42efdb8a CAID:CA16020895 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bdd71664-4f38-43b9-84f1-23ec7491749a CAID:CA16020895 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44882224-0307-41f6-aac5-ecba57aeb38f CAID:CA16020967 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 80aa15c2-6e20-41b1-b1ae-d9a4afc0047b CAID:CA16020967 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fea0b8f-4f7f-4105-bad2-1c10996ea6ce CAID:CA16020808 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d82533c2-958f-4392-9d17-98a8398759bd CAID:CA16020808 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb7dd88c-6200-4c4a-82a1-cbe14d529224 CLINVAR:120276 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a97f2433-b90f-48e8-a0ee-543d853857aa CLINVAR:120276 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a605755-10e1-4813-b4d5-97047575110e CLINVAR:102655 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a0a4783-6bc1-44ff-8351-2ff86a6ad6a7 CLINVAR:102655 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dab9b08f-5fad-4823-8522-b05cc56470ed CLINVAR:102506 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60d69275-2384-4384-89b1-d5d0bbfbc310 CLINVAR:102506 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b53478e6-e685-4105-b7f6-1fc4b0f7db7b CAID:CA16020925 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e12854aa-4717-4fda-9798-ade8cac28cb6 CAID:CA16020925 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 796f3f60-cd0f-43c3-ba16-8924f79510bf CAID:CA16020903 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01d53615-56b2-47ec-8e77-16fc7b8dd92c CAID:CA16020903 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 894eb67f-8a12-4a1f-9fbf-6b0d3a476c1f CAID:CA16020911 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f51b48c5-6bac-4991-bd47-9ca4c29bb909 CAID:CA16020911 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbade840-74e2-4f68-856e-acd787053202 CLINVAR:102731 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 46197908-010d-43fd-8e0f-3eb6bf825c3c CLINVAR:102731 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02ef5007-9170-4e03-80f5-9bec514f0c85 CLINVAR:102901 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b457008-2b16-477d-9307-564adf84fa5c CLINVAR:102901 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 950fcfc0-c637-4020-a696-76afdaf56c7f CLINVAR:391813 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d81b614-5d50-4113-b6d0-ef9a36830d8d CLINVAR:391813 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b29f561-8747-41a3-97c6-3f28ae8ffaf4 CLINVAR:40674 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9083ffc-d884-4767-9cd1-67e83bedd9ce CLINVAR:40674 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdff0244-3b42-4ef7-9385-24067ae02b47 CLINVAR:180851 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a6fdcc3-0712-493a-9f82-57d1b8e4e73d CLINVAR:180851 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 067789be-4e94-49dd-b229-2a43b33c27b9 CLINVAR:561622 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6c64465d-b75f-4174-b84d-7631b349efeb CLINVAR:561622 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40b31c7a-71c9-4724-abde-e88008c89d56 CLINVAR:179760 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5cf1f15c-1dce-4e6a-8fa5-3981fc2cf3a7 CLINVAR:179760 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa2ee693-4a7e-497a-ad77-80edf0ddf907 CLINVAR:45368 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b7b9612-45e6-4ead-9d3f-2e12b07c40c3 CLINVAR:45368 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fb9df07-a5a5-4b25-931a-0c2bcb6ecd7b CLINVAR:48409 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6ce56912-4fa6-4ef7-a2aa-a5eea6a2ee29 CLINVAR:48409 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52913387-5df5-4a6e-8f98-dc2f898c8c38 CLINVAR:449490 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 80c29a3c-d1b7-4fe1-a58f-f5fe7c7813bb CLINVAR:449490 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b25ee9d6-d6ed-41ea-a1ee-993a9d8ca3e4 CLINVAR:178937 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3222ebe0-3735-4536-98f4-080812b67c0d CLINVAR:178937 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72e3049b-47ea-424d-9b32-252d3c97f8dc CLINVAR:102504 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e6249a5-91d9-48c7-bdf2-49e3d0acd19d CLINVAR:102504 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e1efacd-4240-4211-ae46-af6ef8a4c52b CAID:CA16020988 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27145f9b-739e-44b2-bef9-d4c0e7d1ad6c CAID:CA16020988 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9cff039-8487-4c85-a536-1871e5fd9e7a CLINVAR:427615 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0947f9ff-4516-46bf-8377-3ff8206184ff CLINVAR:427615 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff99d8a0-fd58-47ce-9f57-1dcc7229a62e CLINVAR:498538 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4410e8a1-f4e3-418c-b184-58659653886c CLINVAR:498538 biolink:is_sequence_variant_of HGNC:11720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89571dba-d61a-4f67-9471-01ca4b8af166 CLINVAR:561238 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be72c3ba-db6f-496c-b0a8-5c30fc328d8d CLINVAR:561238 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30d24211-f58a-45c1-8328-463548589bbf CLINVAR:561254 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df8e3b8b-1fd6-4e23-b0c4-691e96361521 CLINVAR:561254 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4af80fa-2bc5-4708-b77f-99f7c5e787e1 CLINVAR:633606 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1c8d777-69fb-4de2-ac6a-8e6549b999b1 CLINVAR:633606 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f5cf1f9-7436-4f23-8b6b-d53d2941ef61 CLINVAR:12365 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2628750d-98d5-4134-84f7-1b9dcdddb6a2 CLINVAR:12365 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bed6396-5b1e-4277-b6e1-beb1f67e81b8 CLINVAR:638853 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75d8b33c-5b3d-4fa8-9abc-3fd0e2c7500d CLINVAR:638853 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7aaf3410-a578-4b72-80eb-95a782f9ab1e CLINVAR:567576 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f8bcac4-25c9-46c3-b126-228bbe388eaa CLINVAR:567576 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04a473b4-38b0-4678-9e29-249e0f635a19 CLINVAR:491536 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1db1d2d-aef3-47af-838c-75fb7102f192 CLINVAR:491536 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d12b3dd-1f7c-47d5-8091-a5536bc073f0 CLINVAR:406631 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f5235b1-4ac1-4ca5-817d-1add1089ff22 CLINVAR:406631 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9394aee7-f53a-4f2d-934f-622a8418aae9 CLINVAR:439045 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8caf4df-06a7-4c98-a864-8ddc3c380962 CLINVAR:439045 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12c524cd-3657-4fe0-aed9-86dbc845c72e CLINVAR:496817 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen acbd6a74-2d6e-44cf-a851-afb6125f59f2 CLINVAR:496817 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 397cbc36-b833-44bf-8a19-be58f1aec539 CLINVAR:622 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 973b9638-4411-4cda-92db-455089227dc1 CLINVAR:622 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee2a07cb-f05f-4d64-8944-47933859044b CLINVAR:102834 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8de4a387-9ca5-4daa-b346-a7b11d25abe2 CLINVAR:102834 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ae7fb3a-a3fd-4317-8102-333539789f33 CLINVAR:370074 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4348fb85-ad34-49c8-a082-1963e74b75ba CLINVAR:370074 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cda87edb-f636-4922-8a9b-a2de9f9de07d CLINVAR:555797 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4c9dd6e-c6c9-4ec6-970f-058fd2010917 CLINVAR:555797 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1ad7a85-47e7-4c7c-9534-bb84813d00a7 CAID:CA16020996 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba39048a-fa63-4ac8-b338-21c2d3e2eeb5 CAID:CA16020996 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65170ea6-9f37-4e85-9787-1151fb312d39 CAID:CA16020997 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78149a74-1527-4eb7-ae94-eb31d3c41d51 CAID:CA16020997 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3eb9242-a604-4d73-a636-c64f61fb17c6 CAID:CA16020991 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a66d77d-13b1-49fe-ae10-934cfb2e11b5 CAID:CA16020991 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a777b7b-6ca1-461d-8057-cafde3ec4d47 CLINVAR:578 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6fb3c48a-2f0a-461d-8816-0f05e3dc81c0 CLINVAR:578 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fad1a96a-1dc3-4dda-b804-a5a64d521b37 CLINVAR:102609 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13bac68a-cb95-48fb-a8f0-6538c0dc7980 CLINVAR:102609 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d589ae6-ca71-4732-b499-1fbca73a5dd1 CLINVAR:102846 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 537d1308-8c4b-4e1f-ab96-37ffd2809ac8 CLINVAR:102846 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd7b56a6-60df-4975-a0da-be3798efc1c4 CLINVAR:805828 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d880843-5d9c-404c-a782-8a17b2cd0a73 CLINVAR:805828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4ad81cc-a352-4a30-8fd9-bf9be7247c8c CLINVAR:188771 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 899e41c0-dbc6-44e3-900e-24cd1b055b4e CLINVAR:188771 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 134aa9d8-8c53-4cc5-9610-ec8e9f4e50f6 CAID:CA16020909 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df3609de-4cf4-438f-9143-cbd89359e998 CAID:CA16020909 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75fdc31a-a365-4997-af56-bd091aef931b CLINVAR:842394 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 355627c0-88ab-4459-890a-726c1bab2610 CLINVAR:842394 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2660a820-8bc0-4b28-bf84-74111a134f06 CLINVAR:635216 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8739c50b-396e-490e-8c03-c9f25fb48f76 CLINVAR:635216 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd62bb04-d278-4fba-abfb-c70116f90e05 CLINVAR:102642 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30fc292a-3c5d-4aeb-bd64-497998b7b6c9 CLINVAR:102642 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83252734-c1dd-4419-bf97-4971a0d04c01 CLINVAR:120298 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be485637-67d2-45c1-aa77-9654e6dd63de CLINVAR:120298 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a06b0d5-a2e4-4d9d-8bc7-023d0d21b6bf CAID:CA16020910 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7bbbe69a-1c8c-4f61-bad2-26ca9acd7dcd CAID:CA16020910 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee166ee4-1053-4751-8c7f-379bb1901b50 CLINVAR:805827 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84cdaf78-514a-412e-85ee-2ebb49dd0b97 CLINVAR:805827 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c81ca791-01c7-4afd-bf91-a05c897c7a02 CLINVAR:102671 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 55adb0d0-52be-49f6-84e9-e8482d2a8810 CLINVAR:102671 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3782b9a-01a6-4163-b9a4-a65e67bde6b8 CLINVAR:120272 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a244f740-ce24-42e7-bff0-524c8c6a961c CLINVAR:120272 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2220af06-4ef3-420e-86a0-d9abf639a218 CLINVAR:372656 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 51aaeda1-f525-44a7-a07c-01e805e8fcbe CLINVAR:372656 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f308f6a-1a8e-4228-bb8e-dbd695fdd2a2 CLINVAR:40681 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6ed555e8-cc6d-4e3a-8899-bfdac39b1dd6 CLINVAR:40681 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee99466d-43f8-4240-8f0a-e56836522da9 CLINVAR:12872 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 863f705b-5a52-49ee-be0b-eb98cec11bc9 CLINVAR:12872 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 956c83db-a04c-4080-ac06-dc9b3bf65257 CLINVAR:40684 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a18e6ac9-1fba-4164-8f95-29434a0a2ea5 CLINVAR:40684 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67b37ebd-4a57-430f-8771-a1f0cfe166f0 CLINVAR:40682 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de65d305-74e4-4eaf-b02c-e328f840a2cb CLINVAR:40682 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d96fffe-90f1-4637-be24-b6279e0d2e52 CLINVAR:40683 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46b40db3-e444-49d7-a095-9eb8eb703e5b CLINVAR:40683 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0355d407-57e9-4cdc-9e04-f2786897ac61 CLINVAR:189041 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8676fe24-2cc2-4087-8003-64d4bfd73ea8 CLINVAR:189041 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f8b4656-d623-4c0f-a0cb-d0c93ff543cf CLINVAR:167113 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5fefde9c-b586-432d-a230-39ec2310aee3 CLINVAR:167113 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45981451-1389-4ddf-9654-b1ae1478dd0d CLINVAR:127823 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d9c4985-2e7c-4785-a511-da6cf01face1 CLINVAR:127823 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a05acc25-aa4a-4f8c-adbd-d42a4a774419 CLINVAR:230764 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b48e7f4-8915-4316-b8fe-ef922ceb730a CLINVAR:230764 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e543ea67-b96e-4e39-be9c-a962682b1a6c CLINVAR:245851 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f520d0b-b397-46c9-b2cd-a0cb36d28bdb CLINVAR:245851 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaf34376-80a6-4037-9480-3594cd0e0de8 CLINVAR:246429 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5e128dc-47f3-428e-b82b-d03556c58823 CLINVAR:246429 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2152415-aaee-4f38-8491-2481e3d8a1d7 CLINVAR:376624 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ef3f731-4afd-45af-af6a-41a361accb22 CLINVAR:376624 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71664d4d-1cda-4dd5-aaf6-a1d624c5223a CAID:CA16020955 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b31edd76-1019-4b24-9f71-1f35a30b4084 CAID:CA16020955 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97fa7e4f-6fc1-4a9e-b789-2abe63a9e29a CLINVAR:4842 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c862fb05-c0fb-4865-8cc6-5352056b72b7 CLINVAR:4842 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54f16f5e-5e2d-48fa-946c-9cfe9d1f8b19 CLINVAR:102918 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 199ce860-b704-4681-9097-43fe48fe6dc2 CLINVAR:102918 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f055f9d-175f-43d7-b894-bd241caf19c0 CLINVAR:102566 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f2ab1c9-c306-4dc0-bb33-68ca46f5776e CLINVAR:102566 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed1251e1-755f-4dbe-a524-71e8901bc08e CLINVAR:987756 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4969fd1-0c92-4dd8-ad42-5886a5c44b99 CLINVAR:987756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97d926d5-4038-47d9-a1c5-eadf728e3b1b CLINVAR:987755 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 888ffdb5-4854-4aa9-b8ca-a3554194e36c CLINVAR:987755 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 552ee475-2e19-4bb3-9bb0-e5793c35c956 CLINVAR:102544 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b2197c19-47e4-450d-a0fb-e9a176bc1cc8 CLINVAR:102544 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca538451-cde8-4d0b-898d-68bc409488f9 CLINVAR:102560 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ea10d1f-ebc7-43a0-998d-5e6c7ca24a83 CLINVAR:102560 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58a297bb-1a2c-4ca6-b00a-20f62a2d7c0f CLINVAR:102550 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e065cbe4-8cc9-4205-bacd-2403b28d380e CLINVAR:102550 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 153f6d4b-5bae-419c-88d1-0afe03681072 CLINVAR:987910 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae2489c0-1996-4722-9b9d-d14963edd190 CLINVAR:987910 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b218888-2e3c-481d-9ff1-1a4d3b355a27 CLINVAR:102714 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc3aa120-0825-41b6-a2f4-bad4cc41a264 CLINVAR:102714 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef67d0ca-6935-4b86-9365-205d7fa749b6 CAID:CA16020875 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8347abf-4ab7-4ee6-8ffc-afa6a3f006d7 CAID:CA16020875 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a3cc7ae-dc40-4e07-a91a-1e71f88c2aa3 CLINVAR:574672 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bae787c6-8603-4fbd-a75e-5cae674caa63 CLINVAR:574672 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa699f75-b33f-4715-aa52-a158dbf1a390 CLINVAR:428622 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ba0aef7-03f2-431b-9f5b-e51ab98573dc CLINVAR:428622 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f79cc14-f91a-4005-96b3-8137f0af7a8a CLINVAR:265635 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fff6e5fc-1be4-466f-8a80-d4f65ac24915 CLINVAR:265635 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 856bb1ef-55dd-4aca-a4c0-4c84bc1b6814 CLINVAR:439040 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8031e71d-f181-4bac-a5bb-d82121f743e2 CLINVAR:439040 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 500c55fe-a527-4a86-9b6a-f0e4b0d28b1d CLINVAR:428633 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a49f7678-81b4-4a09-bdbb-0d963b29ad2a CLINVAR:428633 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2193dd16-864f-494a-9ce3-541225f4fd5a CLINVAR:491497 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a62d569b-c767-439e-8720-23686843a0e8 CLINVAR:491497 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ddd1e42-0b20-4dea-8d59-ed23896f5ab6 CLINVAR:422539 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0d9ba300-b82d-433e-a9a7-bf11e857076b CLINVAR:422539 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aae7e329-15d4-4dee-9b2e-24e23b6604d1 CLINVAR:449339 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1658cf19-6984-4dc0-81da-d77e8c4243c2 CLINVAR:449339 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecbb1518-c2f6-472d-baa8-cdba8fac1b18 CLINVAR:545756 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7203cb03-59e8-4310-9492-3d26c071938f CLINVAR:545756 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24be9fbd-9571-46ed-a0c4-7d4dc93ad175 CLINVAR:234610 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59ebfb18-5830-4f7a-b2d2-e1623cd8e7df CLINVAR:234610 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c608da5-7180-4bf8-95ea-46ffb6ee45d4 CLINVAR:532477 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b42a3bf2-676f-4846-b090-defb486a4f02 CLINVAR:532477 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d9f3991-cce9-46bc-8a91-f181f1f1c9b3 CLINVAR:182376 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0871b578-fa52-48b9-87cc-e314e058fb52 CLINVAR:182376 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9d0805d-3621-403b-a541-8eebf2a4fc1a CLINVAR:185252 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2da13142-49a8-4fba-889d-9a8290022568 CLINVAR:185252 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6f32fdb-93c4-4412-bbfc-c009e95f17dc CLINVAR:140781 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84e1485e-865e-4033-8323-9c9ce09c3bea CLINVAR:140781 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen facb7483-50db-4a5a-877e-925c81170e7f CLINVAR:420613 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f889dff1-868f-464b-86d4-b8357d78c303 CLINVAR:420613 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f002468-ee61-4b53-8624-3e7e579aff7a CLINVAR:532441 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1acfaaae-d37e-4c34-b80d-084da2266490 CLINVAR:532441 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6d38ede-3959-4f8b-b06d-53fdb5776194 CLINVAR:406676 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12221da6-fa7c-47e2-a0cf-64eed800528b CLINVAR:406676 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c130f151-ee55-4559-9190-5a7727f67833 CLINVAR:428624 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 563c071f-8bd2-4e4a-903a-c88d98a2b720 CLINVAR:428624 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adf90f72-adf3-42c0-bf58-1eb7e5f75612 CLINVAR:496818 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8fa213b-ba70-4192-a8e8-58057889e1e2 CLINVAR:496818 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9a158a1-35c4-450c-807d-aaff5dd75a59 CLINVAR:421050 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a6e7c33-b69e-477b-b76a-ffa438cbac88 CLINVAR:421050 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a24fad81-7d85-49be-a145-de0fa5bafa4c CLINVAR:485476 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 62bb9da3-39c1-4924-bffc-68578c9bada3 CLINVAR:485476 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6aeea2b1-9890-4c8c-9011-3a08e622114d CLINVAR:234812 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b1c6811-7307-4c85-894e-d2fa77a134ab CLINVAR:234812 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 672bb3a0-8330-47a7-813c-361dd3e41c79 CLINVAR:230175 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dcd26da7-0beb-45d8-a320-fbb017e6febd CLINVAR:230175 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fe339ec-0ea7-4db0-9089-45e4e378f384 CLINVAR:488647 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1298abe6-596c-4bf0-bf18-11ac9bfc6dae CLINVAR:488647 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 832e6fe4-829a-4fd3-8922-8b643bc15280 CLINVAR:406615 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d75c7bbe-9892-421f-9ec7-3e8c942b870d CLINVAR:406615 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 531c600a-44c0-4e42-b4ed-f07ecc113d24 CLINVAR:481173 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 116e979c-0629-4bfe-9136-fa4005d7ce9f CLINVAR:481173 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a997f314-698c-4f3b-bd50-074345085e08 CLINVAR:234904 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c91af869-1bc9-42a0-8738-f8170d435f5f CLINVAR:234904 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cac4df91-b0fb-4830-b64e-89c148aa8a07 CLINVAR:981224 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f959704-32af-4ede-87d6-2f4547958610 CLINVAR:981224 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14230ff0-30f4-400d-b2b9-01f30a03dc9f CLINVAR:46076 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 915532f1-07b3-4d9c-b006-d84fad147f24 CLINVAR:46076 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dee3968e-47cb-4326-8fac-76adec4be232 CLINVAR:102669 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 501bb430-f0d0-4cf6-a6e5-71112ff9464a CLINVAR:102669 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fecb514c-c11d-4f24-b3e5-9699c093c76e CLINVAR:554011 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a3b7ea0a-72e4-4895-979b-4c24e3c0752a CLINVAR:554011 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31f4a0c0-d345-4c21-a70c-2bc67e38d7de CLINVAR:102724 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 635665b1-2684-45b1-8cdb-52387f849262 CLINVAR:102724 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ad592a9-faaf-4ed2-848d-e3c7b76fb9ae CAID:CA386299637 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e3235f9-0140-4e5d-b706-966ecaf04a6f CAID:CA386299637 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47f0ec36-5740-4473-894c-fed7f9ac52a1 CAID:CA386295265 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5fb4ce1-5735-4503-94c4-61c9f2eb5262 CAID:CA386295265 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9475be0-263f-4718-bba3-e953d63d15c5 CAID:CA1139532470 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d211e131-d964-43d8-8c05-3f6e84c84d78 CAID:CA1139532470 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 614e7af6-14e3-47a0-ba83-40b6f5f1fef0 CAID:CA16020841 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 033abf42-257a-47fe-a750-8263f14ed0f4 CAID:CA16020841 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd95f60d-9f3e-4679-8e17-278b4445f064 CAID:CA16020766 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23dc8920-f075-4e78-8ff2-3ae414684038 CAID:CA16020766 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dad4ad40-1068-4261-b838-35a35cfbde17 CLINVAR:102733 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9261451-7409-471f-9e22-57d9f5e50792 CLINVAR:102733 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b8603e7-bcdc-4406-80ec-f0165cb058ec CAID:CA16020829 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6510e127-9bd9-4cc3-956b-bba8fa66887d CAID:CA16020829 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bbdbb1a-ad55-4aae-91b9-793691793c4e CLINVAR:102556 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4c90883-f334-422b-b117-77cdbfed30e0 CLINVAR:102556 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90d60226-32fc-4205-889e-762e2c3a5ae7 CAID:CA16020787 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c83ea07-f600-4f00-a3e9-5bcd48419486 CAID:CA16020787 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a23c25e3-5545-4b56-bbc9-f46afdf778f4 CLINVAR:92730 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6eb2c96a-06d4-4dca-98ef-37c7b4c9f17e CLINVAR:92730 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d58f2a03-cb9c-48b6-8551-e3bb22bed054 CAID:CA386304277 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 425845f9-67f9-4b9f-a9ec-e0d789d47cbb CAID:CA386304277 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b745f94a-1a99-417e-a8f1-4ebc7050c4d9 CAID:CA386295865 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 352070fd-0af8-4179-ba81-46202b342872 CAID:CA386295865 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95055877-45c3-400a-8fba-a54f1a076c7a CAID:CA6748922 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 699f52fc-13cf-4546-98f1-cfb8b12dcc46 CAID:CA6748922 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fd04cf4-affa-4bd0-b109-334b9eb6cd80 CAID:CA1139532533 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f2550fa-a062-4146-8aec-86fa4b7dd4a4 CAID:CA1139532533 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cda3c69f-3579-4045-9032-c314e05baa19 CAID:CA16020961 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1411b9b7-e6c2-4d19-8dc0-669523040531 CAID:CA16020961 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6326982-6847-48d7-aaa1-f54244754f7b CAID:CA1139532543 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca5f56c6-5784-40ef-ae0a-f3bb543fbb54 CAID:CA1139532543 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43247651-5947-477b-8621-38ee26a0b6c0 CLINVAR:102541 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69da897d-9bdd-400e-b1cf-1ae552e66ca4 CLINVAR:102541 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b87a16e1-0dc4-43c5-9982-a4b00b7f0045 CLINVAR:458082 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 374bb998-0434-4dab-841c-bf28f8f96745 CLINVAR:458082 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e76f6ad-0363-4e02-b98a-1affa338524c CAID:CA386304179 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3bd798b1-0267-41b7-8840-876d48d0e335 CAID:CA386304179 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 522b906c-a3cb-4b90-9450-3af4ab4b2e6b CAID:CA1139532534 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6146c866-cfb2-43b5-8ef9-d05ca09f0e8e CAID:CA1139532534 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d3a41bc-a078-4d50-9829-2a14a51e46af CAID:CA481332664 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9de0f242-c816-4f77-b4b7-7c0a8ab4d21c CAID:CA481332664 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83c9e1c4-785e-4203-8bce-9b3427c79bcb CAID:CA481333203 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0b1ba1d-0485-4d79-bf70-9c15467a3864 CAID:CA481333203 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e0d2dbc-19ee-4bb8-a630-85c8780af266 CLINVAR:571388 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9979d13-c206-49dc-b3a1-694b5328d0f9 CLINVAR:571388 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e38c657b-deb1-4d60-aca7-ce4a29c10dc9 CLINVAR:552279 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60e8e0d7-25b8-4f8c-bb95-d784152d1b1b CLINVAR:552279 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6e25a90-3a71-416b-9e9a-fb822b7c08a9 CAID:CA1139532590 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69cd4e0c-5188-47d9-8128-9ef1d387d601 CAID:CA1139532590 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e2dffb0-a3da-4e65-927b-64d6dfc2cb36 CLINVAR:631 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54bb4028-2b85-41f2-8cec-24da48bac30c CLINVAR:631 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e769038-d4b1-4a4d-9aac-1902ddb9b94c CLINVAR:555138 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 598243cb-3eb6-4618-a57e-3ea10d1a5a7c CLINVAR:555138 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecf3f7d7-f4fb-4bc0-a7a0-68a9e3273415 CLINVAR:102638 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81ebac35-2711-41ed-8b14-801787e62c81 CLINVAR:102638 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dcc02dd-e4ec-4cec-8d86-b43f3430d94d CLINVAR:102756 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 321ff57d-ac82-4ed1-9ec3-ea255b16c866 CLINVAR:102756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d2c8ad3-5b73-403d-8ff8-7b29a7b6a801 CLINVAR:102800 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 53a2d35c-0550-4690-9c0c-9542abbf8075 CLINVAR:102800 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50a0c861-dcc9-4b6b-9380-738fbd6fb019 CLINVAR:102796 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93d318cd-a5fa-44cd-bafc-b3c27b368a5a CLINVAR:102796 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac7dc578-6bf4-4e93-b821-e90ff1c75691 CAID:CA16020786 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 248a124b-8526-421a-9ce6-8c96bb620b4f CAID:CA16020786 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78aa0295-32dd-4b47-94b5-7a4fed18a312 CLINVAR:551658 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b38a204e-d586-48fc-996e-4f7038c8d144 CLINVAR:551658 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82df467c-789c-43ff-89fd-ee956a2c08dd CLINVAR:987913 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 04dd3929-ae7f-45ed-98a6-a7258228a89e CLINVAR:987913 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 888886f8-1117-4980-9363-c0c460442582 CLINVAR:102543 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c40e0442-d4c3-4e8f-8237-c074a8fa52dd CLINVAR:102543 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c712fcd-57ba-40ac-a032-44494d17b21e CLINVAR:102542 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42220587-18cd-4d04-8fa8-22482fecbdbe CLINVAR:102542 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a5b71e3-3e2e-4c8f-b019-b8b61f44a2f8 CLINVAR:102530 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46d00fe1-4df6-4b15-98f5-a4249c0bf636 CLINVAR:102530 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cfdd7be-8d82-4fbc-a01f-597e98e6485c CLINVAR:102621 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 62db6f41-3a78-473e-8211-c2a03caa3d39 CLINVAR:102621 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7e80414-e1ce-4a78-9cf9-b936ce29810f CLINVAR:102489 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e2318e7-1e95-4055-bedf-870d7d535852 CLINVAR:102489 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 276fea9b-7c18-4754-8c47-233faa2056aa CLINVAR:102734 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10a94da4-633c-4318-bb98-892f7f198be4 CLINVAR:102734 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1740f2bc-abb0-47d8-8d5c-543b0799c842 CAID:CA16020815 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44bc62ce-5570-4b99-af01-243dfdc2173f CAID:CA16020815 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08844366-b406-4cba-921d-f706ce300cc4 CLINVAR:102741 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78604d2b-7282-49bf-8ade-4c543d6c3e25 CLINVAR:102741 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8a1db44-9cdd-41dd-aa2d-93bb04b4fe30 CAID:CA16020821 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b77df982-baf9-4f8f-a26f-aaeae9b06d83 CAID:CA16020821 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d285d02a-94a8-4ab9-83a7-c7831f07b617 CLINVAR:102769 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac18a78b-87e9-41f0-94d5-9771b466196a CLINVAR:102769 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e57fb3c-e725-428f-8ee5-74d749d12e3a CAID:CA16020838 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13351a3e-2aa5-4015-9b53-ec81c697d3a7 CAID:CA16020838 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48ff38c8-b962-4fed-93c6-d0ccfe4b8203 CLINVAR:4929 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b167836-487a-4f38-8cd4-88eed1973fb1 CLINVAR:4929 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be62f5db-0468-4a40-b5d8-e59767abc7f0 CLINVAR:43230 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8972960e-c520-4f09-a19e-15f8c8a36843 CLINVAR:43230 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88120954-585e-4249-9da5-7fff124f83b7 CLINVAR:984798 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1e669bd0-e5c8-4e84-8d9e-069a6ab74219 CLINVAR:984798 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a3a5001-470c-42b8-91a7-39763c1512c7 CLINVAR:984802 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 633a50d0-1e66-4a4d-828d-d0b79436ebdf CLINVAR:984802 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d073f7f2-a9db-43a4-811f-00019f387696 CAID:CA658795253 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf1e00c0-c309-4569-99f2-fd29a2b8119e CAID:CA658795253 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61586e31-a76b-4ab0-92bd-a95b6c121752 CLINVAR:557360 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c537b98-e17f-4c07-a6e8-ef4446640976 CLINVAR:557360 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fb5b39c-ac62-45f1-970a-4ad29c23a09b CLINVAR:984800 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9fc7b0e9-ad8d-4021-a624-9147364201fd CLINVAR:984800 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ad3d937-6bd3-4a2a-a982-fb42bba8493f CLINVAR:371302 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0de288fc-0e43-40cb-8dc5-44feb79f8930 CLINVAR:371302 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e433b90d-a262-4d6c-84a7-522b51e7e9de CAID:CA401363371 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6c76e42-7ae6-4513-8dc0-22ce9b81aa50 CAID:CA401363371 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee099f33-c963-493a-a4b7-27d7cf3dcc4b CLINVAR:972762 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 191fc6b3-8963-4acb-be47-12dad80f3fdc CLINVAR:972762 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd1286fa-8c56-474f-ae35-3c572958c79c CLINVAR:552839 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 300c3c81-a846-4191-83a6-caee46922f63 CLINVAR:552839 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 537eba0a-f93b-4673-afce-211c01ff83fa CLINVAR:423925 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29d1b5de-7ab1-42a8-b466-1b40387dd80e CLINVAR:423925 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c174d15-8c37-4f2e-bf59-22cf6176cb99 CLINVAR:370241 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15e47260-f28c-43c9-b10a-63ae1fb26822 CLINVAR:370241 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88f12371-dd35-4577-819a-d13f9990e0da CLINVAR:456415 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a7b09e54-df22-404f-aa66-7fbe9777e481 CLINVAR:456415 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c905183-9bf1-4a66-a6f8-88a0c541ea17 CLINVAR:555040 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 95c0f162-b630-4614-ac69-57e716daec98 CLINVAR:555040 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a703950-1f67-4248-a782-a892badcdae2 CLINVAR:370458 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d310f30-2404-42ed-9384-a8f9cb99d2f2 CLINVAR:370458 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1cb4b6e-881b-4413-9f2d-f2c14a036f85 CLINVAR:526523 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6c300f41-127a-4914-99f8-306408a8c119 CLINVAR:526523 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 238480a2-60f9-42f1-a238-b354d54be023 CLINVAR:371580 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd9b6c6c-78f4-4bce-ba28-1cee4ce34231 CLINVAR:371580 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a687c194-fe72-43d8-859f-14836aa13d80 CLINVAR:551530 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen afe3bdfb-3de7-4ab6-8a63-d9cfbc0cc788 CLINVAR:551530 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af65242b-d7d0-42bf-842c-acd3ac4742cb CLINVAR:371501 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8a03445-accc-49b8-ab1a-3a2b75d1e99d CLINVAR:371501 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da2565c9-b680-40b7-890d-1f567670dc67 CLINVAR:596146 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91cb378b-fd83-4a34-84b8-61da38e902a0 CLINVAR:596146 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20f312ea-02e2-47ba-8dca-3e448bef478a CLINVAR:189057 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39528fd5-0dbf-478b-984c-8e8cdd34a804 CLINVAR:189057 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a2c5ff8-601f-4f35-9545-bd12dc630ca3 CLINVAR:553981 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87afeb6a-7fc5-4316-a7cb-b85f16f0dde6 CLINVAR:553981 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d223915-60ca-4c46-83e8-8512d00f2de5 CLINVAR:550104 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1f2793f-b89b-4c04-9385-380bd4ea30bb CLINVAR:550104 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1980d5a0-49f5-4c2a-b423-ae11d3189958 CLINVAR:188880 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30562bb0-ddc8-4f68-957e-138f183758c6 CLINVAR:188880 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f49098d8-f55c-421f-bfb5-97341bcf0659 CLINVAR:556534 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e6253789-0ebb-411d-a83a-87595d1348c6 CLINVAR:556534 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce24e711-e4e5-4f79-b8ac-fb344b8103d8 CLINVAR:656144 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39c4f119-66f7-47dc-b250-db9463808dcd CLINVAR:656144 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0fdb47f-0d4f-48db-97bd-d022b4d1159a CLINVAR:282254 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1415653c-c32c-4312-b96e-59dd40dd010d CLINVAR:282254 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3198c5e-3783-49a7-8e3e-fff8cabc4b22 CLINVAR:597147 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 99ef852e-06f0-42f0-8ec7-f1dded865e57 CLINVAR:597147 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd8cf465-19ed-4b80-a9e1-54b72d3b7aed CLINVAR:370810 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d356e0bf-6640-446d-a0c6-3d24181fc634 CLINVAR:370810 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1801e55e-d69d-4479-a6fb-c839ef6df3b8 CLINVAR:497032 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be820d00-6e98-4205-8346-9010520ce1b8 CLINVAR:497032 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb51687d-e9f4-4dd9-bbf0-5d4bf3f54c00 CLINVAR:370263 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21eb4eb8-e691-4401-8651-cb38d5903e6a CLINVAR:370263 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f14f2da-5608-4346-884d-20c4a7288d0e CLINVAR:501294 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f9b0079-19f7-4d12-9ed7-f2c640ccd2f7 CLINVAR:501294 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9663db1-5eb3-4f40-8aaa-f5c76fde31e1 CLINVAR:4033 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6075663b-36b1-48c4-b167-2946f72fe6a1 CLINVAR:4033 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08597606-d3e0-4bb3-ba09-8949b1fec7c4 CLINVAR:370510 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0d3d05a-86fe-4a4a-9a07-7431bf16156b CLINVAR:370510 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f1eca03-4ab9-4971-9b71-983191e32b2f CLINVAR:371457 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84e918b5-e82a-41c4-8a43-84f5b945cf5c CLINVAR:371457 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a56eac35-5ee7-4758-b7f3-f221bc9d9108 CLINVAR:552165 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0125b911-9ea9-423a-9fad-c5fcc115e79c CLINVAR:552165 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b29cc80-98be-444b-8094-d6f8a9caf879 CLINVAR:420101 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a478537-ffe1-4650-8518-1fe0c34b9e1d CLINVAR:420101 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d4d0a96-dada-4c42-8fe6-d779d8e63082 CLINVAR:556959 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a2f20c57-3624-499b-a82c-33ce2b55b001 CLINVAR:556959 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a572eba-9e92-4503-9fab-9d9a8646998f CLINVAR:370223 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 611af71e-4a9e-428d-9525-9076ccadb5a9 CLINVAR:370223 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddc8672b-2ea5-4fff-9c0e-cde4a0e27ef1 CLINVAR:556853 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6972b0e6-7866-416b-b2ef-d139b276189d CLINVAR:556853 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af666a7a-6fe1-4dff-be2b-e016f5ff1b29 CLINVAR:188874 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0c0aebf6-a397-464e-ab82-84138536979b CLINVAR:188874 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c641b4e1-41cf-4f6c-8e19-6b089481b437 CLINVAR:694453 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7eb75a45-8e40-4ad9-bc0e-e4b8edc79ef2 CLINVAR:694453 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a76c4d72-e054-44a7-92f8-493e0a98f42f CLINVAR:371433 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b56761df-ecc1-4a91-af50-56bf1da7f1ea CLINVAR:371433 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1021ab5c-cd37-4435-9cb2-c469b6d2c3e9 CLINVAR:520974 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen da8497bc-a900-48e7-8481-8a1d06573b24 CLINVAR:520974 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01466a5f-0670-440d-a106-f65526a07d9f CLINVAR:370866 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87d759b2-1377-4d29-8610-c12527feb9f2 CLINVAR:370866 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a205d40-dd5e-41ee-b970-9ccbf335b035 CLINVAR:693996 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ceebfc10-5987-4745-bac0-f59084790edf CLINVAR:693996 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 344ecf59-1e8b-4e40-b28f-c974f5677e3d CLINVAR:632822 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b9a4d57e-daec-4254-b1ec-98661c8c929e CLINVAR:632822 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 565d9729-1fad-45bb-9b12-c7eceabddcc5 CLINVAR:633225 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0c97f8e-6992-4cc3-87d7-7c021d0f69b0 CLINVAR:633225 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9c72302-d22e-4193-b0a1-835f2d6e0e05 CLINVAR:423932 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d67e51c-ab43-4cd3-9b07-3dd25c30fff3 CLINVAR:423932 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2e524c5-9826-4397-a43e-53cf3d1ab661 CLINVAR:802700 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eff0123f-6fe9-4725-b5e3-69197d9f34e7 CLINVAR:802700 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dcc953d-3123-4758-b3f2-10be2ffed8a0 CLINVAR:179260 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bdb9ef11-ea41-400a-a356-f3d2fc633fca CLINVAR:179260 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48d5e0ff-9d71-4040-bae3-dd40cfc7f312 CAID:CA1139533052 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 87376572-5546-445c-bf93-b45033fcb98d CAID:CA1139533052 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec400026-4bab-465d-9ffa-df880aff7494 CLINVAR:561252 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1afead48-e3fe-46c0-8f57-6aebdb7c6fce CLINVAR:561252 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31178835-3084-4bea-a37f-1d3eb474573c CLINVAR:561236 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 71c36f13-4ddd-45e3-b06e-ce00949120bf CLINVAR:561236 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 564bec38-4ce5-452d-90b4-7748c8c5cd24 CLINVAR:561256 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4fb2b60a-7411-4abf-a5e2-b99018ff6761 CLINVAR:561256 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a0055d6-8d9f-4fc5-8810-dc09e6aad3a3 CLINVAR:561248 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd03defd-fbc7-4f83-a9e3-1e3f94702c7a CLINVAR:561248 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1206b299-b941-4672-8e08-2e252442ded1 CLINVAR:561223 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen acf58a90-87ba-4421-9ff4-0be0721879e4 CLINVAR:561223 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a74bdd8-f2a9-4080-b69c-94a6d6b9ca85 CLINVAR:376021 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ad88724-f500-4058-8f58-49d4a1ce02d7 CLINVAR:376021 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92780bcd-7d4b-47b3-b179-5f36ecd9517b CLINVAR:561229 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84464959-edbf-4b5a-a028-e1a801d99878 CLINVAR:561229 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90722f13-6153-48d6-a107-9c64bddf0186 CLINVAR:561226 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 76e184dc-f1d2-43eb-86ee-4753f674cc22 CLINVAR:561226 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ca1550d-ae54-498b-8c51-1a7923746d77 CLINVAR:561224 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d3290c2c-1d21-4f4c-8264-337f1a45afa0 CLINVAR:561224 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4a8dbb7-5fc5-4dcf-a015-97264b670788 CLINVAR:376022 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57ce9840-776c-4abe-8627-d8b70a01401c CLINVAR:376022 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42356bfd-24af-4b2d-a2de-57cee876da48 CLINVAR:376019 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 056fc3d6-a6d0-488f-b61e-32ea5da779ab CLINVAR:376019 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 583c6b6e-f64f-4217-888c-685d2abc63c1 CLINVAR:376020 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1b820c5-5327-4268-bfeb-6636199db50d CLINVAR:376020 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fc1983e-0a82-4479-993e-9d2acfae35a9 CLINVAR:561244 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a111767-a328-4b19-b16e-99c1b6eb6de8 CLINVAR:561244 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9969aaba-b174-4de1-bd3d-ebe70ffe3dcb CAID:CA16020802 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59050032-07ce-4f2b-867e-9f59fde57020 CAID:CA16020802 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f182580a-51c5-44c2-b6a5-0c2b353f57c7 CAID:CA386296833 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f73cfa5-9070-4e87-95cd-5453663f1dfc CAID:CA386296833 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77c7644e-3cae-45ca-b9ee-674db1516a8e CAID:CA16021000 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 86561216-341a-49ed-b2c0-4bdf285ca8d4 CAID:CA16021000 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc961727-2936-4758-84ef-aeb9fcf720f5 CLINVAR:1065372 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5674eba9-021c-4c25-94b3-199cbb684288 CLINVAR:1065372 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6df06504-4036-4ed4-b6dd-be5f310ea2a3 CAID:CA16020989 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ba4751f-2a45-4357-a080-43c0bcd239d8 CAID:CA16020989 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d06b2bc-785c-431d-9efd-eb6fb82da01d CAID:CA16020933 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4872c48e-976c-4cf6-a8a7-1c318b6f9b16 CAID:CA16020933 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d24c039-6c92-420d-a4b7-e757cd845036 CAID:CA386299729 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21ba29b6-fe8f-4811-92a3-8dfedbcfd780 CAID:CA386299729 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01de6a67-4191-4be7-9d9f-2728f8e402b8 CAID:CA386294521 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e3d08ac1-b174-4818-96b1-3ee1b9ac296c CAID:CA386294521 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2969fba2-bec5-43c0-986b-25b18993ff78 CLINVAR:225134 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8443512-df02-460b-9ecc-5de876fc15a9 CLINVAR:225134 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f92c234c-836f-4a08-a513-54304432d786 CAID:CA386296582 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a81d3f9b-7e0e-40e9-91c3-73df8e1103ca CAID:CA386296582 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51e94be0-833d-435f-afc1-8bb3913cb4ce CLINVAR:1065380 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6ffb05cf-dab0-4b9b-87c4-1ef80945145b CLINVAR:1065380 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9871772-6ce6-4b04-b6ea-4492a7a6815a CAID:CA378924686 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6cfc3117-b41f-4792-b005-47981683f4bf CAID:CA378924686 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17767f43-0313-49b7-9a37-f8ecb1e38f05 CAID:CA399806384 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa06c8a1-4e15-4a33-ac1c-bd0f6e5d2c1c CAID:CA399806384 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cffa5e1-0ac6-434c-8740-13a2ab318335 CAID:CA291224483 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e262ceb4-8d26-4ac4-a7cf-1b4dbe72f7a2 CAID:CA291224483 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e82a92c1-295a-4fd5-b287-c39beb4b3f0a CLINVAR:323867 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a74b7ac-5ef5-494e-8a2f-bdf8f6573c8b CLINVAR:323867 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b3e4bfd-99ac-4400-8db1-28691d606c55 CLINVAR:631775 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6ec9819c-c958-4751-90ff-b6ef8829aa42 CLINVAR:631775 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 966e286a-7fc4-4ece-9170-d858b8c79d84 CLINVAR:953020 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74c52526-5a28-4574-9760-4c48128a8b32 CLINVAR:953020 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9b6baff-5c35-4530-a785-f2843183e156 CLINVAR:426669 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c81cc24b-7881-4698-b870-7d262e2194e8 CLINVAR:426669 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a0f2fa6-97b5-4322-842a-cd02921f880c CLINVAR:953003 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c9e5979-a39f-4d49-9e90-a6bf345cf456 CLINVAR:953003 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e599d51d-328e-4c4a-9ca6-8a576b61c5d3 CLINVAR:417956 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9246f4f-99cc-4b9c-abc4-9f2f6e0d8b8a CLINVAR:417956 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bd6709c-814b-43c0-bf38-c1034f30fac0 CLINVAR:953059 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc61e103-ecb4-4e76-8435-8834b4cc31e7 CLINVAR:953059 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ecd9438-3239-4030-8903-b44a4e068145 CLINVAR:695458 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 020c66ed-b047-4c64-ae8c-7a8cbe84bc78 CLINVAR:695458 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 609deafe-f3d2-404c-84d7-9f12f72a61ea CLINVAR:323870 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 562ca645-9d02-4182-8265-b23b11b13277 CLINVAR:323870 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 067b5727-2e9c-4161-8afc-244fa705adb0 CAID:CA8602626 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a18dec6b-f621-4630-93ae-8b5d754ef8b1 CAID:CA8602626 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e68d2e78-e97f-4a48-988b-3a312bacb5ec CLINVAR:2901 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00940f3b-80c9-42f3-a8dc-d9f96cf5072e CLINVAR:2901 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c871f8b2-c36d-4f3f-bf2a-99ee3ddbf0e0 CLINVAR:225393 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d2c98452-1f89-4d36-af4e-a2d999440b69 CLINVAR:225393 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0e35770-023c-40dc-aae5-53b59b4ffe0e CLINVAR:953015 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bdd5b0d6-46bb-4e21-9792-54042a1fd5f0 CLINVAR:953015 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6474928b-9920-4e54-890e-df05e6b4a002 CAID:CA913189226 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60707110-ab4f-4624-8994-fa60eb0cfeee CAID:CA913189226 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 095f0ee8-a207-4a37-a4a3-4b28d9de3380 CLINVAR:2892 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8caf20ad-e77e-4737-9d38-a24fa66ed1dc CLINVAR:2892 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beada231-bd82-456a-bb90-6c0322432748 CLINVAR:953024 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd4a602c-a48f-4523-b40d-7d9dead35330 CLINVAR:953024 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96ce3402-08e1-41b6-84db-934d50e2d498 CLINVAR:953041 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78d358b9-764a-4e94-8dc2-30fa54c8498f CLINVAR:953041 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce04a6fe-8bad-4d28-a858-81191970b93e CLINVAR:953047 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f517fdc-ce63-4a4d-bc79-8d7b796ad0e6 CLINVAR:953047 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bee4c82f-2f03-42c5-944f-5b4e5ecb949e CAID:CA399805421 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18d4de86-65b5-443c-8616-41abdebcbffe CAID:CA399805421 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fce4bdf8-36dc-46fa-ba6b-80971563af0b CAID:CA399805793 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39633d82-99c7-4347-afc2-1800016ca863 CAID:CA399805793 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82367df1-0dd3-4646-abd3-fe126807e794 CAID:CA913184940 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d71bdc4-c87d-4916-9f17-979629550899 CAID:CA913184940 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31ae8a49-c2e6-426e-9f81-1f4fe2fd6500 CAID:CA399802411 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 35f60ee2-77d9-4d9f-877c-6f979738fceb CAID:CA399802411 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75ba03fa-2d0e-429a-b3af-73db9c829b2d CLINVAR:952999 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f067af8-b9dc-419f-b640-f04001227efb CLINVAR:952999 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adc7a2da-827f-4d8a-8d2c-2802b5f0c3ea CAID:CA658820875 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a7d9be1f-ed21-47f1-b9ce-1a4d686c712e CAID:CA658820875 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 558263c3-b805-40d1-bffd-e00717f2b0a3 CLINVAR:627066 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0dae6c9c-df72-4289-abff-089b3f845617 CLINVAR:627066 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ffc6f1c-58ea-4179-8e1a-e66e4d4fdcda CLINVAR:953043 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ffc15bd3-6b69-4e56-9382-83e40f8ba669 CLINVAR:953043 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15585306-1b03-4396-b63a-17445b1992f6 CLINVAR:13554 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c2cf6eef-188f-4186-a9b2-c7a8cb1d29e0 CLINVAR:13554 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da455856-89e7-4979-91e4-45fa13aeeb82 CAID:CA290950376 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b12deb03-bb86-4d4b-b376-16fc84c1760b CAID:CA290950376 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a019804-0fff-44d2-b9ee-8be199217d0e CAID:CA399801310 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c90ed03e-b93a-466c-900f-7ef2525aa3d7 CAID:CA399801310 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 703804be-728e-47d9-acbb-136d0f8b9724 CAID:CA399805557 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1cf8a2a2-7bfc-4b6c-aad5-940272edc270 CAID:CA399805557 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 685508b3-9897-4cd3-a2c9-60d616c52a19 CAID:CA8602528 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7292eac-565c-4de1-ba5f-a5f9d0b6c4ad CAID:CA8602528 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26dabff9-e523-4486-826f-1b158dfe57b1 CLINVAR:953027 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f2a7529-d9bb-4a79-b9a5-ba87a1459941 CLINVAR:953027 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19733d4f-829c-469f-ad46-63f751ffb78d CLINVAR:953051 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ae6dd2b-8835-4fb5-91ef-3f32098d4412 CLINVAR:953051 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e846acc7-b106-479d-a28e-d9de4dc6b052 CAID:CA399804619 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e1d4c6f-bfbb-4172-ae83-233b80aced7b CAID:CA399804619 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2610ff4c-400e-40f0-bda6-ff844a367297 CAID:CA8623358 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 257273c7-e8b9-44d1-84e5-cd0aec7849fa CAID:CA8623358 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 216643a4-748a-47e7-9eb5-baf5033452d9 CAID:CA400028478 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9054f23f-93a7-41e9-98a4-5d3777ebfb1b CAID:CA400028478 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe7b7d37-202c-4ad2-a3a0-13fdb7d07630 CLINVAR:953040 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ddd85a0-47d8-45e0-8478-4d11f66ec0d4 CLINVAR:953040 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9901e9c-1617-4461-8fa7-a81805e93baf CLINVAR:812736 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de1035ed-eb97-4217-b538-1b36e9d4968f CLINVAR:812736 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f6cdcde-d20f-462a-be55-ec7e2c089320 CLINVAR:953052 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e47c1f6d-61f9-4363-8808-5d2208d091a0 CLINVAR:953052 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a054801b-9525-4510-962f-ffbefc422b52 CLINVAR:953053 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 01652d6b-ddd8-42c0-afe4-7117f23949a7 CLINVAR:953053 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fe897db-bd22-43ea-a3bb-422ad5e61331 CLINVAR:953007 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a18336d6-2f7a-4574-92f7-4c85d0b5b075 CLINVAR:953007 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a79cc90-5694-40cc-9abe-a584d9f8e6db CLINVAR:952996 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bfcacfba-7f65-4b1c-b521-9c240e6525ed CLINVAR:952996 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0560e18-a347-43e1-8471-a540205c26e5 CLINVAR:2900 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eff37be9-99fd-44dc-8241-51499cdcd88f CLINVAR:2900 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7659f26f-b94e-495c-b94a-736ec81ee65a CLINVAR:569057 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b78680a1-2436-4a0f-acf4-560b0dc4bedf CLINVAR:569057 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de9cbb3e-f187-4d93-aa24-b424b8738fe0 CLINVAR:953008 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ee9ed547-1fd1-4f11-bafe-8248d425b19c CLINVAR:953008 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7decf285-f791-4ab2-b81e-3ad8c47c6907 CLINVAR:381747 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5bcc1b1d-92f2-4720-884f-11e256117148 CLINVAR:381747 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2a5c609-59c4-4ee5-a944-1d2bf73aaf90 CAID:CA399802424 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 747f42a6-ecd2-4fa8-acfb-4e068ad70839 CAID:CA399802424 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7007463e-ff7f-4c00-9c74-85213d90df56 CAID:CA913189170 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d677f8a2-c196-4281-b5ca-7c4df5667d84 CAID:CA913189170 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b21cb754-c737-46a3-a4cb-1073f13fd4fb CLINVAR:953004 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8267327-b951-466d-b949-1d2247ab9820 CLINVAR:953004 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b12379e-14f0-4073-b35e-a21f14e3c4b3 CLINVAR:953001 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 869467dc-8c85-4a62-b4d1-03d047aca2ee CLINVAR:953001 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b88c9c6f-0d4f-4fc3-bb66-faed08cf54fe CLINVAR:953005 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d3e39be9-eaf1-46d7-b036-776347aee4f8 CLINVAR:953005 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b6858bc-eeab-42db-8d8e-8f6f04bb63e2 CAID:CA8603457 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 20233df8-7a6e-41d9-9864-42afb3952716 CAID:CA8603457 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8119ba2-9692-497f-953e-679f98d5365e CLINVAR:631774 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8e7b180c-038b-4a58-af31-4701eee3c3ce CLINVAR:631774 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 523c1233-13f6-4064-8014-803b94039948 CLINVAR:953061 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 302519d0-4d15-47d1-93e8-39b186028571 CLINVAR:953061 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3063c37-328e-4c95-8c14-5030ea71744b CAID:CA8622899 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c262f367-3589-48b3-934c-e6c666d80335 CAID:CA8622899 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7f402ae-112b-48b5-bc17-4b6da4eea69f CAID:CA400033055 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 568d203f-d607-4ca1-a662-e434fc1a1b9b CAID:CA400033055 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7bf6bbe-7252-4dad-b4e0-00d70cd8fecc CLINVAR:953010 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f660eace-9ebe-4588-b2e5-c3de8b5fbea6 CLINVAR:953010 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac14f149-56af-46c3-a2a5-46aca3993c31 CLINVAR:953029 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cda96711-7e54-48d0-a27d-d9b6149c4abc CLINVAR:953029 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57e5a1b1-d367-45f5-a721-cfb9215a2539 CLINVAR:953018 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84f31d98-d9d6-4bb1-9062-eebe95f8713b CLINVAR:953018 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35601a16-66b5-4f21-8da8-f66983b3f4a3 CLINVAR:996156 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df2e5312-2615-4d67-8e29-399c4a4ca0b7 CLINVAR:996156 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb954230-f83f-45d1-b575-2791e3c76a7a CLINVAR:2895 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c7c05dbe-ce29-4ed1-8849-08c5f7114b6e CLINVAR:2895 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2c68b54-88b0-4b1d-bf20-78d630bfca7a CLINVAR:996168 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0496a63d-2517-43ce-ad15-70c01f9a605c CLINVAR:996168 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55c3e3ff-9603-4e30-8113-de8614b83643 CLINVAR:996169 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 99569f39-2800-43c7-bfbf-57b8cafcb61a CLINVAR:996169 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03fe6bcd-2cc5-42e1-a4b6-e0f9086a3ff4 CLINVAR:996170 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4e494b12-16ad-4fa2-b5ac-c1867db58877 CLINVAR:996170 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 353858d7-7f81-4a14-95cd-7d5531e377b6 CLINVAR:996171 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 48fc3aed-c235-4a2b-98ce-a42f32e195f8 CLINVAR:996171 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e15ba926-2bf8-4586-ac55-bb11acc3aa11 CLINVAR:996184 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 722a28e2-2d1d-4337-a555-813fc1c236ee CLINVAR:996184 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32204f7f-37fe-4ee5-96fa-20ee8f5089a3 CLINVAR:635 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 455cdc7d-12f0-4ad7-b8a1-ac6626aa2c08 CLINVAR:635 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6794e100-5b43-4e13-a420-ea930b5f161a CLINVAR:638 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c224e4f-9952-4c83-941d-92ddce3c70b7 CLINVAR:638 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59ab9d97-f7de-4684-9c34-d054ff504728 CLINVAR:928885 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b657ba04-49ef-4c44-b996-172f72286c64 CLINVAR:928885 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e7ac578-7575-4df0-9269-d87094b23e6e CLINVAR:552657 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e6a97aa2-735b-4dc6-a893-2253254d4f22 CLINVAR:552657 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1873e810-7a96-4607-9a0a-d5636722092c CLINVAR:551103 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b2edce0d-2efe-49f1-a2c0-633225f92ccf CLINVAR:551103 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 882fab89-2170-4ea0-900e-97c3054a45b6 CLINVAR:102602 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 53f1ed15-73ef-48b7-8f27-e8278efbbe56 CLINVAR:102602 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b99441a0-7b57-4ee4-a4fc-c3175d8bd347 CLINVAR:996175 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e885f55-3a43-4c64-8e61-191b057f5c48 CLINVAR:996175 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1bba649-0cb7-4177-8274-ef4cbb678fdc CLINVAR:627218 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 774340c8-2d5e-46b4-b572-8cfec485c693 CLINVAR:627218 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7d960ad-c768-4596-a398-0602a71366e8 CLINVAR:996178 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7675278f-b600-445c-b1a5-d12d00f17f4d CLINVAR:996178 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6cc9d27-e8d5-44e5-b2a7-2d75615e24d0 CLINVAR:996159 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c12c0b78-5bf5-46da-b9cd-146cd04571e6 CLINVAR:996159 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efc7b083-c60b-4023-8790-602142b129e9 CLINVAR:996165 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3199b8b0-16cf-4d5c-abcf-943a1e514485 CLINVAR:996165 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91ca6c6f-db0f-44a4-938a-afab1b6a71a9 CAID:CA290949843 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b00ae39-54d6-4dd9-96b6-5453aec53662 CAID:CA290949843 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0a871e2-862f-480d-8db8-57b763a6a6eb CLINVAR:2893 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e0f4bf2-002f-4713-aef8-37552790ee6c CLINVAR:2893 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9366fe2b-f934-4cbe-a4b4-ba35460decbb CLINVAR:996176 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8cd6093e-bafb-4f84-940f-dd0d4f6f0dcc CLINVAR:996176 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5cffbc6-ffe1-4511-9d02-a42fc0939695 CLINVAR:996180 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a57043a-4bb9-47ef-b45e-763dde5d3f4d CLINVAR:996180 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9686bd6-1481-47c4-9e21-f253a47258ed CLINVAR:996172 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d741816-743b-4196-81f8-33295ee28c2f CLINVAR:996172 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a64eb0c4-d255-42e6-b65e-884e6eeddc95 CLINVAR:996161 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d4ff212-0bd9-45a2-96d3-f19f5371f610 CLINVAR:996161 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18204ff4-47e9-4bba-93d9-b11f1f226e2d CLINVAR:996173 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d692f820-1178-4298-bd08-e36060664383 CLINVAR:996173 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3306243d-6497-4b0e-8d38-f955d4e020a9 CLINVAR:627131 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb38d350-1680-4d3c-b6cc-79358fc3744d CLINVAR:627131 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ea33393-a3d6-4e5e-91fb-128bf80e0241 CLINVAR:996207 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f612ae8d-f76a-421b-a7e9-3ec19095c579 CLINVAR:996207 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0992c735-fd66-4482-b114-9837089d0d39 CLINVAR:812735 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20382e8c-58de-4063-8bca-2fd8738ed8cc CLINVAR:812735 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8cbf184-8556-4252-99b1-2b957bedfca2 CLINVAR:323868 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 567a0e5c-b8e4-4954-a4b8-0064748a5036 CLINVAR:323868 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7160eaf-875a-482d-a9b0-425aac375888 CLINVAR:996177 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d18c1ff0-af81-48cc-b401-028a14e9bbb7 CLINVAR:996177 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15e143f4-65e3-43a1-b0b0-8d4b9814f394 CLINVAR:50233 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72ca9d84-c67b-4560-959b-be393868a2a8 CLINVAR:50233 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db81301e-6083-42cc-a8f1-2a3dde80329f CAID:CA399798321 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27bcf615-0d4c-43e8-a184-ed33fa0d216b CAID:CA399798321 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16af05a9-cbc7-43e0-a1cb-f7b26a9e2812 CAID:CA400032726 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60b25dbb-d1c8-4f69-88ec-6b8b7435fbd7 CAID:CA400032726 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4488eda0-337c-48ec-bf72-8e4f2ddd8d5b CLINVAR:996187 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57721e80-bd27-4712-bf63-081051f1cdc5 CLINVAR:996187 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 268b86b4-e80f-4c5e-a8a6-e82e0c5cee1a CLINVAR:953045 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 094d43a1-79c6-4c0e-967d-1c78e8e683be CLINVAR:953045 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e99f7670-9de6-458b-8516-abe6d63cc181 CLINVAR:996160 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4551b1f0-d465-491f-870b-ea68aca3b311 CLINVAR:996160 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44425f97-0b0a-48a5-8092-bfbbcb3955d3 CAID:CA8602986 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c1c8f8c-281d-461a-8bae-e53cc4360189 CAID:CA8602986 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ca9a91d-f7b5-4c6b-b53a-a7ae37b0179a CLINVAR:953034 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b2bbf4bb-23cb-4e9d-a40a-199041367233 CLINVAR:953034 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 964a1b68-295a-49d9-a02c-3031db8796b8 CLINVAR:953021 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eaa9c6b6-ea18-4723-a7da-2263cae6c916 CLINVAR:953021 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86221ef6-68f1-4b3a-aa23-bc7ddf8cd164 CAID:CA290949031 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b5e8577-aea8-4dca-bfd3-b73a4e1916ce CAID:CA290949031 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc582eb8-54e1-497e-8965-9d26c22f4ced CLINVAR:996190 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 03a061de-ac87-4aa7-a021-92f5b155d5cf CLINVAR:996190 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1be76ba5-07de-4375-ba74-b7f8a86424ac CAID:CA290955739 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6fddbb5c-fbd4-4185-bae4-c1e675ff799e CAID:CA290955739 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4e49aad-23d8-4b41-97f7-042c7d1d87d3 CAID:CA915940289 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f180f592-b9e5-4145-91b8-4c34202ee895 CAID:CA915940289 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93121f77-18d3-4a17-a802-cabc08691c2c CAID:CA290948990 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d6178d4-44cf-40fb-a923-bc3c28e3d946 CAID:CA290948990 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90921e4d-397d-496b-a793-f063d0154deb CLINVAR:996183 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22363b5a-66fe-4243-b847-2f7d6a787f23 CLINVAR:996183 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c7e35ea-272e-418e-8563-8c61f1b771da CAID:CA915940315 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5f27050-e1fb-407e-8ad6-b36522db176a CAID:CA915940315 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d21dd7be-05e4-48d4-b18f-2f1cf58b505f CLINVAR:996212 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be46ad4f-46f3-4ef2-b87e-cbf2f044ac6c CLINVAR:996212 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d53b13d1-bc06-4217-9869-1cd3619881a2 CLINVAR:996202 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e5a29b6-b134-4ce0-8074-76479e7f1e18 CLINVAR:996202 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4483bb9-baac-459d-8353-b59ca42cd493 CLINVAR:381748 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0c9af327-358d-402e-8085-177a7ee601de CLINVAR:381748 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9229eae5-1569-4a4d-865e-8bbc34266e3c CLINVAR:996174 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 07b4164c-0d1d-48b6-a48e-f0c8b0dfc79c CLINVAR:996174 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5fbf069-2187-4790-b285-bb92f86a39e5 CLINVAR:953057 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5fa2510-d44d-4b7f-b2d8-9442ec2caae8 CLINVAR:953057 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18b8905c-6da7-430e-84eb-01676448a4c5 CLINVAR:627299 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53dc773f-fb41-4057-86a2-11f84fcdf29d CLINVAR:627299 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4641ea8e-6538-4241-9328-f18aa3ab63be CAID:CA915940790 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dfb04efe-0fb7-45e8-ab8a-2babcada6204 CAID:CA915940790 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddf49b97-dd9e-4b99-9f0e-3525c647b435 CLINVAR:953030 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f08331f-7f76-49c8-ad9a-a323b4292275 CLINVAR:953030 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 900e38fb-f92d-4dde-8dae-b7642928bafb CAID:CA400032825 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ae4a414-6eee-4d76-911c-e4a1544a2920 CAID:CA400032825 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0163ca5f-a60d-4e42-b57b-4cd7044848e6 CLINVAR:627103 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4a43cc0-848f-48a2-9e6c-cebfe7dee16c CLINVAR:627103 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcd16776-3bd1-4b3e-9f55-cba7e7c47d1d CLINVAR:996158 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ad13c1a-3165-4227-870d-1d27e0931463 CLINVAR:996158 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1256cd63-1bd5-48fe-ac7d-556578dfcf68 CLINVAR:953014 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf17d0f5-62e5-490b-b8cf-22a955748b6c CLINVAR:953014 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47ad672b-79bd-48a7-a15e-85a96e04138d CLINVAR:996201 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f38f31c4-4fe5-49af-bde5-a22f0b14e485 CLINVAR:996201 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adcc34a4-e43d-4871-a855-e4fd10e7a1d3 CLINVAR:996203 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e892a7e-7126-4bdf-98dc-a9c0d1e7bcc4 CLINVAR:996203 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc303de4-b7ae-49e9-83e8-053ed355c40c CLINVAR:996208 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 345eca34-d0a7-4c76-9fe2-af30983a39f2 CLINVAR:996208 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba56df3d-8502-4e7a-9960-de834b2daadf CAID:CA8622852 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0008b78-f4ec-4fbd-8722-023030058785 CAID:CA8622852 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b35c0b0e-4dc9-40d8-8f6a-60aab1346734 CAID:CA400020703 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36619283-1ec5-4a79-9b90-40854f199f29 CAID:CA400020703 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b28d0a7d-5b1b-4ed7-8d2b-4545a97978c9 CAID:CA626224450 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd641850-06e8-4f09-bc92-ac2398d967c6 CAID:CA626224450 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 026cd3a0-c516-4c74-aef5-c30a5ed160a2 CAID:CA400025022 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 94779c52-374f-48f9-9b3d-e66f44c08987 CAID:CA400025022 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62a2e037-e20e-4df7-adf2-9b0a33a8aadd CAID:CA291224887 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe1d82ac-1d69-4f62-bc53-9b10af51e172 CAID:CA291224887 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49ae04f8-dfa2-49dd-a295-401b4494e21f CLINVAR:626993 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ef19d07-812a-4174-a75a-f8a788599d03 CLINVAR:626993 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4930bd1-1a42-419c-92d8-443a266bb186 CLINVAR:691627 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0ebcc258-d392-43b4-9a0a-2c72da486f25 CLINVAR:691627 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 285a1721-ff97-418d-b62b-362bcbef739d CLINVAR:996181 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dcd1f8c8-a53d-4fe8-bb48-9bc9735a6a89 CLINVAR:996181 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 127e85f7-d60a-4cfd-89e8-0c4b0aee8cf9 CLINVAR:50232 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b349042-5593-4c86-9348-2b1d1187dde6 CLINVAR:50232 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0c952e2-b46e-4035-a15e-6bfd4bd4566f CLINVAR:953039 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 778bdd6b-b582-47da-b707-d4d08bb5d35e CLINVAR:953039 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa9b7f26-8f18-4933-885a-0dfbba260423 CLINVAR:626927 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a18af833-e8d7-4bc1-8167-655822f4b257 CLINVAR:626927 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e80d42f-543d-4c01-8815-c3b4369322c8 CLINVAR:953058 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 859ccefa-2e7c-4281-802b-772a05c2acbf CLINVAR:953058 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adfb0eae-55e7-4674-91f6-d7c77bb80820 CLINVAR:953035 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 55b40e99-616c-4532-8641-02bf7d4d2045 CLINVAR:953035 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d3eccdd-761b-48b9-957c-0e10086321fe CLINVAR:996166 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 439dc667-2d2f-4bd7-b1bc-9e45e9a057bd CLINVAR:996166 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c0a31d3-6292-4515-b339-789436bf5d1f CLINVAR:953036 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f0a058ec-99c0-477f-b9d5-4310e101781d CLINVAR:953036 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 038b7833-7a99-402b-84d7-181decb257c2 CLINVAR:996189 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29dfd04c-41f2-4f31-a04e-0008a2899122 CLINVAR:996189 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c633ee44-08b8-47eb-b9cb-2f5bd8cb6d6e CLINVAR:996182 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ab4bdcd-9013-4beb-8409-ba66c5ed164d CLINVAR:996182 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e96845c-b475-4d12-9f2f-95be484fa23e CLINVAR:996200 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c7a0ea9b-4483-420e-bfe4-5ce69ab7f5ba CLINVAR:996200 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc0a9308-2eb2-46f7-a753-f6012822f588 CAID:CA400023596 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98229a22-f504-4a73-89e8-980fa68d75c3 CAID:CA400023596 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 109de71c-a008-4c7b-be30-f589c6e7525d CLINVAR:996205 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54fb9431-dd8f-4130-ad21-74704794bd33 CLINVAR:996205 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac450608-b895-4660-8ade-acdd6c5fbb14 CLINVAR:953012 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 33478120-632d-4413-a6be-5ba05ac63575 CLINVAR:953012 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9712a5f5-3232-4122-b19a-0ce498e7e3b6 CAID:CA290954352 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f5db45c-758f-4718-91c2-e9fd98259026 CAID:CA290954352 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff4369a8-e694-4e93-888f-cd07c3ad3638 CLINVAR:953038 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87e78e2b-c196-4c69-bd44-af7c96a7fc62 CLINVAR:953038 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b0be1d5-d35d-492b-83b7-5830d509bb1b CAID:CA399805155 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dcdda88b-a977-457e-a29b-3f0c7794eb72 CAID:CA399805155 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 182c079b-aca3-4e6f-98d3-fe3fad25a0db CLINVAR:73556 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32e91e5c-1bb4-464d-9483-bf902ccd5133 CLINVAR:73556 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9300d1e-7882-46b4-b088-551edc9cf17b CLINVAR:203872 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8a726f3e-5aea-43e9-83f0-2d5574224311 CLINVAR:203872 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c393ec5-d88b-4b55-90ed-afd033e96184 CLINVAR:883981 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de6df084-eeae-42ab-a98d-31888ca3430f CLINVAR:883981 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43e4b81f-0404-44ed-a358-21cd3141dcb8 CLINVAR:620 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c44fc3d-766c-4a2d-984f-6d6ab0de74bd CLINVAR:620 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4affe856-457c-4a94-9d0f-43532783d906 CLINVAR:102914 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6c5dc1fa-4ba0-46fd-bc00-1b9e809f4dfd CLINVAR:102914 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6656c263-dbad-4ac2-9a53-420a8c007b65 CLINVAR:102517 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 695efce7-7051-473b-b897-450bfac8a3dd CLINVAR:102517 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 388eb0c8-edcb-4cb3-8c15-055c71165b37 CLINVAR:102794 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d41b66c1-0c9b-4eaa-9b89-9a82b2d03678 CLINVAR:102794 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34c9b16d-1df0-4100-89cc-bc3b558363a7 CAID:CA1139533026 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab7351b6-a430-446f-a42a-e366f0fc0510 CAID:CA1139533026 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e5bfe38-96d1-47b5-b01a-5e1304fecf8d CLINVAR:102508 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 456afe6b-23b7-438f-94b3-da21fd06606b CLINVAR:102508 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8712786-9074-4fc3-87ac-af2e6210b4c2 CAID:CA645584081 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93452ac5-ffca-4d6d-b460-c1e5d514261b CAID:CA645584081 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdc7022c-ff38-47ad-9e06-d6858a66b0a5 CLINVAR:558091 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 41a71f45-7c7e-49e3-91d9-6fdc334da6af CLINVAR:558091 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 018c56e9-244e-4d9b-9f2a-0f5e0caef36d CAID:CA16020897 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ba0c7ef-0d30-437e-adee-ee1b05e36b82 CAID:CA16020897 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d22b9edf-99d9-401c-afee-973c08061f3d CAID:CA16020853 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4b59846-f3de-4601-8567-eb70a49c04ac CAID:CA16020853 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c78f8d35-f859-454d-b33c-da99fd01dfe0 CLINVAR:102501 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4b559a3d-5fa3-4753-891d-7519293142a2 CLINVAR:102501 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54838c13-9b7d-49ee-ac60-97ddde98b8f6 CLINVAR:590 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b286cd3d-e84d-4793-bdbb-932f5ce9ece3 CLINVAR:590 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 940544c2-07e1-4bdb-91d7-d9a15155ddd0 CLINVAR:446524 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2fa0f96f-eeeb-4c38-9952-4759332c6465 CLINVAR:446524 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56e4a14f-9c7e-4392-82d0-2e4818d96d9a CLINVAR:120290 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bbc6e051-ac98-4c0d-8ac2-eeb8b603c2b0 CLINVAR:120290 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ddc7591-d765-42ba-92e9-1979b3d3ca3a CLINVAR:102883 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32a490af-6bba-4bed-8bd1-5d3633320317 CLINVAR:102883 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2da53529-f69f-4ba9-8361-5ce645405fbb CLINVAR:12969 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c80c3dde-7827-480f-84a2-e9800e65357f CLINVAR:12969 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a45cb3eb-2c0b-45ef-a69b-fc35d1261e59 CLINVAR:12993 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d42b8a05-3cd1-43bf-bcfd-02cb949f32f0 CLINVAR:12993 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cc35ec3-1f12-44ea-9f68-cd37ebb53db3 CLINVAR:133101 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f678dfd-1938-41ca-bd90-7d345155c4d3 CLINVAR:133101 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51341e57-bf54-47d1-8ebc-474ba3ac9109 CLINVAR:133108 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 992b37fe-90ae-4669-872d-ddaa5eeaf4df CLINVAR:133108 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55cad04b-f48c-4bed-98d2-3bf8f0c7d104 CLINVAR:133193 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8f327f8-de23-4c4a-888c-75d96b17e235 CLINVAR:133193 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eadb0fc1-30b4-451e-b6d0-464adf0eaac8 CLINVAR:133207 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 33158abc-6ed2-4359-9c6f-5f26ed48ae15 CLINVAR:133207 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d0d94bc-7c78-4b13-873a-e28f16458c63 CLINVAR:161371 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04acf56d-7826-4e1c-99a0-c3c428d5fb3e CLINVAR:161371 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11e447e3-f5a1-4d6f-b70d-5f9d9bf74f8c CLINVAR:1214007 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f157deea-5d81-42b8-84f0-2c33ec31b1db CLINVAR:1214007 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 987a7b0e-bf32-470f-8e32-0504fededb81 CLINVAR:133117 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ffdac5c-6de7-4133-b4a1-fc3e673776b4 CLINVAR:133117 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9986ad68-f079-4e99-a0c5-c2975f0966d0 CLINVAR:133094 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 409a0117-db2e-4142-be99-9558131b97cd CLINVAR:133094 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49bd3f17-3a69-4ae5-8a31-12b6772ff4f5 CLINVAR:133204 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84f754d5-a77b-4266-90ae-7b762f78c9a5 CLINVAR:133204 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 344aa463-eb09-452f-8394-aee628c76b70 CLINVAR:573252 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c14c5740-865c-436b-a816-36d98a4d0ed5 CLINVAR:573252 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f00d8fa2-1738-4bea-9b6f-4d86ac20d093 CLINVAR:635269 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e5b0d22-1f8f-4bf5-a3be-c188fe128114 CLINVAR:635269 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47c4c382-66b1-4968-b11f-9cac647d5804 CLINVAR:133242 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6afccf0-0aef-4b62-a8e6-d296b1d46087 CLINVAR:133242 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e48cb27a-d303-4e67-9151-87fbb044bba8 CLINVAR:65927 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 652f5b05-f4c1-4b9f-b5c2-a7f36293318a CLINVAR:65927 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8deb04d3-2529-4edd-87eb-40d7e0cc0e98 CLINVAR:133030 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09377688-bdea-41a4-84ed-e33bf77d6d9d CLINVAR:133030 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa054a2e-d5c6-450c-bd75-9fe03d68101f CLINVAR:161374 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb258984-6829-4af0-9f96-3eeeb579d99d CLINVAR:161374 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2b4fd81-ddc2-408e-988c-d34b18742a04 CLINVAR:133099 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14d60c4e-fb51-430f-974d-1055233d0215 CLINVAR:133099 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f588b730-cd29-4f34-a3b5-b25002b97f33 CLINVAR:133182 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7348a820-5953-461f-bbc2-4c9e79d6439b CLINVAR:133182 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b55c308-53e3-4c00-ace4-5c9a84d0f170 CLINVAR:133102 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23d362c0-c1ab-4348-82d3-c8100d6e2fa9 CLINVAR:133102 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8918b1d1-1ecb-4b98-95b0-b72c098ebf08 CLINVAR:133245 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e5c978e2-dcd0-4201-bcd4-4d4af38492b9 CLINVAR:133245 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7fc8a66-5187-44b2-a953-67085333d601 CLINVAR:12964 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a92c451c-ed49-4190-8c54-5f3d4481654a CLINVAR:12964 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c5f0fc4-d8d3-4057-8194-1f2506c063c0 CLINVAR:133147 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77929186-ffae-48e3-b082-820f9c2ffc09 CLINVAR:133147 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37f90dfe-1a5a-4e6c-8726-366a43ac3135 CLINVAR:329061 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17f17ff6-a811-456c-87a3-6cae4e976d8f CLINVAR:329061 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42718d2f-95f9-4ee6-bcc2-257987c2e5e0 CLINVAR:133133 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94f9378f-07b6-47cb-8d2e-614b0e225e4d CLINVAR:133133 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a1f4c9d-ddef-4128-abc4-559713818ac6 CLINVAR:133004 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e52fda43-caa2-4290-bf0f-14672446adc0 CLINVAR:133004 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f9cc6b1-03f6-4ee6-a406-ec2eb645465f CLINVAR:133132 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff56b06f-514d-403c-a433-b2c777982645 CLINVAR:133132 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec231f9e-e680-4874-8d38-4e49aeb4c31d CLINVAR:133171 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f8d0115-a115-4793-87dd-64123db151bb CLINVAR:133171 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f587155b-4913-45fa-819c-d235f94d7d65 CLINVAR:65984 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1bc5e3c-958d-4a41-8b16-b5ddfb98aa1f CLINVAR:65984 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ef034ad-74d0-491d-9fba-e815cd09b804 CLINVAR:133136 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca7bba78-d884-4582-bbfa-f2d62ffabb50 CLINVAR:133136 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7539d686-6130-4eb0-a845-673d22a6e87a CLINVAR:65953 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7ce7954-4cf8-4dd2-b3ce-09033d369dd1 CLINVAR:65953 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b7f9020-fae5-4c1d-a77d-841ccfadfb0e CLINVAR:1214004 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afab6705-6273-4baa-8685-acd1387cf452 CLINVAR:1214004 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01e00e4d-1c18-412f-a217-d7073fca6f84 CLINVAR:12973 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36a10813-f185-4879-976c-78fbbea4ac3c CLINVAR:12973 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 795b7622-2e8b-4967-9287-d103f1fddea0 CLINVAR:1214001 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d717f59-67d3-43f8-9dcc-63c261087e7c CLINVAR:1214001 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ab5787e-383c-4ec8-a8e8-74123fc2efe3 CLINVAR:133003 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a041fa9c-8021-4597-a39c-ac0621f5a078 CLINVAR:133003 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8858bb37-13c3-48d6-a25b-94e47e1b0052 CLINVAR:590508 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d670750c-f085-4f17-b898-adf1a365e00c CLINVAR:590508 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3edeab4c-f390-42b5-8b37-cc6e7fd8d14f CLINVAR:133139 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2733b38a-05c0-40c5-8cca-c2900682b873 CLINVAR:133139 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32c081ae-f557-4ad5-a588-b82d63cb1b4e CLINVAR:1214000 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 801ff810-934e-4efb-a8db-e208fecf12c9 CLINVAR:1214000 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 751ec107-8e57-4ae0-945e-353e73f7b90e CLINVAR:1214008 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ea4c8c1-6f55-4089-b05f-42de1ad58e57 CLINVAR:1214008 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a4ba6f6-5fb5-4949-9eaa-723282eb53df CLINVAR:590585 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2deff078-e404-49fe-8f71-47796755d8d6 CLINVAR:590585 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83688b39-dfe9-4b07-b6ce-aec143a5dd90 CLINVAR:133045 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 82657d74-0588-4182-9705-db45899c9726 CLINVAR:133045 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb19b46f-da73-46ae-a417-49965bd5b9ef CLINVAR:133122 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c3ed63b-40aa-4cfd-a634-26bcd34b5d9d CLINVAR:133122 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7195dc06-00b7-448b-8d80-8432d0326be8 CLINVAR:133076 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6073d9a2-3c08-4ef9-8d11-a357e44a0b07 CLINVAR:133076 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83ff691e-4a11-4a67-9841-deeabf5a4e48 CLINVAR:132995 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 67f64041-8552-4436-bcc5-d17048e1ea23 CLINVAR:132995 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a59e867-64d6-4b97-a719-5c6a264029f6 CLINVAR:133141 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be6ad257-4a31-4633-9614-8251caa65bdf CLINVAR:133141 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9948da5b-4aa0-4a52-8d5e-74b0f662f702 CLINVAR:448182 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e79b93ba-1543-4141-b1fd-1b877a193f4e CLINVAR:448182 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68a4497b-20a9-481d-8dbe-ba89bcea248f CLINVAR:478267 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3f3a2bb-97d8-4bb0-9b39-3ed324ca0179 CLINVAR:478267 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c3c8ab7-a3bc-4237-9489-b2b6942f1f45 CLINVAR:133129 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d52511e-8122-4e13-95f1-321161638353 CLINVAR:133129 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1f6aa26-3ed6-40ec-b2b2-27ed024c9d6d CLINVAR:133103 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a4f007c-a0a3-4f71-986b-bfd3e954661e CLINVAR:133103 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6652c58-07e8-4dba-9630-36f7e75729ae CLINVAR:132992 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e43b12af-950c-48ec-85f5-7ce0676d37c7 CLINVAR:132992 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d76e527-19c8-4579-a6a3-dd2f22f92427 CLINVAR:1214005 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen edd3b6f9-8e24-4e40-b49c-ff447f2f7f2b CLINVAR:1214005 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42dcd392-ac2b-475b-8591-f645bd576624 CLINVAR:133137 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 95abe83a-d0c7-4eba-8489-28afadbea8b2 CLINVAR:133137 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d590e65e-379d-4d9d-b946-4172cecabc52 CLINVAR:65932 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 48369466-a58b-4690-83a9-310b336fcc10 CLINVAR:65932 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8bd6b0d-3b4d-439a-8325-106cac89c2a8 CLINVAR:478260 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78331dfb-d9f1-4525-b21b-99c389b2ee56 CLINVAR:478260 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 718b0792-1c43-4796-b72e-f8c790059038 CLINVAR:133170 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9034a311-9412-4931-bfec-f05fa3ffa0a7 CLINVAR:133170 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c204fd1-2382-47eb-af07-a85e2377489b CLINVAR:65993 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fceac64a-2bfb-4d43-a3f6-d856f367a8b9 CLINVAR:65993 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b8aac26-9113-4113-8d30-ea6c63e9a7fc CLINVAR:159840 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d110cf8c-0eb4-4cb5-b2a9-2b3a6cde19d1 CLINVAR:159840 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 673bec59-ef32-4288-8342-f63427429c59 CLINVAR:133140 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 452a38bd-25f8-47e2-b246-f84f02fb954d CLINVAR:133140 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a70cc7ee-6810-464d-851a-3bfc3b84e2eb CLINVAR:291315 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28859094-dff5-46fb-996f-077ba0ce9dba CLINVAR:291315 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1a99ceb-db2a-4c47-a0b2-0b114fd86589 CLINVAR:1214003 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ed9b1c9-ada0-4a16-b9ed-d32568197457 CLINVAR:1214003 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3e72ce9-097d-4d4f-a77d-6b60ff29050c CLINVAR:133046 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a22ad00e-cc44-4be6-9b1d-59b9ba1a97b1 CLINVAR:133046 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96b0abc7-2658-4851-8796-6a3da4f2c4d8 CLINVAR:1214002 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 158587fa-133e-45f9-876a-40345b8df595 CLINVAR:1214002 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e266df89-67e5-4cf7-a262-653af6c73075 CLINVAR:803553 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd0821f2-5bcb-4ce1-91fe-92dfd036d674 CLINVAR:803553 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28edb318-b5d8-4e52-834c-7df6d54ead5e CLINVAR:212100 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b24cdad5-baa5-4ca4-8d55-2c957b159f89 CLINVAR:212100 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f912c142-14f1-4c61-878f-b461adaec757 CLINVAR:55831 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7678692-7c8a-4169-ad0f-60c330742e9a CLINVAR:55831 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb6e6dad-a323-4bb9-b341-0210783c0e0f CLINVAR:133096 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4ac9bdb-64d5-4cd6-95fa-e397f22a168d CLINVAR:133096 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9dec395-027e-43c1-a0fd-a06d42c9cb31 CLINVAR:102859 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56206f2a-cec9-4b84-8bc9-d24700559063 CLINVAR:102859 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b61126d6-fe43-487d-af29-abf8ace05378 CLINVAR:102727 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc840a5d-7e0f-4dd5-ac37-08d2f7d7f76d CLINVAR:102727 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7afdf806-eaf8-4a91-b81d-0db2722e1fa3 CLINVAR:664621 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4118191f-bd32-4e42-b0b5-60c3bb1e4097 CLINVAR:664621 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e19cd496-fa0d-46c1-aa4f-e713954db682 CLINVAR:102738 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c1582c58-2cca-4118-bbf4-baa5f7285a38 CLINVAR:102738 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42e22b04-3347-4b3e-bf21-276f6715e467 CLINVAR:102878 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2fa062a4-bdc6-4638-81c6-272e9e758003 CLINVAR:102878 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef01886c-f364-4ff1-8e4c-7e23be0379ac CLINVAR:102890 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c2b572a-3deb-487d-ab70-7aace6dc57fd CLINVAR:102890 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87e78a47-96a1-4451-b8e1-8d886a420fb5 CLINVAR:102464 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 98e9d811-d3de-4aba-92c3-e3b91f9cc4ca CLINVAR:102464 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa39f19f-7149-404e-bf54-839a52b2ef6e CLINVAR:102917 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b772c73-13b4-4034-b069-d148dcd5101d CLINVAR:102917 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6ceeef1-a32f-42e3-9e4f-14b6c52cbb5c CLINVAR:282842 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9951f4a0-07d6-4bd5-a322-250ffc830be2 CLINVAR:282842 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1673436c-0a34-4742-b901-e07139ada99e CLINVAR:93540 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen add82649-3485-41de-b90f-b9e1877ae27a CLINVAR:93540 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 599ccafe-3fc2-4b6a-8c27-5e06721d5b66 CAID:CA6748738 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64e7f06c-fdb6-444a-bd69-1593dfbfc1d0 CAID:CA6748738 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 611402ab-ec0e-4eeb-80d6-d6fe26cd122a CLINVAR:2896 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ca8b7fb-3ac1-4071-9ee2-1a2383ae49d3 CLINVAR:2896 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e13e8372-396e-41b0-bc09-dc9195804456 CLINVAR:952997 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8fe41f2-4903-4da1-89d3-d6b3abc795da CLINVAR:952997 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b57cbebc-c9a7-46d8-bc66-21b06ac75a9f CLINVAR:952995 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8378b9f5-e4ca-4d39-978a-0aae00c4e37e CLINVAR:952995 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76d0d837-bbc5-4e0e-b0af-fb4758fd1a56 CLINVAR:132709 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85533d6e-b20a-4ae0-93b9-72d6a20af191 CLINVAR:132709 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e972326-ba95-480e-b6b9-f03d74e60c7f CLINVAR:234571 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d47a5f95-be5c-4e7c-a9df-f411cbf775ab CLINVAR:234571 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19c11c7c-3559-45a9-87ee-be30553e2efa CLINVAR:532474 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f0a268f-2957-4c44-8e37-61b02191905a CLINVAR:532474 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e7ee126-86d3-48ca-a834-c8683688ac7a CLINVAR:532457 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dfc23c41-44ff-4ea2-ae87-568e314f507e CLINVAR:532457 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c6e19f9-4316-4ab3-b1d4-5c8ca2c62ee1 CLINVAR:486826 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64a297c2-cad3-4581-8005-dd2417b2db24 CLINVAR:486826 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c0061b7-3a74-4358-8384-5de44cc6ffec CLINVAR:463723 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38d5501d-e628-401f-9ca0-85662153e353 CLINVAR:463723 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 534cc124-2963-41af-b7fb-2db4f7fa59af CLINVAR:481704 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f277d1b1-36ee-4427-bdbb-5eb70781d014 CLINVAR:481704 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6b1053e-1a3d-464b-94d6-362c29a0e4fc CLINVAR:532459 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 702942a4-8a04-419c-9027-0503cb16953d CLINVAR:532459 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04121b99-f14d-44ac-bd3c-8f2651f06e96 CLINVAR:233417 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 815385ee-3b1d-4dc9-a219-0d8a8b0b3543 CLINVAR:233417 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc73292c-22fa-4593-87bd-9e928986fdad CLINVAR:127915 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6756440-e2de-4fc2-a05a-5b44b324fa01 CLINVAR:127915 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6b0f068-5ec2-4e0a-af83-b9c54a9d59a6 CLINVAR:406622 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dcf53d0e-24aa-4181-b82b-21fad79e1e42 CLINVAR:406622 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57b9f26e-2e16-42c7-91e2-bde64df5b3cc CLINVAR:651982 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eaf8ded4-978e-4e84-85ef-10ad9a73b0dc CLINVAR:651982 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65708ce9-29f2-4d34-832e-26e7c557e78e CLINVAR:428629 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1f36f28-cb51-4f20-b17b-28f98576b384 CLINVAR:428629 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86eb47b2-6160-4618-b650-5dcecf727ef1 CLINVAR:371806 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b728581-a0f1-4ce5-b686-b911e386d509 CLINVAR:371806 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8737a60b-3bdc-4c11-982d-a98c8050074f CLINVAR:479514 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec2f20f2-a51e-425a-a8b4-53221d3873b6 CLINVAR:479514 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f7eda35-a53b-4bb9-967d-0325731a01fd CLINVAR:421639 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8dcb9c37-0999-4b6a-9ad3-03f21b68d12d CLINVAR:421639 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f4f7c2b-b44f-409c-ad8f-99138939fc21 CLINVAR:491520 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3962e3e-dd0f-44fa-934e-27ed06d585ef CLINVAR:491520 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfd15d1f-bec0-4e15-aede-4d505ae22be3 CLINVAR:481028 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 106714fe-64c7-47db-9f7e-8b00fcbeb61e CLINVAR:481028 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b865184-e628-4c3f-9135-0ef13674d254 CLINVAR:224529 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f58719ca-954e-451a-aa72-319cdf6b56e4 CLINVAR:224529 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2db36f3d-c6c2-41dc-8228-777f3ff697fb CLINVAR:573147 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6afa699a-bfa4-49d8-85d7-3ed1116d22ce CLINVAR:573147 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 299b1fcb-860b-4eb2-8212-db33be7c6d69 CLINVAR:428634 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15faa311-e854-43e8-8300-e8ec1a7b8194 CLINVAR:428634 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f1ccde7-423d-4473-8fcf-d8bd40478000 CLINVAR:463736 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b9b7ab0-cf98-4ceb-b384-dbc77f3af1b5 CLINVAR:463736 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f4389a3-65ba-402b-a355-64607fe9910e CLINVAR:918853 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf349d45-90dc-4d3a-8a7e-f9dc6ea12575 CLINVAR:918853 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adb7bee4-6423-4eac-a9ec-ae7cf0b8e014 CLINVAR:234636 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c33bf01-0754-4ff8-85d0-6d212363159a CLINVAR:234636 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6ab23d6-bcde-4e5f-ae9a-8d9177fe94f2 CLINVAR:483276 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb0ccd9c-0fdf-48f2-87d7-6d2297c6b207 CLINVAR:483276 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dc5559c-0219-42fb-94db-26076b278210 CLINVAR:207545 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6dba997a-8ebb-4a77-ac90-96eb2fe6bc18 CLINVAR:207545 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9322e29-2a3e-4646-abdb-edf425bcd758 CLINVAR:95378 biolink:causes MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e5aa7a1-4a22-4959-ac75-20bb946a47e3 CLINVAR:95378 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a869c00-8065-4430-927b-d318d6143e45 CLINVAR:167702 biolink:causes MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a933f7c4-21a0-4735-8791-9b476deb4bd1 CLINVAR:167702 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad8b60c0-5a55-410b-b089-a4c8092d263b CLINVAR:95202 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93758c89-117d-48a7-99c3-d735d1ca5624 CLINVAR:95202 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8029b0bb-712e-4d86-aeae-569d490f1c54 CLINVAR:143406 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4bdc3cd-184c-4171-8487-3ba245ec2009 CLINVAR:143406 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de1151e3-db5d-4cec-84cc-98f1378039a6 CLINVAR:158602 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 35abd51d-12e6-4fe8-a2e2-e0cc1bf10f06 CLINVAR:158602 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efe5b5e7-9dc7-4830-b998-e25a9fb1b406 CLINVAR:383439 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7e2aa38-823e-421d-b330-41f8f70108c0 CLINVAR:383439 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 228a9767-5ef2-4c86-8501-1d4810a7a351 CLINVAR:189612 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ea9f6a7d-1e46-43c8-a203-14378e27711d CLINVAR:189612 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7fb4c83-ea92-46ee-9591-8014a9392054 CLINVAR:156616 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f79beb1-50ac-4692-a960-01083cc78f4e CLINVAR:156616 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0a4e089-327a-4f11-ad33-e8624e98075c CLINVAR:205485 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8691afd-7673-4ff8-8759-89ae49d89743 CLINVAR:205485 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8faf763-5b68-4295-9a4c-0a622aba09c9 CLINVAR:158179 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4a9e53d-747b-4dcb-9be7-1c640e1f4556 CLINVAR:158179 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9019fac-bcdc-46a5-b612-8df1a997ccca CLINVAR:7967 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb218046-f344-4b8a-ba9c-1b2769b2b816 CLINVAR:7967 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84845d1c-86b3-43bd-93d0-d0ab6a70e707 CLINVAR:546267 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 832587ae-4563-4493-a6ee-7c472921864a CLINVAR:546267 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 194e0c76-62b5-49fd-9cdc-a1d567393482 CLINVAR:214935 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 737f9230-6559-4d3c-8020-67f330880f54 CLINVAR:214935 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c88878b-7e21-438a-a253-710847369433 CLINVAR:10880 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 986ecdfe-a910-4308-8a4f-80a5c0811c7f CLINVAR:10880 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 300859af-03dd-4d9c-b7d4-83dd208ffbd3 CLINVAR:214941 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc10899a-41a3-45d1-9792-b08db7cc349a CLINVAR:214941 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19c5c5e1-1165-43f3-bcd6-91378725a9fc CLINVAR:655703 biolink:genetically_associated_with MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 90fa1c22-e86b-4c82-ac6a-2b07d31dc3ca CLINVAR:655703 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6360c7d-8b14-4b88-b381-b3edd18d3be7 CLINVAR:391039 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dba47501-e8b6-4b44-9cba-81f0a919f634 CLINVAR:391039 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eca7c6c0-18d1-4f8b-b7db-606effe04fb9 CLINVAR:2317 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b8dc625-22db-47a9-a084-4292f8e22b76 CLINVAR:2317 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0d466f0-2661-4428-b055-07955abd1ea2 CLINVAR:129997 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 97989429-d11f-4348-b576-ed4e11fd7d85 CLINVAR:129997 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0611903-795a-406c-bb44-963a33d55d15 CLINVAR:138764 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3f28eda-e87d-4db0-a24a-f9853ecbef6b CLINVAR:138764 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 552b3c38-409d-40c0-aa04-29d1a220da58 CLINVAR:597808 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9dd033b-71dd-482a-b688-49232af6d107 CLINVAR:597808 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f93d603d-b109-459f-89a8-0c4d04dc8e87 CLINVAR:21315 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8b2ebcc5-ad8a-48dc-9084-8158ad36d287 CLINVAR:21315 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1744d55-6954-4ae1-b36c-0edf29d3e11a CLINVAR:285869 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 41905973-bda3-471a-b706-2fa3d962798f CLINVAR:285869 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37c2a1f6-a4ef-4815-bdf2-9418e664e8f0 CLINVAR:378418 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76e00288-3a26-42ff-8a90-6ec68a915c15 CLINVAR:378418 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6be291cb-8fce-4da9-86ef-beacd767ecbe CLINVAR:885824 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c2bd5c1-45b9-4577-b5a6-2e919cdcb2bd CLINVAR:885824 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49c4b6ac-570d-46fe-a95f-f0719546a6dc CLINVAR:886829 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63fb6a34-5ab6-4075-9154-b52f065673bd CLINVAR:886829 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa5a86ff-ba13-4079-a2fc-b4cce685f499 CLINVAR:426681 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 266bbf54-54a3-46f5-adbb-81f503ee49e5 CLINVAR:426681 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb7ca556-2dbe-410a-b27f-d0f6b45c627f CLINVAR:619340 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0aec847a-aab2-4518-8817-f10080e1e253 CLINVAR:619340 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 875f05e9-0fe1-4eb7-bce2-55e914b72555 CLINVAR:317304 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2675b9cb-30c1-491c-8f93-0241bcc8c508 CLINVAR:317304 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38487f8a-fd2a-4aa3-b84e-6aecd2a8d06f CLINVAR:129995 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdd66db1-a59a-404c-85e8-26bfa1e29746 CLINVAR:129995 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b72a2299-444b-47b1-96f1-28669fc4f520 CLINVAR:206553 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33459d52-a514-4a5f-ab73-c2e497727dd2 CLINVAR:206553 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43f90e01-e247-4202-8d28-1d615d4f5c0d CLINVAR:504504 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4aa83f53-a2d6-4304-aa02-db818e63d96f CLINVAR:504504 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f618bc7-d7e4-4f67-8c78-13fc274c5cc7 CLINVAR:620293 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9d5c457-0546-40d4-a504-235ecfc5ab7a CLINVAR:620293 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5af72bb0-a469-49d3-9612-aef7aadbf7e9 CLINVAR:143822 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49f1bbf8-2687-4300-bdb3-4508411a3201 CLINVAR:143822 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e44a149d-a7a8-493a-81bd-bc431fbf777f CLINVAR:195397 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a14b3129-2ec5-478f-8398-f301a5424d10 CLINVAR:195397 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4acd24e-2bce-4ca9-828b-7e7b896a7e60 CLINVAR:418572 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01ead149-daf5-4aee-9d5b-07326d4a2257 CLINVAR:418572 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84ac8753-7ca1-4eef-9729-837ddb887ca5 CLINVAR:94113 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7d9f3df-98b1-4c3e-95c5-74e9339469ee CLINVAR:94113 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2111164d-21b3-4366-93e6-ba19353e0c18 CLINVAR:102891 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 770f4561-d98a-47c7-bd3a-94b2ef1f4dc6 CLINVAR:102891 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ead84b38-9e2a-4218-b62a-5d1f9eda303d CAID:CA16020891 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 480c0ec2-1fd6-4a0f-925e-2c4b8598e75f CAID:CA16020891 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1de8f8c3-910f-4885-92bf-055017fdb93b CLINVAR:102466 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 37b75ae3-7c3a-4063-abc8-69a406995a6b CLINVAR:102466 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b42f828-8f3e-4cb0-9000-09eb64a2949e CLINVAR:102467 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37a10e05-73e9-4ae6-ae5a-b4075220d7cb CLINVAR:102467 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf27e9f4-00d8-474b-87ac-8a8a484ab263 CLINVAR:102469 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 658f40e4-ede4-4ea3-8537-bdc768db9d30 CLINVAR:102469 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13a942e4-9e99-4cbb-b2d3-4324fc2e5b75 CLINVAR:102471 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 67b55ca6-87b4-476d-841b-4748adfab18e CLINVAR:102471 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 083cee83-f90e-4c55-85b6-79309e2bf420 CLINVAR:102472 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5806634-3522-495a-a10e-a3396b8998b2 CLINVAR:102472 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee15be2f-bed2-4a78-b955-657236e1a9c8 CLINVAR:102512 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b96ca328-ef33-4fd2-b507-6c0303f01ec8 CLINVAR:102512 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4257f08-06b4-44e0-b830-e9a49363d62a CLINVAR:102527 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca58e7ed-33a1-4479-9467-9a16de534bba CLINVAR:102527 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7fa9a78-4dd4-4793-ad2b-e481ed20b52a CLINVAR:102665 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b757a72-6a10-4fde-adb0-ed7bb6a8b57c CLINVAR:102665 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6184103e-95f5-47be-afd3-430c60e7b015 CLINVAR:690393 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f4978268-f9a2-4cab-85c2-1770e4613ce9 CLINVAR:690393 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c3297cc-575a-4535-b51f-5070d31458e9 CLINVAR:434661 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b00efef-422e-4a50-ae90-e28f8d092c86 CLINVAR:434661 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e360066-8ab8-4993-8e2f-432df97566b1 CLINVAR:434662 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9443ddeb-b5c3-493d-987d-11d3e199daac CLINVAR:434662 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9351dc0b-9700-4350-b153-f45d4f3ab6c0 CLINVAR:133342 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd6f7e31-9d5d-4853-8d96-67973e7863d3 CLINVAR:133342 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1e1a947-aa5d-4dfa-a6e8-1b66aa833cba CLINVAR:143578 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6334b291-ee8f-4b87-94b4-5ecf2d08700e CLINVAR:143578 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a860ad38-a8c5-4736-880c-661a93a49c50 CLINVAR:421239 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39f56983-c49f-429b-a97f-aba63bbbe750 CLINVAR:421239 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8efb8470-cf91-4942-a124-689272f3d030 CLINVAR:420601 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 884e7442-2d24-4e17-9a2d-6c318bd7cfe7 CLINVAR:420601 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18ce1e19-60d9-44d4-8f29-0ce13a1e1d07 CLINVAR:524012 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ad6e2e1-804f-4923-8e1d-ba9358363dee CLINVAR:524012 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f0d3f09-be32-4d8b-8ec5-5ed12210a000 CLINVAR:207239 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e73efd3-31e3-4bb6-9183-951cfd9789d2 CLINVAR:207239 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93569d77-9625-41a2-b07d-17dde0cec55e CAID:CA913189044 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce17db02-b0d1-4fac-ab71-7e55dd203cc1 CAID:CA913189044 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66aaa946-9812-4654-b977-fe40ef5913d4 CLINVAR:859603 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae292a42-cf86-41af-a269-6f2fdbf38906 CLINVAR:859603 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7ed95c5-4155-435b-9315-9346cadfd3a4 CLINVAR:429629 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 248f0e76-86eb-4f3d-b0b6-f7eff9b2cd4f CLINVAR:429629 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28179d96-5681-4507-8f34-4cb8bf34f90d CLINVAR:11824 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a139958-c54e-4947-8ac2-0204f51152f1 CLINVAR:11824 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62b772d5-3f16-46ab-b911-aae1de0a0699 CLINVAR:11503 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d45fa24-0960-4f6e-bda4-e696193aece8 CLINVAR:11503 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3387101e-0004-4055-bf1e-74d4ed96a106 CLINVAR:503729 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0999814-8dd1-4135-9ecc-b14b45ce7b5f CLINVAR:503729 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e036313-0ac2-42ca-9a9f-30370ce17c68 CLINVAR:11819 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f26b9e23-1cb8-41bc-bc22-b7cd7b2305dd CLINVAR:11819 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67887724-a5f2-4ada-8f05-8f679eca32bc CLINVAR:7371 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 110042eb-0d7c-47f3-bcfd-019eb7589bbc CLINVAR:7371 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07164e6b-3443-4416-97f7-5b14853ca8f8 CLINVAR:212379 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0bcb65cc-14a9-423b-bc7e-42eb22518963 CLINVAR:212379 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d174fe53-4445-4438-81c0-39092fda4f5d CLINVAR:451937 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b28faa3-b6a5-4d28-992a-37909d2354ec CLINVAR:451937 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7f82eb1-e73f-43d7-8b34-087cc213b945 CLINVAR:160220 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0504104e-1da9-446b-952f-02da3a09e974 CLINVAR:160220 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 586df438-87b7-435c-832e-6868369b7fc3 CLINVAR:393171 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 972ccfe4-af74-4ab1-92a4-9e1389855e75 CLINVAR:393171 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b0bf228-9403-411f-9347-b678468d5135 CLINVAR:156620 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4036d27-e162-46d8-909e-9e1e8b2f3d9f CLINVAR:156620 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b7b72c1-29cd-4d71-ba46-62649423f1ec CLINVAR:432062 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c71224e0-b358-4491-9ba3-70afa6d30dfe CLINVAR:432062 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21612863-a35e-4d37-b0a0-647f7a204bfb CLINVAR:11844 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 789f8003-f9a6-4981-b555-0dcbf70b79f5 CLINVAR:11844 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa6f7f35-facd-4233-8942-574d1e41d63f CLINVAR:160092 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4661ef4e-0895-4b0c-8f5f-69030a735dd1 CLINVAR:160092 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc69e88b-adbf-4455-8e6c-68deb0596811 CLINVAR:155987 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc3f5f09-fa68-4cf8-b70a-91d810829eeb CLINVAR:155987 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80d5b950-9ab3-44a9-9dc2-8688b0fc6939 CLINVAR:143826 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ead31654-8efa-40c7-b13f-9a28da630a1d CLINVAR:143826 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9eac8cb-e8c4-4788-8e45-73763927ce36 CLINVAR:136199 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a61fa53-873e-4c17-b588-ea9779674c7d CLINVAR:136199 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14ee407a-423e-474f-a05f-2ab3ec1d7b48 CLINVAR:143524 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c42c3126-9f72-4e9c-aec0-b4b774aa8ae0 CLINVAR:143524 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de2fd96c-6a08-45d8-8208-ec7e6239e01f CLINVAR:155994 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1580cb88-2c72-4069-be5b-71e6d0392352 CLINVAR:155994 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a3231f9-16eb-434f-964b-347af835913d CLINVAR:918032 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a27f7c5-a538-45e9-a9e3-6d010e9a7484 CLINVAR:918032 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3403fc50-eb28-4171-889e-f0fb5efded3d CLINVAR:189554 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ce11412-426d-466d-814c-d95bb33e6880 CLINVAR:189554 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9851b8fb-98e1-4ae4-ae31-2f37edaad087 CLINVAR:93542 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0d87500b-5e15-4ef2-bc02-8f1aaa16528c CLINVAR:93542 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65b895c7-9e88-42da-8193-39e9e21144c3 CLINVAR:95268 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c204f8d-9285-45d0-b75c-38ca79bda15f CLINVAR:95268 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7e47624-3d62-40f9-9035-34e1428caf7a CLINVAR:423029 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52cd2a9d-e338-429c-b38b-8a1da0cc324a CLINVAR:423029 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5203dd72-71a6-4396-bbb1-34fa67a42a31 CLINVAR:381549 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a401c8c8-7348-409e-8207-3b8351c14a91 CLINVAR:381549 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5045a3ef-3c05-4ab2-80d4-407aa2bfd43f CLINVAR:156068 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1896e72d-4d53-4143-b02a-096640549492 CLINVAR:156068 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1251018-0ed7-4dc7-8602-211cb3d567ed CLINVAR:7370 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9df56ab-c404-48c3-b9e4-86725d2b49ce CLINVAR:7370 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68d2888e-0876-4eea-a338-d1e92238b2a0 CLINVAR:11502 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6d18f20-6d26-4acc-b304-f51d2b9fbc27 CLINVAR:11502 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a779875f-9960-47dc-a52b-6ad15612819f CLINVAR:21318 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6d80fbc-fcee-474b-9124-25891d417fb9 CLINVAR:21318 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfd3fcc4-8f13-4f14-87da-0e960393cf3c CLINVAR:206556 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fba5daba-d53c-4a38-9ab3-a3abbc65d1ef CLINVAR:206556 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb0020d0-16c3-46ba-a55e-301511264d15 CLINVAR:566733 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 87e4048f-72be-48bb-9db8-82b145f26c8e CLINVAR:566733 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c03e07c-79e6-4a64-b265-e8a3fc89db83 CLINVAR:133032 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99b8645e-9436-43cb-8330-0721bd71eaff CLINVAR:133032 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd4b6523-9fd4-4966-9779-a98c4cdbcf26 CLINVAR:133005 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1901117-380a-4dc4-a76c-b95bb74825bb CLINVAR:133005 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c15401a-d5b2-44f8-abc0-9a4a72aca045 CLINVAR:133013 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4cb5220e-0449-4e06-aa59-614dbc3b9c2a CLINVAR:133013 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc78df85-5966-44f1-ba8a-362b3546f10c CLINVAR:1029908 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17287695-d538-4aa8-8ad8-02ba1beeed75 CLINVAR:1029908 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c187bdc0-cbc8-4e95-bc23-2b63f6682c13 CLINVAR:65956 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9df1e31-26a6-4978-acfe-a1296b121f64 CLINVAR:65956 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2fc4c93-19b4-4093-bb01-0a821ce4dca6 CLINVAR:1120227 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4eb4bcab-a5c8-448e-b498-43a56b1f102d CLINVAR:1120227 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 285172ef-df7a-497a-ae62-7e2961997827 CLINVAR:933345 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9edaf2d2-aa6a-4445-830e-0c6e4193bc7a CLINVAR:933345 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5076c3c-2651-4750-8f86-04cf1eb4c91d CLINVAR:478157 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f83bc8dc-2e9b-4780-8af7-4d4588491c73 CLINVAR:478157 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c02f13b-9c4d-443d-bee0-4bf7f37096c0 CLINVAR:133036 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0b87852-0658-4f65-abf2-876e2e400572 CLINVAR:133036 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffe6689b-08ae-4094-97ae-06dc4abfefcf CLINVAR:1019540 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49cfa97b-f4fc-442f-a6ea-f5ffc62aeb89 CLINVAR:1019540 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 246d753b-7e29-42e3-93b8-40bf43624781 CLINVAR:132988 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 470a8f10-1188-4ef8-a513-6f431702fb35 CLINVAR:132988 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cccb905-46d4-44b0-91a6-f8c60b87f298 CLINVAR:133033 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 67dd12d4-d852-490e-8aeb-8ef6d1b99507 CLINVAR:133033 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fb467c5-546e-4e37-8e0b-af23d3a95f77 CLINVAR:1120229 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8491797-beb4-42d2-84e6-7f41a07505df CLINVAR:1120229 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5385f74a-3e2d-4094-a9fe-624403a34cb3 CLINVAR:133025 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ca984d3-a3fb-4173-baad-251cef343e85 CLINVAR:133025 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed5555f2-5ded-460f-9690-6df318d180ba CLINVAR:1120230 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca869b2a-4b8d-4e79-8118-5e8d88aee4e7 CLINVAR:1120230 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26323bcc-2d47-421d-8423-4f317d08f376 CLINVAR:133040 biolink:causes MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 461090d3-9823-4a41-ab84-32c04139e206 CLINVAR:133040 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edff95cb-6fc2-4a49-9b10-66a74f882e83 CAID:CA16020940 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96bf5f92-3f53-4736-8335-c47de4a25abb CAID:CA16020940 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9187834e-6fc5-47b5-b927-e23e338376c5 CLINVAR:639999 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a35e4391-1b5c-497a-9d18-e3424fce7481 CLINVAR:639999 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f89ac42-a60c-4b9b-9da2-37efd5f0a408 CLINVAR:161377 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d6c10c6-751d-4e72-8fd6-ebdf50a7dc0f CLINVAR:161377 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0503414-46e0-4f75-89bf-a1df24e9750b CLINVAR:102582 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d830c44-c6b5-4343-8456-1f0eb721bd7e CLINVAR:102582 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c80fd0d3-c813-44a5-90f5-328aa4d2e454 CLINVAR:102554 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 580adcfc-d13b-40d0-a9fd-4bf57a46bd40 CLINVAR:102554 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb8e4f20-0ce8-480c-8721-441b33473390 CLINVAR:133042 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02a2040c-84ee-4c8b-af44-3a9db1dcb853 CLINVAR:133042 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0901f345-f8ee-40a2-96b9-f3b0bb8fb9e0 CLINVAR:590447 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 109bd47b-cb5b-4d85-a9db-b178855e7826 CLINVAR:590447 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ee6e313-df47-482b-b544-752cff2b8549 CLINVAR:478199 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd6233ff-1dfb-48dc-a85b-b03d291c89e4 CLINVAR:478199 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 108e3da5-686b-4d4c-b3c5-8d40795d349f CLINVAR:65941 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02f8835e-c302-4396-8b10-324b8c6dcfe9 CLINVAR:65941 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b521f494-c72c-42da-b8e2-3d3f8278bf87 CLINVAR:133055 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2817b87c-186f-439c-94d8-1092f6e66fde CLINVAR:133055 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9a09f85-7273-4633-a04d-a20c8fb3bfb6 CLINVAR:285857 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 726e0ed4-2248-4e4f-a23d-1fd51f4edfb5 CLINVAR:285857 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d4fd358-14ca-4fd9-8d7a-51a0dc6bf7ed CLINVAR:133053 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf62210b-09f8-45a9-900c-7693e30ca188 CLINVAR:133053 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23df045d-4c71-46ba-bccf-1f31c56b45c6 CLINVAR:133056 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83eb533b-dee7-462d-90c4-2c9a7df3c2bd CLINVAR:133056 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4a3264c-2c10-4cd1-af64-4623f18ffaed CLINVAR:654427 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 730a8399-619d-41cd-8227-74298c6b097f CLINVAR:654427 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fe71f5c-0646-4be8-b180-d6838dafa5d2 CLINVAR:478187 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5665de9f-b34f-439a-a4fb-2b5fa4d2c284 CLINVAR:478187 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbb76e2f-5881-4be5-ad4e-5139c446bc90 CLINVAR:590453 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a4da740-6b87-42b0-830f-56d052383a92 CLINVAR:590453 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6687b32-f974-4c0b-a93b-8302d9fc52e1 CLINVAR:133038 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df04af4e-908e-4ebd-a380-e5168c287893 CLINVAR:133038 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49aa128d-6f27-4419-a6e2-aab44e66120f CLINVAR:133057 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4ca4690-832e-4d96-afc6-4b0172da55dc CLINVAR:133057 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08ced209-9b62-49c4-a2e1-dade703ee00c CLINVAR:133068 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8989eef1-ccb8-4d18-84b2-eaa9e711d3d9 CLINVAR:133068 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca5fde48-d656-4dec-85c0-d25354dd4c20 CLINVAR:590405 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f42b4f22-6608-4f70-82b0-062abb2a7be4 CLINVAR:590405 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5d6cd18-915f-4803-b87d-442b7eefefed CLINVAR:590413 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 199af04f-bc89-4231-9ec8-f388c6c245a0 CLINVAR:590413 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50c388fb-f9b0-4497-b201-29fe648323f1 CLINVAR:1120228 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77aa1002-0295-4cfa-8cde-3c6ff2c50d8f CLINVAR:1120228 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 061ae22c-f9b8-46f1-878b-5bde2881790b CLINVAR:133060 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 08f728b3-8ae2-4689-99db-1cf2d8085f7d CLINVAR:133060 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8ec2348-6d34-4a0b-87fc-7ec448fc7754 CLINVAR:102754 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 932f728c-118a-4577-bd7f-21fb558c4648 CLINVAR:102754 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bd2bcb0-46fe-40ea-8983-4a75c3c87d92 CLINVAR:605 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6bbdfdef-2554-48db-8bb5-203c42016f49 CLINVAR:605 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da537366-486a-4813-a211-1028524c4238 CLINVAR:102808 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2074734a-5b25-42d2-824f-50721100f597 CLINVAR:102808 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79bce724-8fac-44d4-9be6-4bb6537e4a57 CLINVAR:102780 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c6c96eaa-0d99-4125-bb9b-d04649547caa CLINVAR:102780 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68200824-9bdb-418a-a1a2-3161bc966df8 CLINVAR:102496 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d5308522-5cd5-4538-bbbb-5aa6311dba58 CLINVAR:102496 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8edb0e18-e0f5-494c-bf1b-0d5d7bc06fed CLINVAR:102484 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 654fb3db-7b38-45c4-bec5-a0cd6c8856c0 CLINVAR:102484 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1faa487-0156-4254-9102-7ceb05e3a344 CLINVAR:102494 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a1349281-1fa2-4c76-90be-d71d01587a7f CLINVAR:102494 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc4b0f27-7a0f-4441-af9c-7473399985d8 CLINVAR:102562 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46fe05ad-535b-4308-96df-c050d1f72989 CLINVAR:102562 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1d8be1c-ae5f-4ecd-b314-ec88269fdc33 CLINVAR:102580 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72919f98-3a4c-4ae7-a02b-ac97e34e68d9 CLINVAR:102580 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0391c856-4182-4003-a098-67d7a220dd21 CLINVAR:102481 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dda7a811-6600-4433-bf59-9ef82f33e310 CLINVAR:102481 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e598d06-d228-4ecb-aa8b-b33865631327 CLINVAR:102479 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a2ccbc6b-40c5-4a7c-a199-8f1efb6c9762 CLINVAR:102479 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd0dbddf-65a6-4342-aee0-9ff5a7055e2d CLINVAR:102480 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df5dffdf-cb58-4918-babc-dd9564317f09 CLINVAR:102480 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a1e7ab5-74b9-4b68-ba64-b1c37a584635 CLINVAR:102482 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2251b56a-e3a2-4a94-959f-5de133de81e5 CLINVAR:102482 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9756bda9-ffef-495c-a3c0-96093c9da95f CLINVAR:102755 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 48649117-d146-4393-99be-ab7ee53c5670 CLINVAR:102755 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d0cb406-a81d-4f3d-903d-f17c18d0f449 CLINVAR:181207 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 991ceaa9-e471-43eb-bb31-de4f0142a087 CLINVAR:181207 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42ea7773-a5ee-415f-983c-b46229588676 CLINVAR:181282 biolink:genetically_associated_with MONDO:0008409 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7df6836a-b6fe-4dea-a96e-9ecaade11b54 CLINVAR:181282 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fe85d38-5c26-452a-989c-185eb16266a1 CLINVAR:42999 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8244fbac-8f04-4cdf-beb3-4afaad1d5bd8 CLINVAR:42999 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e84e3b8-ae90-43f3-9275-d622c04b0220 CLINVAR:181285 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e26c651-49bb-4929-b98d-ee657a48afc9 CLINVAR:181285 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f57fcc7-97ce-4f46-98da-e5894b24d4e1 CLINVAR:14094 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 163ebbb3-a911-4adc-b1c3-e780151de710 CLINVAR:14094 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 811f080a-614c-4ca4-96d3-bc548b1cebb2 CLINVAR:14113 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae6a8258-df6c-4108-a11c-7a8d301a06fe CLINVAR:14113 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3644d488-7d04-4dc1-9cf0-43ef752a6335 CLINVAR:14118 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b014b21-9a4e-4810-b424-2427e7f4e265 CLINVAR:14118 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb4a0d00-ad0a-42f7-a479-8faf18c31458 CLINVAR:14126 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 261ddb82-d31e-46e0-b591-8cefdc6ff13c CLINVAR:14126 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d16e5aab-543e-471d-a2da-b0730fb3c0d2 CLINVAR:14129 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 537b447b-d992-46a4-925a-578c047940f9 CLINVAR:14129 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad44e07e-449c-4e49-ab0c-ba9e95fda0f4 CLINVAR:418517 biolink:associated_with_increased_likelihood_of MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7aaa39b-a488-457f-8d0b-de2c17184ceb CLINVAR:418517 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77aeef7e-eeb9-4211-a09f-b2e6b743add0 CLINVAR:185814 biolink:causes MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ec98f97-b851-40f0-a7ee-0de887c97a9c CLINVAR:185814 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e62e8458-aeb2-4c90-964a-c4fa935c5751 CLINVAR:656751 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b61143ad-75b9-472a-a6c7-e719d2db6364 CLINVAR:656751 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca41ba7b-4155-4a57-b214-3ec90d401506 CLINVAR:186587 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78a4e680-f6b6-4104-9b00-69e3f15cbbbb CLINVAR:186587 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1291623-f5b9-4366-a34b-a40ca63ec037 CLINVAR:142714 biolink:causes MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e23898cf-2fb5-46f7-bbc3-e0a74df144ab CLINVAR:142714 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33eaf10d-a201-4926-977f-0eb195129f63 CLINVAR:218342 biolink:causes MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0a5a33b-2ec1-4efa-932e-f4e42ff20365 CLINVAR:218342 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d11c9e11-86a9-462e-8785-1baf646ee8b5 CLINVAR:1172924 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb1ec0ea-f3bf-424a-99be-d803e09e859e CLINVAR:1172924 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e17d06a7-be16-4de3-a410-3529e13009bb CLINVAR:1019612 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a8134d14-dbb3-4419-94e8-7fee92df1897 CLINVAR:1019612 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6d7e8ce-b167-49ea-abd5-dcc41742ecf5 CLINVAR:182933 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74217145-5bd3-4451-a261-350fe97b0f36 CLINVAR:182933 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a709da1-4a83-4b6f-b799-ca341d822253 CLINVAR:182938 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c24c5b0b-aa01-43f9-88e4-e809f743cd23 CLINVAR:182938 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65a8b7ac-e378-43ed-88c4-fbbd2e928d21 CLINVAR:182953 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 250ec5ec-f2ca-4ff5-a76d-b9bc4f5708b8 CLINVAR:182953 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38cffc7d-370a-4d09-bdbb-a565c9d7bed5 CLINVAR:188342 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64135341-d028-4901-af31-c7d45d1697de CLINVAR:188342 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b680ca9f-4b10-4d00-9397-84ba8b51b682 CLINVAR:413774 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e8d77e9-8b31-4608-ab8c-eb09c8682e15 CLINVAR:413774 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cdb3117-fcbf-4448-b6c2-a5d137a6ed5d CLINVAR:161273 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a081969d-b175-47cb-bc18-a54502acab7d CLINVAR:161273 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae9bc875-3c8d-4a20-b40e-bb5a77391e22 CLINVAR:375775 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42806eae-8d4c-42fc-98fc-849251d771ee CLINVAR:375775 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 190b712e-8bad-47cc-bdb9-ae83db70c1e2 CLINVAR:252350 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d93b39dd-68d2-4a32-840d-ec15d2f9b590 CLINVAR:252350 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20ed2f1e-39e5-4adc-9539-591b060dbb4b CLINVAR:3734 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9871569-cb06-4948-ba52-03937dc542ba CLINVAR:3734 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a54b2a4b-82d9-4917-b03a-6080ecd5158d CLINVAR:36462 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa4fc61f-4139-4ac8-8dc3-db597591bb92 CLINVAR:36462 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 679c6d4f-97fa-4230-8f41-a69e2fd4ce1b CLINVAR:252304 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a7603c4-084d-492f-a5cc-b8a31e395bf6 CLINVAR:252304 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c282c6d0-558e-4ecd-9cc3-cf17d83ef22e CLINVAR:3744 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 20e88090-9706-49b8-823a-14c14400d630 CLINVAR:3744 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a7a185c-7705-412b-ae49-1d9919509568 CLINVAR:183130 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dca9de3f-3ed4-44f1-ac30-cda80c015e58 CLINVAR:183130 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 871ceb0c-82d3-4652-8c35-76a4c102562a CLINVAR:252219 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29644ede-33a8-415a-8d2b-8ca7a165317f CLINVAR:252219 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65120d4c-9f0e-43df-ab0a-3377de089d21 CLINVAR:252188 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 19f13bf9-baca-41bf-8f3b-98be918ad7ac CLINVAR:252188 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26d78a6e-b9a1-4310-bdbb-5f829b15ec2d CLINVAR:3689 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2aea25d0-8078-412f-be09-4204178b7266 CLINVAR:3689 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2604f3a9-05a1-4eec-9f7c-4f9a3d288d72 CLINVAR:252136 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e13261be-9e64-44a6-96d4-d3b2a7e65310 CLINVAR:252136 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90f1eb9a-6d8b-4637-b7bd-450266f90e1d CLINVAR:252135 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b591fea8-4d93-47fc-b3d1-7cb51cae827f CLINVAR:252135 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c5f09ff-c189-418f-9a1c-951072a4fa4f CLINVAR:252083 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b960647-9503-4aa1-b158-a1fae3b2ae85 CLINVAR:252083 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f55c951-ffdc-4446-a883-5369b3987b0b CLINVAR:161264 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23fc6f4c-efa7-427f-aece-c6ab195fdea6 CLINVAR:161264 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa5e9d2c-d145-4500-a28c-921e4d63fe56 CLINVAR:161290 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ea485e0-1e7f-4a77-8324-0f535ec7d1d5 CLINVAR:161290 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c50d541e-f6bd-44ea-8c30-ea376339f63f CLINVAR:161271 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a96ce630-5726-4ea2-9af6-2176ff98dbe5 CLINVAR:161271 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89a42890-b650-4b2e-85d1-829c2cbee67e CLINVAR:183120 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a456d440-a5c5-4813-8bae-7d3bf4f456a6 CLINVAR:183120 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0851b6be-9772-415f-87cd-c52245e1bc31 CLINVAR:251783 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c729b8c-518f-4dbb-8790-8d9cfbdf3f29 CLINVAR:251783 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e937922-2cfd-400f-aa85-713bc7f3635b CLINVAR:161276 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 056bc4b2-e1ed-4139-9942-a418071c9184 CLINVAR:161276 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a1f291c-2cd7-4d5c-9b0e-d7a312e2a43c CLINVAR:36453 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb7b643b-8264-43db-9974-e70fea6005ea CLINVAR:36453 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a327ae27-d523-4f7a-a025-98ae7489a130 CLINVAR:228798 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fc55506b-d7ca-4a9a-a837-62ab6fa2f3cd CLINVAR:228798 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 113240b2-245c-41cf-a8ee-1a6d18d57bd4 CLINVAR:3746 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9b5712e1-5347-4a12-8e17-7c63383b59f8 CLINVAR:3746 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ccac368-9d36-4b53-b147-e8094a56353a CLINVAR:251706 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e83b2282-f320-4e6e-aa5b-f51f107a7219 CLINVAR:251706 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7554f77-a17b-4c4b-9a71-faaa9e560517 CLINVAR:36450 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a8dbf8b-d008-4d7c-9b68-173a32be78af CLINVAR:36450 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92f1408e-ce05-43e8-b8b3-81af2a44f2d2 CLINVAR:161282 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05807aef-40fb-4d27-9fb3-5e175a0d1c35 CLINVAR:161282 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6189827-7b64-4690-b886-8551b7180d71 CLINVAR:251517 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9d82385d-9fd0-4ce3-acbc-a46a40a091ca CLINVAR:251517 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 876bc5aa-8656-4922-8598-d7856e4a1cf5 CLINVAR:161281 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b7e0414-da57-4b49-8d71-65b14fb64ee3 CLINVAR:161281 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8823a24-b058-4fcd-a0d0-68d2fcf31310 CLINVAR:251603 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16d1d7b8-9bbc-411d-92ea-ab90cb82751c CLINVAR:251603 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d8ac124-c7a4-4b2a-ab77-2dce98c0caa2 CLINVAR:161268 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6fafe31d-f869-450b-8bf1-1076c639b649 CLINVAR:161268 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7e14a8e-fba0-464a-80e5-c4a72aafcb7d CLINVAR:251106 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 41855629-9d85-415b-a54c-67f1f1fa56e8 CLINVAR:251106 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52fb0f14-b11b-448a-94b9-24c51f3a814c CLINVAR:161287 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 386fd929-926f-452b-9332-c85bc9b0090c CLINVAR:161287 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ff044c4-8302-4b11-9a4e-bcba92c82f1b CLINVAR:161261 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51a86ecf-2fda-4cb0-b11b-076d16986d22 CLINVAR:161261 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6c26bfb-2b48-4f25-919b-c52f1dba15d8 CLINVAR:251422 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a46f34d-1e19-4fb5-b384-05eb57b46012 CLINVAR:251422 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eb891c3-63c6-49bc-979e-0f68c0e6b105 CLINVAR:251400 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c01fbf2-88b0-4862-b8df-562b4ed605dd CLINVAR:251400 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11ce2f18-2022-4445-9a28-5c0345f6df68 CLINVAR:225402 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a2a9f6b-cd61-48d4-8ba2-31198bf8b0bf CLINVAR:225402 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a918a1c2-846d-40fe-9192-c00bd1e523f6 CLINVAR:251162 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 32f3de21-5b8c-427e-9561-08448f9b1951 CLINVAR:251162 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f164c2a9-c31a-48a7-9ba0-6657e89d0b28 CLINVAR:3736 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d34cc4c0-b3ae-4923-97c9-e039f31605f3 CLINVAR:3736 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d41f4cc6-c5ec-4887-9b17-687e3bef4d18 CLINVAR:161269 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f0571c3-e051-48ff-b0c2-1f1cee439d50 CLINVAR:161269 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9455ff0c-728d-4ab1-b7e4-b2208ac7547f CLINVAR:251100 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b87d7a51-ae3f-467f-809d-1ce21bac43b7 CLINVAR:251100 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf588d24-4fff-4523-bb8d-e31d6f6c905a CLINVAR:3685 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eaa2bfe8-8e47-48ad-b8c5-63771c11dd71 CLINVAR:3685 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 448b2344-509f-4822-8019-e799b9188e59 CLINVAR:161289 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d3f62cd-2a68-430f-b71c-22fca2e78e35 CLINVAR:161289 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b36624c4-dae7-4ad1-ab93-99b0eb91b667 CLINVAR:251034 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e174c23-c18a-40d8-840e-3fa897f20915 CLINVAR:251034 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f5a9462-be3a-429a-9d10-b09830a1aa5e CLINVAR:250968 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc0a4e80-443c-432d-9340-26ee00572583 CLINVAR:250968 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10fa4354-16bd-4e75-b300-502a61b5afea CLINVAR:102610 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f87393b3-f535-4d45-9890-4f2363a0562c CLINVAR:102610 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20f7d552-fc7c-4c31-b495-a01d03097578 CLINVAR:102627 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2ac4a7fc-be9d-4aac-b355-f282f7eeca2c CLINVAR:102627 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6453da1a-fa20-430b-b083-f78e691ee41e CLINVAR:102766 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 73ac445b-bdad-45cc-ae43-47326dba91cd CLINVAR:102766 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9cd0444-5a51-47a0-a8ac-cf50f8ca196f CLINVAR:102488 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4edf6217-7ae6-451b-805d-576d8966819a CLINVAR:102488 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 702d6fdb-21b9-4d0a-a71d-f981b1274f84 CLINVAR:102521 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0393096e-ac1e-42ff-97e4-1a4a4d9cb18a CLINVAR:102521 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dc60d9f-9068-4f6b-964c-5bfcab61e980 CAID:CA16020794 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aac0bbaf-e035-4327-922c-849d1bdb3bb1 CAID:CA16020794 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c21dd9f-ee58-4128-a8cb-a83b0eb9ba84 CLINVAR:102600 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9fa94d8d-2ba9-4490-9cd7-448ef3a2c43f CLINVAR:102600 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e0562d9-0d05-4570-ae3d-34fbc490087f CAID:CA16020963 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 826704ba-5d87-4ca3-aebb-aa5efdf8280b CAID:CA16020963 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60f71c61-349a-427c-b458-4a2c5a2b123a CLINVAR:556817 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 717ae12e-d376-4619-88e6-67304e45fcbe CLINVAR:556817 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9614b0ac-e416-4026-8b77-14f12887cde6 CLINVAR:14121 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c623736a-c6d1-43c1-b83a-ee5ba63128c4 CLINVAR:14121 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dffac77-fb9a-4be4-be39-d94e9c12c1bf CLINVAR:214322 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60da3908-9fd3-4b39-97b7-614e467cec33 CLINVAR:214322 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 170eb08d-028f-4a20-87d6-a835562c13d5 CLINVAR:496427 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d7d31e6-3164-4ced-8440-ad720e25c568 CLINVAR:496427 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bed8e01-e32e-4f87-855d-47c2757e316b CLINVAR:504502 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c8cd5af-03b3-46a4-a145-7fefba0119a3 CLINVAR:504502 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47b23de7-9966-4e99-b4c6-ba072b3709a1 CLINVAR:1210168 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83ccf06d-709d-4242-8b83-d3f7a1dc52c7 CLINVAR:1210168 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fea25d02-a9fb-49b6-b2eb-4d00d43cda82 CAID:CA772541579 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc539e2f-bfba-49b7-8e23-2d0b040f50a4 CAID:CA772541579 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6be947d3-baa1-4e48-a780-ebcd36912f0b CAID:CA290954030 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen acd5cc05-c3ea-4f7f-9c98-d22b70729d57 CAID:CA290954030 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9df15d83-075d-42fa-9942-d4d9635bcb36 CLINVAR:627288 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f441a9e-2faf-4ed3-8d70-f197e8dc29f8 CLINVAR:627288 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43c30ff0-0e7f-4df1-8403-abdad68f54ad CLINVAR:13568 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 591986c8-bc4b-4244-ae17-a1738b3d1397 CLINVAR:13568 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 324163e3-132d-4441-9139-29323c43efd6 CLINVAR:1210185 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 66d43da2-fa58-4189-9d46-3c6df87c1d10 CLINVAR:1210185 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen affc3b19-a53d-4f3a-91d4-8bc65fab0397 CLINVAR:695644 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 70fa6bcd-791b-477f-b929-1f27ea2bd116 CLINVAR:695644 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d25b6170-af24-49bc-b270-528265f9b0e8 CLINVAR:13569 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a958b391-3dbf-4d69-ac83-c224c010da43 CLINVAR:13569 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cde46d5c-ea5a-4b66-9b03-ba890b2e68e3 CLINVAR:1210201 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72184dd3-ae90-4325-b138-a03bb25bb10b CLINVAR:1210201 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b074be69-7243-4f23-98e9-8b5b4368a697 CLINVAR:627052 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce815340-ed65-48fa-b7c1-ab58759cc4ff CLINVAR:627052 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74ee59bb-446a-4e1f-8569-f5a477759e23 CLINVAR:1210202 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 870cf0a9-1bfb-48f4-97f1-9babaf550ece CLINVAR:1210202 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36bd47e3-7e5c-47ac-aad7-4b3603088bc8 CLINVAR:977130 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 718bd1be-c461-4930-bb1e-92567cc78703 CLINVAR:977130 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 747447ca-b894-4900-984f-3a23b78e0d64 CLINVAR:13555 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9eb29103-30fa-4a64-a02b-25836086b025 CLINVAR:13555 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 948ea300-ef0e-4cac-a669-9d32f5f39098 CLINVAR:13553 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51f46cc5-0f85-416b-9f59-0551e7b2fd6a CLINVAR:13553 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db7d0592-0fd5-485d-a882-a2f9b3041019 CLINVAR:1210203 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 092231d7-2a30-4680-a65e-ca8d18120658 CLINVAR:1210203 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 118183e1-ba4b-4eb2-93d8-87e5dc031938 CLINVAR:977129 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 71523108-65d6-405e-ace0-b7cad0f372e9 CLINVAR:977129 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c0b79d4-e76e-4e42-a9c4-30221b117a93 CLINVAR:323865 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be7a49d1-aef5-4843-9a18-4bcc274c7ecb CLINVAR:323865 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39873552-361c-40c8-be42-30adb4a44e52 CLINVAR:1210206 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 70699bf6-9dbe-4983-a4ca-1b0f629acfa0 CLINVAR:1210206 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86faad15-3c47-4de3-aa12-b72257446276 CLINVAR:556718 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a90e3f90-6bea-4b7a-93d2-ac3178bc047d CLINVAR:556718 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb251b2b-0021-439a-924e-d9a947819f87 CAID:CA915940722 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c2d3e6a-664a-4080-9037-6d8ae7cd1da1 CAID:CA915940722 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f247fa33-0bcc-43d5-8037-dc7806a205b8 CLINVAR:1210169 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98aa95a3-43e4-4706-8202-36619db6ab24 CLINVAR:1210169 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68bd166d-d357-4802-9810-507678176025 CAID:CA400023704 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a013fa43-270b-4572-871f-7180b0fed544 CAID:CA400023704 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f14a2b3-92c4-4962-a0fd-81df6c7a53ad CLINVAR:1210171 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bab34739-481a-46af-bb81-150e9f763189 CLINVAR:1210171 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0873de42-143a-4e67-91ea-fa2e14713015 CLINVAR:1210172 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 87ee5f64-f3af-4cab-b75d-32d15bfaeac5 CLINVAR:1210172 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9e55842-030e-4255-b128-665e2effd961 CLINVAR:1210173 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e9049fb9-b717-4285-85fc-0c3bf77faa5a CLINVAR:1210173 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 431a0582-3b46-4f7c-8e4d-3d85e70ee4ce CLINVAR:1210174 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34f19282-03cb-4077-87cb-cb79730b4d79 CLINVAR:1210174 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4298848e-2c64-4da4-a95c-2c7fd0aa7874 CLINVAR:1210175 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cadcf57f-bdae-4f1a-94bd-31dcc0b707a3 CLINVAR:1210175 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a684d3ff-cb45-44bd-bd5a-80382be48a61 CLINVAR:1210176 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d82544b-bb4a-4d55-9997-da6ff45c580a CLINVAR:1210176 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e67092e-fb0e-4359-9cf0-443dda9844a8 CLINVAR:1210186 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c16fadcf-2227-4261-b09e-303b83526819 CLINVAR:1210186 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 013afb17-6b04-4302-9292-e8670e7a0c24 CAID:CA915940376 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e993a718-2d98-4e94-8e63-3db34eec4fb2 CAID:CA915940376 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af142ccd-641b-4018-b237-8b30c0fe089e CAID:CA915940375 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5febabd8-22d4-43c2-be03-bb6d776d12f9 CAID:CA915940375 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae0a878b-bebc-4fb0-bffa-ad97b01d2227 CLINVAR:1210188 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 407883f1-51af-488e-a28a-a3fd2935cc93 CLINVAR:1210188 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cae0baf-87f0-4ffc-8f8d-95727e6639e6 CAID:CA915940723 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ccdca8d3-631b-4bb0-9f91-154b437d9889 CAID:CA915940723 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 497c0354-497b-4413-b65f-5f997448e139 CAID:CA915940724 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14174d97-c0db-4a8f-8895-bf1dd26ad530 CAID:CA915940724 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b8da915-9575-4b72-af9e-86541f4fc45b CLINVAR:1210191 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e8395229-00ea-498b-aefd-549b64ab4106 CLINVAR:1210191 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 056336ea-7ea8-486e-9946-6e241850fd32 CLINVAR:1210192 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9d7d43b5-a4b7-4e0e-85b7-7190fc3d7f43 CLINVAR:1210192 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94b1a9bd-ca9c-426e-b1da-d253efa6a0d2 CLINVAR:627239 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf10da0e-6457-4475-8a3d-2be52238f7d7 CLINVAR:627239 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcae6b32-eea0-4d15-a6d9-aba4dcc488b4 CLINVAR:2902 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 842945a2-4b28-411e-98ae-bc93e2a08ae5 CLINVAR:2902 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10605e2c-933b-48ad-b382-2e8cf4602d81 CLINVAR:631773 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de027fe5-2b52-40f3-a558-7d88ffb8ce16 CLINVAR:631773 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7bb2131-6618-498b-9b52-c56333cd27c5 CLINVAR:977127 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 08a3cb3f-ce70-42c8-9bbe-efcefd55dd42 CLINVAR:977127 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04a28baf-b89d-4f26-939f-704375ff5188 CLINVAR:971253 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3edcfe0-99f8-4090-90c9-76df29446cf9 CLINVAR:971253 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8456fcb4-de67-40e3-8e58-5dd7df85f54f CLINVAR:627292 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b4489e0-5173-46be-9859-143b8d2fc580 CLINVAR:627292 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83692e7d-5513-4ee2-80ad-1993f8cfe230 CLINVAR:1210204 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b45b555-0947-41ab-a24b-40f0974b9127 CLINVAR:1210204 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e542e85-f9a2-45f3-bf3e-15aa284c5fd8 CAID:CA399803781 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 021d4621-638d-487a-a994-c67abdaf5c29 CAID:CA399803781 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ab9d42d-d8ae-4e02-85c2-943bfdc1dfee CLINVAR:458368 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06729075-aceb-44fe-957e-ad1ce63404c1 CLINVAR:458368 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 843484e7-3f3e-44e5-9192-23327ead714a CLINVAR:627093 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e119d62-674a-4fc3-8eac-fb7220c95713 CLINVAR:627093 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 120afc36-4419-40bb-b03f-4ae87e9dd489 CLINVAR:977128 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 48dc9019-f3a8-41db-aeac-90c49f3119db CLINVAR:977128 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65a85f35-578f-426c-b706-ca669d2d1bfc CLINVAR:2889 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26f8ebe5-3b8c-4207-a588-dd6ae41a9f18 CLINVAR:2889 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf0a462e-5c4d-428b-85d1-656aa4680515 CAID:CA400033218 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2802d8b0-4f2f-43fa-b345-d8655ec59456 CAID:CA400033218 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9beeffa-644a-4ea2-b27e-bf1121147a1b CLINVAR:1210209 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ea52ef9-e6c3-4efc-90af-03152a57d1e9 CLINVAR:1210209 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fcfa1bc-a573-4135-96f5-60acd9575fba CAID:CA291224645 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 680416f8-263e-4d81-9589-1db7befdec56 CAID:CA291224645 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89254669-4af1-4a58-86ed-ad9f58d4795a CAID:CA400023604 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25e6cabe-db7b-4391-8898-36f11c15a037 CAID:CA400023604 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e127f177-f61a-4923-8c46-623126b6f26e CLINVAR:800945 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0de9eb48-1e0e-4439-95a9-3b5704da174b CLINVAR:800945 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 948748c5-3043-40c7-8ded-8e97c9cd4d77 CAID:CA915940593 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0d2564b7-ca43-4e5c-b331-cd0283f5a02e CAID:CA915940593 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3df0e0af-7d16-472d-8ded-a033cf0e1400 CAID:CA290947484 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b3b1098-b3c1-48d1-9706-66e6dacdf58b CAID:CA290947484 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27b3a3ec-a1ce-462c-8b6f-44ce160b49e7 CLINVAR:1210180 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64168168-95ae-4e3f-82da-421d6441b378 CLINVAR:1210180 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c19dd857-1def-4b0d-b5e9-8ed988074c48 CLINVAR:1210181 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43cd2333-c07c-42e0-b4d6-17f7434c6e69 CLINVAR:1210181 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20870efc-745b-4f33-92bb-6d3cb1c56913 CLINVAR:1210182 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c12a5b9-a2a6-4bd8-9ee5-a4c9f7b6642e CLINVAR:1210182 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be939374-fdad-43a7-ac89-0866a13b5c5c CLINVAR:1210193 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d0c8e05-a790-4e2c-a7e5-5a5fdbd444fd CLINVAR:1210193 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aba7d42c-3e36-4376-afd3-0c97ca1108b2 CLINVAR:952998 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3f398cc6-bf42-4643-a83a-c99b8b59af52 CLINVAR:952998 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23cc3f8a-bf0b-41e1-a79a-d202ced9f868 CLINVAR:953028 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe82388b-4e3e-4753-a2ad-e1f0cb37f937 CLINVAR:953028 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fefc88c-2b81-4e9f-921e-9a19b0882130 CLINVAR:953032 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d43a31f-cffa-4ce2-8fc3-5541f319fc97 CLINVAR:953032 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8dd9d62-89ab-419f-ab34-054e6dbf3dbb CLINVAR:2903 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1736e6ae-8df6-47ed-afd4-b5ed60ac8579 CLINVAR:2903 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e56b87c-cbb0-4478-b616-c0e77114e046 CLINVAR:627296 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b85e0ee-8f5c-4bac-9736-d66de74ca943 CLINVAR:627296 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bba3038-3ea0-4347-985f-bd59c1f69ecc CLINVAR:953037 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bdcb9ba9-d25a-4653-a49d-36287799e321 CLINVAR:953037 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6574a64-8e79-47d1-bab3-fefb0d3995dd CLINVAR:13564 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c3b8364-b4dd-4125-baa3-3607c26bf6f3 CLINVAR:13564 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 723cc490-3320-4f17-b1cf-634708e4e47d CLINVAR:953016 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97e78f43-97cf-4022-acf4-92ad438742a7 CLINVAR:953016 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 252b504d-64bf-40b6-ae97-62afc1cb1db4 CAID:CA8623361 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6350e3d-569c-405c-bc19-ef63af0517d8 CAID:CA8623361 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 507935e2-7056-4d17-bdfb-782a0c03f5dd CLINVAR:953046 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2c94037-fe5e-4fd7-8b79-b2c451f6c543 CLINVAR:953046 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06ce481d-a167-4bf3-8a2d-79b86ab46d5c CLINVAR:977132 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cdf41d22-9bf5-451b-8f04-8794b70facf9 CLINVAR:977132 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e22b4d1c-e740-494d-96e7-9248bed84901 CLINVAR:1210195 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ac75cff-2cc9-4e56-98da-240f11ef98bc CLINVAR:1210195 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb0cd738-a9c7-4e09-80aa-7d6b5f74a5bd CAID:CA915940296 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 806a3b40-fb20-4771-9b4f-8dd075ea1883 CAID:CA915940296 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98cbb993-ca21-498c-9993-b789f4026df2 CAID:CA915940787 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2576e639-0e4a-41aa-9320-fb4065f27d6d CAID:CA915940787 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bdd2a7c-cde8-40f9-a81e-33596959210f CLINVAR:1210198 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17109b4a-717e-4973-b0e1-ee6eb8c511c6 CLINVAR:1210198 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31225c16-9348-41cc-9a04-80f01fee77ef CLINVAR:850886 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd1d4428-57d1-428e-a6cd-28ab27825c6c CLINVAR:850886 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24ea0427-e405-427a-8520-d4e84c1bacfd CLINVAR:1210199 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 58695eda-9ffb-4188-9bc4-dd550f1ca9d3 CLINVAR:1210199 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd26a4e9-39a4-48c7-94bb-e596054f9217 CLINVAR:1210200 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6c3769d8-5009-4e4f-9a76-57f23e81592d CLINVAR:1210200 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ffbd7aa-3e48-4541-aff2-e622d5540681 CLINVAR:2898 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c492170-eff1-484c-ab12-d013f5931699 CLINVAR:2898 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc9e0712-18ea-46e9-aae9-cf0fdbc0946f CLINVAR:2894 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6bf22007-4e5f-4a73-9bfb-b2fd9163d489 CLINVAR:2894 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4390a37e-df63-4d7d-8b70-7f1916e4f949 CLINVAR:854735 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4cc677c3-4fc9-4a3e-b97f-2bfefa83b5a3 CLINVAR:854735 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5b05b41-11fb-448a-a8f6-3efdfef31b52 CLINVAR:13567 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db81acf9-ccd6-4c4d-8ffe-c6b261cd10af CLINVAR:13567 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d5b5ca8-2a12-4d3f-8991-91e28e355337 CLINVAR:1030781 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 239d1b9a-cbdb-4697-9a66-af9ee04db8f5 CLINVAR:1030781 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b4b3945-6811-4275-84a6-a217bc74f0e1 CLINVAR:627273 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee7c798c-e52d-4251-86d0-ef0f7ddd9610 CLINVAR:627273 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb7c27b6-2251-4693-9287-2f019bd9acac CLINVAR:1210210 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a995f699-1090-4876-ac02-c18226688014 CLINVAR:1210210 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1882853e-1960-4697-8053-530d641fbd00 CLINVAR:2899 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d2e15526-2c76-4e58-8cb8-05679f42970c CLINVAR:2899 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eefd75dd-fc36-43d7-ac16-6714a99b202b CLINVAR:181368 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 269b0b53-0427-46ab-a67f-537b0db280f2 CLINVAR:181368 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ffd1824-4f7e-4a21-b280-45bbcac7e4c6 CLINVAR:42826 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf88bb22-227e-42d7-80c2-e107facc09ee CLINVAR:42826 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9b0054a-1b6d-4c3d-a6d7-09cc33444252 CLINVAR:43100 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 13d7b4eb-cf45-4578-9382-274d48fc9095 CLINVAR:43100 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 005bc677-7fe8-48bf-a8dd-687b22eef645 CLINVAR:181195 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9eec4eaa-a4df-4196-a343-e4fc07452abf CLINVAR:181195 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42727440-cb26-48ae-b980-df4de76a47be CLINVAR:217468 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 648fa337-3f40-447e-96fa-f2827597f691 CLINVAR:217468 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17a13d0c-20f7-4f03-94f1-c82e8a9eefa0 CLINVAR:164289 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00f36f94-650f-40c4-ba42-c273074af5c1 CLINVAR:164289 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dba0fb6-9f54-455b-b7b1-c4f9a2b44256 CLINVAR:14093 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ecb58dc1-876c-405d-8a69-988cff629172 CLINVAR:14093 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a898f49-2b27-4062-84f2-0f13022085bb CLINVAR:36638 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 803a2caa-fde9-45a6-a014-2a6b336026b4 CLINVAR:36638 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7425eb90-c935-4dfe-8630-244e6e251a5c CLINVAR:42818 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5a9cd24-be33-4c05-82de-2a00553300cc CLINVAR:42818 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d733fcd4-c6c2-40bf-b565-a16617305280 CLINVAR:36637 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e895bb73-0e15-44d7-8096-54f16ecf75ca CLINVAR:36637 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a08c1c5c-6231-47f0-8b30-08197fff56fb CLINVAR:133165 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 260664b4-09bf-4c4c-adfa-11740f74718d CLINVAR:133165 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0653479b-85d7-4ce8-9cfa-a5faf708c707 CLINVAR:374974 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08d89dde-4fa9-4b34-9fbc-5914b6f126f4 CLINVAR:374974 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbdaf0c9-7ffb-47d4-bed0-84fec20e1a18 CLINVAR:590517 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6917bbeb-3c3c-4db2-bceb-214461438270 CLINVAR:590517 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8eebd331-9820-4f93-a59d-5293824c3f49 CLINVAR:133168 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7ef4bb6-37f5-4d5f-91e8-475bf1ea9030 CLINVAR:133168 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7836a7a9-aa65-4a33-bda2-a24cbbc392eb CLINVAR:590482 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55aa11d8-df91-4230-8fea-5820a995ed3d CLINVAR:590482 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71342deb-f9f0-4f2f-a1d9-14e5d3efbced CLINVAR:1050940 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93f493be-0129-41fd-888b-dbaa85a2172e CLINVAR:1050940 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba9d5c26-8fd8-48a8-9eda-29b7ab913a90 CLINVAR:808527 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06eb53bd-9142-4807-9e59-50762585aef8 CLINVAR:808527 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdd99c10-fb71-490b-a62d-fec06d089442 CLINVAR:133146 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0fb08d6a-2553-4396-a1b2-29f9e845b4f4 CLINVAR:133146 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5787e9cf-dbe7-4e9d-b57d-15832e61b602 CLINVAR:889434 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f0047ea-0cd2-4c65-ac13-75667ea473db CLINVAR:889434 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3604b9ad-2cb0-4607-98c9-63bd37068dc2 CLINVAR:133166 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81e4086f-da97-4b96-904a-fa7934424c5f CLINVAR:133166 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5014d02-e4ab-4c36-9893-53ec2a8536ce CLINVAR:478249 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4dcf1408-aab5-436f-9cdc-62bcb6805c37 CLINVAR:478249 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a330e525-bb3f-4df7-870f-591511446190 CLINVAR:1210307 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb2ae5e2-31f6-4d9c-8f38-61d441cfbaf3 CLINVAR:1210307 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d67b252d-ad4a-4580-9340-087d2a2f61f2 CLINVAR:1065119 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44eeadf0-3ec1-4f85-b303-8cf80bb5ae32 CLINVAR:1065119 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3b6cb04-6ee6-4485-b539-5cc9e184e040 CLINVAR:590575 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 284939b4-269b-4eaa-808f-2d293578c3ff CLINVAR:590575 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b82e7071-5703-4711-8df1-a13b1ab314b0 CLINVAR:65968 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8c6e39c-bd7f-426e-89d5-6bc784d64eb6 CLINVAR:65968 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f356c0e-5cbb-48d4-9302-80ad2a35c503 CLINVAR:567662 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 30631cac-5276-488c-a7a3-fe0d11e9cb97 CLINVAR:567662 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c859d5a8-0369-420e-9ea4-46f3dd91346f CLINVAR:590454 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd544f3d-7f56-4644-925c-a0fa615449a2 CLINVAR:590454 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f40d4cfa-43ca-4722-be5c-ddd649f3ae35 CLINVAR:590556 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5961cd79-27ee-421c-9219-541a39221ecf CLINVAR:590556 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8321898e-dfa7-45a7-8780-686a26d282ac CLINVAR:133185 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 72fb4fe5-480d-466d-8698-49d0d2fa7163 CLINVAR:133185 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 338bf040-aad8-4c85-ad0c-e97ac40dc75a CLINVAR:133179 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 003b5299-1266-49bc-b780-c177154f80b6 CLINVAR:133179 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 855d0097-36cf-4e19-b453-52e64e973dc1 CLINVAR:167614 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ecb4760e-3f37-46f9-aaae-52942d5d79ec CLINVAR:167614 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82d281a9-e6db-48c8-83ca-a5f77716abf6 CLINVAR:133081 biolink:causes MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9e24b8a-07ee-4047-8f0d-264c272d1109 CLINVAR:133081 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41f8e857-2d6c-4d63-be52-6b5df375313b CLINVAR:590580 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen afec9423-8264-49bf-86d7-b7ade5f47953 CLINVAR:590580 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6de367da-539d-4b0f-9f72-5cfe16ae8ebe CLINVAR:1210316 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b7ff9ffc-dc10-4771-ba82-8fdc48e43204 CLINVAR:1210316 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64c3ec7b-99ab-4cbc-b7ef-edf083a9e755 CLINVAR:1210317 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 62e8700e-8f8a-451c-a2ea-645dd32d0a1a CLINVAR:1210317 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa97bc34-d6e8-44a6-840d-abb24cac9ee8 CLINVAR:133172 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f41850f6-40ae-4953-96d0-8f81d3ab1cd2 CLINVAR:133172 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f156f70-be42-4f3a-a176-3f3f02f24a7b CLINVAR:133126 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74b836cc-100d-4345-9d7e-c7ff3ac5d00b CLINVAR:133126 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e31d1166-9eaf-45d7-8a83-37bb67d08b2d CLINVAR:133018 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47418987-00df-484e-9fa2-d11d3e4fffac CLINVAR:133018 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73490d2b-34f4-4581-8053-16c725622837 CLINVAR:133124 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 369d859c-3cb8-4e6a-9c21-ffe41fed3006 CLINVAR:133124 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6d225d4-8b0e-466f-ae87-12da51985f2a CLINVAR:1210308 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e2bb99f-3c1e-49cf-bfc0-db91d6774515 CLINVAR:1210308 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c571736-f274-4459-9f19-a6341aa3b328 CLINVAR:133135 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d8d7ec1-f39a-49f0-9955-3b47f15b1bf4 CLINVAR:133135 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7de80d3a-e6d3-491f-a0de-d4ab2bcab6fd CLINVAR:1210309 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76b30eeb-b8a9-47ec-90a3-8a5b7e78aa80 CLINVAR:1210309 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d242c7e4-c8df-405d-99e8-bad0b150aafa CLINVAR:133145 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07faae37-8268-45a0-afab-cc60ffe5a262 CLINVAR:133145 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b537ec59-df97-4785-a2e3-585d3cb91bd1 CLINVAR:133150 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45d46750-4593-486b-b7a1-3cf977eb1bc0 CLINVAR:133150 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11b09977-bef3-4cf8-9cc5-37ac6c3f903b CLINVAR:1210310 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac992118-7132-431d-a265-f0fc2106b04a CLINVAR:1210310 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7937c88-aec5-4c95-b73c-72fea3fe6833 CLINVAR:1210318 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd259d24-3155-4fb6-97b8-2885a9af7a69 CLINVAR:1210318 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea54f44f-51bd-4a20-9080-f45c617d7b07 CLINVAR:1210319 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa73d90e-4f8e-492c-950d-fa3134db4395 CLINVAR:1210319 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 338d00b0-6bbe-4355-9d5e-3dd1a7835223 CLINVAR:133158 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d8653c9-64c4-4f0d-8818-fb34f876a339 CLINVAR:133158 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f1ca687-dd07-47a6-b315-fe7fa3df5209 CLINVAR:133161 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e02986f7-adcf-470c-9134-b22f8f1f495b CLINVAR:133161 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27427e53-71d1-48f7-963b-449daef992da CLINVAR:1210320 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65e532cc-277f-4674-a82e-5ff2dad74e71 CLINVAR:1210320 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2f1ed4e-4575-4d24-821e-1aa0b58dc4d5 CLINVAR:133157 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9fb77f02-0ce5-4baf-a27a-35591c6975eb CLINVAR:133157 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92b40307-a905-43f0-9a2e-3fe95608bd41 CLINVAR:133162 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be0ffaf4-1be2-4694-be08-47278e83a3ef CLINVAR:133162 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6758a45a-62d2-4ada-8aaa-cf5b70fae634 CLINVAR:133159 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df5706b0-9225-4486-a878-0b583e4f2eb7 CLINVAR:133159 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6c36f1c-a4cd-41b3-aba6-02e062a82b95 CLINVAR:133017 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3e7f5398-247c-40af-9eb4-03132ccdfa8d CLINVAR:133017 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 029e76ce-129a-4afb-a04d-f672a4e65011 CLINVAR:1210298 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b76053c4-95c1-47cc-a555-71fc8ebb303c CLINVAR:1210298 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85238c15-2c93-4c9b-ba07-68ff938897cf CLINVAR:1210299 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e211c389-ee26-43c7-bd1c-ac07bf4aa134 CLINVAR:1210299 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 369e635f-f363-4e73-9c64-7f471c336839 CLINVAR:133156 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 81354e07-8ecf-46e8-925b-b91ef9f1035f CLINVAR:133156 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ce65b8a-118f-4d9f-8a9b-798cbfcf370d CLINVAR:978526 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d600a5a-0a16-4a8d-b61f-af47eae309df CLINVAR:978526 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c4b2f9e-489b-4adf-9323-f9da8c1fabc5 CLINVAR:1210300 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2054e7e5-d810-4692-8296-dc0aa58bede0 CLINVAR:1210300 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6109b57e-b67c-4378-ae79-8941a8248a43 CLINVAR:983140 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b1da1e75-256a-447e-8e37-fffcf2da877a CLINVAR:983140 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39d7f297-b03e-41ed-b024-2261686d483d CLINVAR:133104 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4a30f5b-1c2c-4be2-b454-1809fa42affb CLINVAR:133104 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e23eefa1-3364-406b-b3f1-ffba3ec61e49 CLINVAR:1213684 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4a84278-7c52-4299-af33-40533e6b64f9 CLINVAR:1213684 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9299439f-33f6-44b1-80f3-370c1a41a7a4 CLINVAR:1210301 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d46aaa0-d92d-4777-a6d0-a8c4d1609e83 CLINVAR:1210301 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7233f52d-559f-4808-8173-25336fc0bfeb CLINVAR:1210303 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22d55024-33fc-4b26-96dd-84c371e16ffc CLINVAR:1210303 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f087a3e-c536-4d1d-9acf-1c3ee7bd4f82 CLINVAR:1071064 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c1a6fa4-3e6e-4135-8f0b-e3de4bf14e52 CLINVAR:1071064 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 338521dc-c2d6-44eb-8313-1d2f5a6b8cd1 CLINVAR:1210304 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 099124b6-3bbd-4943-9ae4-fa22bac7941c CLINVAR:1210304 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f45a9914-5971-4b39-bc6a-24243f3dd86a CLINVAR:1210302 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a7a7f585-9099-40d2-a1e7-f3306689c592 CLINVAR:1210302 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47d42b2c-8fa3-45a6-8047-c917b98972aa CLINVAR:1210305 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f0d4843-0013-40f7-a3e8-c9bc7eeb6c93 CLINVAR:1210305 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd9652c8-5f6d-486a-b236-429e35bb7fb1 CLINVAR:1210306 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3751bef2-6656-43eb-a92d-7c5620eab6af CLINVAR:1210306 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bb0c0af-d1a1-4d15-b095-d468a8026016 CLINVAR:1213682 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef3cd2a6-e1cc-44e5-b600-c18661fc4f45 CLINVAR:1213682 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3717175f-dea4-46a4-a2ca-b9ad940a7fa1 CLINVAR:1213683 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c1dbac1-03e2-4eda-b5d7-1221a7f4fdba CLINVAR:1213683 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 714f86ce-1336-4a71-8103-832ff979a536 CLINVAR:1210311 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4bb12ea9-f026-42b3-b7c3-9aa2f563e9c6 CLINVAR:1210311 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dec1cfc-6a50-4ba2-a0ab-1b998eaf3347 CLINVAR:1210312 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa5dc33c-b458-4faf-860f-5b21004a8c30 CLINVAR:1210312 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e364984-74bf-446f-9b6e-7a8f76b212be CLINVAR:1210313 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53f28989-fe63-44ef-9aad-3c190fbae31b CLINVAR:1210313 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93dd44fd-0f6f-4a0e-ad6e-dee90c80b2db CLINVAR:1210314 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d89fa8bc-d35b-4cd6-a240-da72cbde6ccf CLINVAR:1210314 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40a652c2-d2d1-4558-bbef-2cd93dd3df3d CLINVAR:1210315 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d70478be-9d7e-416c-a08c-eab14f433312 CLINVAR:1210315 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0da690dd-148a-453c-8396-54340d4527e7 CLINVAR:1004840 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85b87d54-5062-4262-9a79-739c9ab2bee5 CLINVAR:1004840 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06fb6bfa-6fe7-4dd1-b84f-65ff51062ebc CLINVAR:329032 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69b55d7a-25b6-4393-a6f6-7ba63f9daed2 CLINVAR:329032 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 759c387b-1471-4fdc-81f6-606ac32c19fd CLINVAR:329033 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37638a82-e457-48dd-b360-573655be5f9a CLINVAR:329033 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5f85961-055a-411f-b58b-607e99b5c6a4 CLINVAR:1213825 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7b199d5-0d80-4583-a7e7-f099e1c90943 CLINVAR:1213825 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bacedde4-8c44-4693-923a-7e5c8d498c87 CLINVAR:544383 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3fe70567-d458-4490-a9b9-6540c6e9d429 CLINVAR:544383 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4383eeea-c712-40fb-b4e7-0cb075dc8ba2 CLINVAR:1009683 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42473be2-f81b-4e99-8138-0efb6deb477b CLINVAR:1009683 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9193ae5-12cb-4585-9d44-4c7a28175af4 CLINVAR:1213827 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 514856f2-4c50-4acf-9f89-c7f2f58e920b CLINVAR:1213827 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19f8d59d-f97d-4963-a8b8-2a78080dc73b CLINVAR:544517 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4cb1871-4532-42f1-bf93-da542c48b977 CLINVAR:544517 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b04bf305-35b5-4f17-a164-c30da0ae3dac CLINVAR:1213820 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen acbd862b-9ed2-44c2-a798-f0c690bac56d CLINVAR:1213820 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8229269d-ce45-4ff2-bc9b-b3ff3596955d CLINVAR:590571 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 70c08a3e-73b6-4516-a257-46e43c5ddcb0 CLINVAR:590571 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33e7cf02-a64c-42e0-a8ab-7e2792efbb4c CLINVAR:133163 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7e4d67a-b788-412c-be35-06e96f38d496 CLINVAR:133163 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cc134d5-25ea-4fd5-8a89-70a6b7e8b26c CLINVAR:568713 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee59c9de-7c38-4283-8fb7-d805ed0b752e CLINVAR:568713 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dc82f70-1175-437a-9251-1bf8049dcfb8 CLINVAR:590574 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a67221a5-c165-4825-821c-70effe60ebfa CLINVAR:590574 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef17ff54-ca0d-4741-a825-3765f7f874f7 CLINVAR:1213821 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 195270aa-ec26-4b2c-98b6-51fe28a9bf9c CLINVAR:1213821 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc6ac324-3d5d-441d-8a12-47d426b20e9d CLINVAR:133178 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea4918bd-fa04-401a-a1cc-5365c37c36e4 CLINVAR:133178 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b1d0fbe-503e-4c56-881e-8229142541ca CLINVAR:133181 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 387d7273-2584-4e07-b8ce-15c08c8b8859 CLINVAR:133181 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab0fc673-a7cf-418a-a41b-8bc2c72ec690 CLINVAR:133184 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02dc2e73-3a12-4d71-9fd4-71819038b45c CLINVAR:133184 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22d54bf0-3c56-416f-bb2a-719e2f018931 CLINVAR:544455 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ffa48a3-daea-498e-a1c8-f203213a3423 CLINVAR:544455 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4861ad4-6936-4a4c-866f-cda26b90385c CLINVAR:133077 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4f35458-e875-479f-953e-bcd982994f1c CLINVAR:133077 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61a2dee8-cc41-4d62-a9d8-d7ad75da85f1 CLINVAR:133082 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc6b300e-3802-4e41-b559-6cc66a70b14d CLINVAR:133082 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 000f21c4-9c91-4d15-8c0e-69b7963f5e80 CLINVAR:65988 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bba0f2e9-3d6d-4ef0-8ae4-1dc6b3277fbf CLINVAR:65988 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb1aeae4-2e34-4f80-91a7-f388a45fadcf CLINVAR:133087 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6fa7140a-8fca-4988-a7a1-ec6d8ecb8113 CLINVAR:133087 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fa35ef3-55e3-4969-a9f8-8bc02154e0e2 CLINVAR:65955 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8bce12cd-bf20-43cf-b4a5-5420bc804928 CLINVAR:65955 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c8e5bec-9fcf-454a-91b9-751908be5c7a CLINVAR:1213822 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6010ae31-45d7-47a6-907e-c7ea6d6e8b28 CLINVAR:1213822 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33a8e921-25ba-44c1-8a42-4b24acaf37fc CLINVAR:1213823 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac15d922-67dc-4190-8e18-c5cd3c8e397a CLINVAR:1213823 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88b593d9-d267-4f78-9b12-6f5b29886ce4 CLINVAR:133075 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 776d6ddc-d882-4a76-a66e-ba7a6a3d0c85 CLINVAR:133075 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f80ba0b9-d95e-421b-8ccb-03ed3972076f CLINVAR:1213824 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e887cf4f-af15-4b91-8192-25b0dcec15b0 CLINVAR:1213824 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a03ba30-d82e-4b9c-b308-1c18c2961126 CLINVAR:590472 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ec2a76c-3932-4536-950a-abaa29b253c2 CLINVAR:590472 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e634bcde-8c49-41d4-a1dd-6d3fed55e70f CLINVAR:102675 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c26fee7-1fb7-44e0-b5d0-f1ffcf8bff78 CLINVAR:102675 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcf41edf-2cf0-4c37-9912-31a65e76817d CLINVAR:102768 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9416e8e9-9614-46c3-91ec-0408b83d35e8 CLINVAR:102768 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c3f90aa-28a8-4d21-8336-d09bbd2fc800 CLINVAR:1327560 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0b99590-7dcf-4e22-9ba0-685de963fcd3 CLINVAR:1327560 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59b378ab-0ed6-4d84-b335-d19c519cbce9 CAID:CA16021003 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db5bb041-8b33-4251-958c-e4d24f0c1217 CAID:CA16021003 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3cb6d52-ae16-4f60-9a12-64cdb146ecc0 CAID:CA16020936 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8e6607f5-8492-425a-af0c-989aa97eefd1 CAID:CA16020936 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6525a2b9-e44c-4aec-9b14-c8e68494990d CAID:CA16020941 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 272fadec-c90d-4f4a-acfb-544484a7aa44 CAID:CA16020941 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac3779d1-57d7-4b5f-82d2-b6ab5d069d9e CLINVAR:102860 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6a4d0bc-b0f4-4973-93db-b778bda05cc3 CLINVAR:102860 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da62da98-6d9d-4aaf-b4db-b603a120fddb CLINVAR:551270 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a28f17fb-5081-409f-890f-f8b61f0606d4 CLINVAR:551270 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49cfc486-c6f7-48f3-b691-c6a440547496 CLINVAR:1327501 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 952330b6-44ce-4851-8655-57153d80b578 CLINVAR:1327501 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd5c1839-48bd-4843-9add-4abe9e2475f8 CAID:CA891862619 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b700398-2ddb-4ae0-aa4d-6c890244688b CAID:CA891862619 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d08770eb-b058-4803-b4ba-a138becb3ab3 CAID:CA658795288 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 939f53d5-ad8a-4c51-b2a5-6c401f41336b CAID:CA658795288 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0494a58a-fc9d-41b3-be7b-eba0080180e5 CLINVAR:1693552 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e7e3e78-3ae7-42b6-9614-5b53273fae1c CLINVAR:1693552 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e13d5203-8d34-48e0-9f1c-fbf99b5829eb CLINVAR:188806 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a1c978d-74ca-4c14-9fd7-f2f8d67951df CLINVAR:188806 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf17a0ab-4a0d-4a67-a4f7-3cf7cf7c7357 CLINVAR:194154 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b25d0b4-da46-484d-89a1-de3ea7c1af27 CLINVAR:194154 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0319df8-a232-4198-a5ff-90d03b2e7d00 CLINVAR:4029 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8db9f760-161e-4048-93fa-9361198d50e0 CLINVAR:4029 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 659ce5f7-21d8-491e-8cfb-2c7db4577f42 CAID:CA251545 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ffe334d3-0533-4620-9f1f-e7f7661817e9 CAID:CA251545 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 153a7bda-b538-4ccc-83cd-309e6ab0f47a CLINVAR:558612 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42f24945-958e-45a4-82f9-d395d0747bad CLINVAR:558612 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9915391b-7ffe-44ef-a4b5-11dc33f0f8a6 CAID:CA16020968 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e21cdaf2-b6d3-483d-9828-0e644d54154c CAID:CA16020968 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beea267d-3ea0-4021-a299-917222279b84 CAID:CA16020934 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 87c9221a-d884-42db-941f-0b6aa9025dcc CAID:CA16020934 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb075003-198d-4006-a685-39abf28ad8e1 CLINVAR:552488 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe631501-f66d-4b9e-a873-3afc10ec1364 CLINVAR:552488 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d83d29f7-842a-44f7-9748-2d8b638642e9 CLINVAR:660581 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 21dda77e-8721-4ec1-b560-eb37d0132d18 CLINVAR:660581 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15e11fce-20e8-4d77-8dc3-66c9c80760fd CLINVAR:102538 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 209ffb11-5f42-4212-94dc-7eca5b7be238 CLINVAR:102538 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbf0f96a-d51d-4c73-bcea-f6a76ced7a15 CLINVAR:102771 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e9b7fd74-0236-4ea0-89f7-d0732be86a86 CLINVAR:102771 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bf0a697-5465-4b68-93d2-fc40da3efd75 CLINVAR:102773 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d54277eb-15f3-4f6d-b52d-ea1ef38bdcdf CLINVAR:102773 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 133cde47-5c75-456d-a8d6-46a48d12c48f CLINVAR:102775 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 87b2b1c5-8b62-4613-8019-0820439b6fe0 CLINVAR:102775 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8250d0f-5aa1-4e1b-acfc-3733559db8dc CLINVAR:234613 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2b5bbbb-889f-4eef-bab1-234b68e0f10d CLINVAR:234613 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06c2e94e-eb88-4f7a-9045-2691b530fb76 CLINVAR:1292057 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a9c7e33-b5f7-4631-b57f-c5080b4a61d6 CLINVAR:1292057 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caba0f32-3349-4f95-b74d-c9178a29b56f CLINVAR:102861 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a1d07480-d183-4bb0-b624-b3edc9532a00 CLINVAR:102861 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bb5d76b-d248-48b0-84da-98880b4f225d CLINVAR:237950 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 643fa35e-8a43-4972-9ef8-0b4b8b3906bc CLINVAR:237950 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 038d7a9d-b98c-47b0-b088-b66c204e721d CLINVAR:406604 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen acf1d89b-1287-4446-9f7a-5108a18250a2 CLINVAR:406604 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce056eac-7334-4b2f-a8c4-d580ce6a72ac CAID:CA16020837 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f64f204-319d-4ab9-aedc-f2a666486d8a CAID:CA16020837 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 256bc9c8-c75d-4f86-aa00-63d5c1083ffb CLINVAR:557425 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4082c4c5-e042-41df-b43e-d250f3e5f292 CLINVAR:557425 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 511e25bd-e79c-4b64-8e5f-a5670c90bca2 CAID:CA16020844 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96794114-ba6e-4c8f-9732-91f95979c7e0 CAID:CA16020844 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc045b89-df68-4463-ae30-4b0838dcfbb6 CAID:CA16020848 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 881b542e-3e09-4e48-909c-df332d6b19c7 CAID:CA16020848 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e8950d0-9ebc-4aac-bc56-602e4f3a0847 CAID:CA16020914 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e1b9c8a-e803-40ca-b872-2592ed5a80dc CAID:CA16020914 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d37e2c70-a03f-4211-a062-fc694971b802 CAID:CA16020927 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2a4d833d-3cc1-4179-b360-86028b56d9cc CAID:CA16020927 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c14275f1-4ab6-4bba-8753-e89bd9338ca1 CAID:CA16020942 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4613a9a5-8e6a-42e6-80a1-aeb1b1cf71aa CAID:CA16020942 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23b25d05-fd14-4f13-908c-4e53ff25219d CAID:CA16020952 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 871e508c-1627-4e23-8ede-112f2b19dc68 CAID:CA16020952 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe2700c4-73e1-479b-938c-5f0341ed2b6a CLINVAR:862570 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fabf3a4-d47e-4847-b6d4-c7ca7e6ef63b CLINVAR:862570 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffa32fba-4087-42b0-92d6-c4a99cc6947f CLINVAR:551592 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 72ab55e3-94ba-4405-9146-105633f33af5 CLINVAR:551592 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5ce7297-6e68-42c3-9845-4193dc611092 CLINVAR:189059 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e12c96f2-8c4c-4568-ba10-7852d724016d CLINVAR:189059 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d25f11ef-13cb-4da6-a97e-b84895c2c62d CLINVAR:556716 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3dc48fc4-1517-478a-9811-6a6765f19af1 CLINVAR:556716 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a92ad49-f1ab-4594-8547-7b9cb99bec78 CLINVAR:552747 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 521225f3-608a-4776-b0cc-39bcb4a2bb24 CLINVAR:552747 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dcdf861-e5c5-46dd-8450-e420a703058d CLINVAR:554096 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a86be0de-4be3-4802-838e-9eb0ea20ee8c CLINVAR:554096 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a76cddf-cfed-482d-afc5-598504196af7 CLINVAR:550277 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c2ff9f7b-3eea-4dfa-8191-82d889764d4f CLINVAR:550277 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ab606f0-7b91-4afb-983a-43acbb6940c9 CLINVAR:370552 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 70ba0ca8-c4ad-4186-a13a-5f3e158556a4 CLINVAR:370552 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00cb6e04-6196-422c-80a4-295275a6c0e7 CLINVAR:370639 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 834be09f-df58-4143-993c-780280a1d6c3 CLINVAR:370639 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f7c5959-eada-408d-8cbe-149031bef78e CLINVAR:370993 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4eb74521-d504-4422-a24b-fcaf8cf89f3a CLINVAR:370993 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 088c39aa-45d6-4cd4-aa2d-2a971d0bffe1 CLINVAR:555341 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c60fbd2f-3ff5-4881-aa85-e7868eedb2a3 CLINVAR:555341 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 346611d5-fa11-4d9d-86d8-87b8b766ff44 CLINVAR:558571 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3cded392-09de-4984-87ac-1e5a1e0bcca0 CLINVAR:558571 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60fcb46f-2628-4129-94f5-f8b93f0ed8bb CLINVAR:92480 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01feffef-0d77-4ec3-b525-72c063f588b4 CLINVAR:92480 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc32826d-4f92-4a0b-b1b5-2d10c90c5465 CLINVAR:550478 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 81eacbaf-92c6-433b-b5bd-457f7efc9407 CLINVAR:550478 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0d8526b-4d55-41c1-b7a2-53a980591a84 CLINVAR:597005 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab819d94-1a9f-47ed-9e6e-cf5a0230d34d CLINVAR:597005 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af74823a-2b1f-495c-978b-ad82699cdeb4 CLINVAR:42835 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eca9d9e5-c985-46ca-b9fb-ef4873ca692a CLINVAR:42835 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3594d4bb-7a77-43d5-af2a-ee4372dab545 CLINVAR:42840 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 691c17aa-284e-429a-b5b9-b6ed235c098d CLINVAR:42840 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17b6de85-4662-45d9-a4f9-a62e55109dc9 CLINVAR:42860 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0edf92e7-e994-42e5-b5f6-87bc385e4be7 CLINVAR:42860 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ce1db48-8389-441b-8ebd-6c42479d4d70 CLINVAR:42876 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7cacfb6a-bbb5-450a-bd53-6c45741f6fdb CLINVAR:42876 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d004d8f9-32aa-403e-8e23-9b4b919a3ee8 CLINVAR:42948 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e546b702-fabf-46d8-99ea-30eed4852d9d CLINVAR:42948 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67ddf743-a14f-4401-9c61-30984daf910b CLINVAR:42960 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f70647f-aa36-4670-82a8-d7cafbd954f8 CLINVAR:42960 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91cc3e40-cd53-41ff-8b3d-e2a4b84b7f26 CLINVAR:43028 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72c24d54-e3b2-459a-950c-195860479d7a CLINVAR:43028 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65a93863-39fb-48b5-a8ad-855e643aa787 CLINVAR:43064 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 389a6db6-a3f6-451a-a4a3-6eb9c393cfca CLINVAR:43064 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac62bc90-81c4-400b-863a-65c9dfd2b0c1 CLINVAR:161323 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd4aff59-edf4-43d2-829b-26c9a30f5390 CLINVAR:161323 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6476024-ff50-4efe-827c-482749bbe780 CLINVAR:164316 biolink:causes MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 379be30f-7ed7-4eb9-976f-7bde0c3e1c56 CLINVAR:164316 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7005b05-3d20-41bf-ab0d-f059d9bad965 CLINVAR:42926 biolink:causes MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 835c0c1d-93d8-4a45-a3c0-5fe07de6a4f6 CLINVAR:42926 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fb3b654-e942-4def-9485-73b7e8e7c0a6 CLINVAR:164319 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d8e44bb-1a7e-49d3-9e29-91b45c375c55 CLINVAR:164319 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02e3b299-ab8b-4de9-8e7b-544fc4f0be80 CLINVAR:181203 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 462e2993-e9c6-4b00-93f3-dc794d52b22f CLINVAR:181203 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc9127ab-4533-4c5f-9c12-ebd6f7508ede CLINVAR:164381 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 724d7639-5a09-457b-ae8a-3fe8d8c044b0 CLINVAR:164381 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6eb26b1-8adc-454e-9e44-8d517c6c644e CLINVAR:177667 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 476c487a-9b74-4bed-80e7-5fcd24f0f498 CLINVAR:177667 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb97ef88-73f9-45c7-b665-573269c1ed84 CLINVAR:177734 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0cc406b5-8be0-424f-8a24-85e48ca0c479 CLINVAR:177734 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fe835ca-0ad2-4488-9193-078bdd357e9a CLINVAR:177847 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c3ec6c4-95ef-441c-bc00-7c01e0f4d766 CLINVAR:177847 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea4e22f1-35dc-4331-a765-6001759e983a CLINVAR:179272 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ea0c6a2-37af-4067-b420-cda5dbf34d43 CLINVAR:179272 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bdeb261-c646-419c-87d8-051ee06eff98 CLINVAR:180439 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49abe14e-4703-41cc-8824-53aa75eb3f06 CLINVAR:180439 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8178fe6-c0de-44fa-82a5-8194d20fba44 CLINVAR:180441 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen caa0c09f-11e8-4f02-ad61-0f77b8f5b7a1 CLINVAR:180441 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13961215-3c99-4f44-bfba-8807f737a8ac CLINVAR:43097 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ae0a5e8-c426-4216-ad32-a11cf7deddc3 CLINVAR:43097 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89ccd048-924c-4f1f-8d37-332def8fcf97 CLINVAR:180434 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f34e0fe9-4e92-4ebc-a0f1-70357978e6ca CLINVAR:180434 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c331b0c-499b-481a-947d-800bb6b7b93b CAID:CA16020978 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 67d9ba65-c823-433e-ad46-736f848bf5b2 CAID:CA16020978 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f36a603-c7c9-454e-aa60-6e19738b7de6 CLINVAR:549912 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bd768def-a66e-43fd-8dc4-e727024cee77 CLINVAR:549912 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58ce7ced-cd0d-4e10-add1-5170ec12839a CLINVAR:127811 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f63acc0b-044c-47a2-a697-1340b287d497 CLINVAR:127811 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b03fca66-fb43-42c0-9c95-9e592e0d5f60 CLINVAR:973858 biolink:associated_with_increased_likelihood_of MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 42632653-8ede-429d-b566-3252ad073484 CLINVAR:973858 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 882bcda8-8df8-4f62-8b6c-f09769e0c70a CLINVAR:102681 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80dd9aa5-65d1-4ee6-a91b-d8c38efcacfd CLINVAR:102681 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef85a979-3bea-48a4-a068-ee778682030b CLINVAR:9641 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2151298a-2d3d-4b6b-9c32-39c22a82f0df CLINVAR:9641 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1566e2f6-aec0-4cbe-8a7b-3356906a9d0f CLINVAR:1065382 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e927961-ada1-40c1-a254-0efcfcb2c14c CLINVAR:1065382 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a8de1f9-22bf-4234-b701-a1f053866866 CLINVAR:9642 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2314cda6-8417-40cf-98a9-97c8fff46362 CLINVAR:9642 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4204533c-a372-4b08-b060-17eea6d884bc CAID:CA916084430 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0510d821-756d-44a7-a85a-6096ace74e98 CAID:CA916084430 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52088ee0-c63d-4b54-a6aa-cb8a774663f5 CAID:CA916084429 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b42e8bfb-bd00-485a-9788-78f235c6a971 CAID:CA916084429 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 714f9b3d-4015-48bb-8cbd-869ba40eb094 CLINVAR:890601 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83816a04-e082-4aeb-b05c-77badbea1ecf CLINVAR:890601 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e63a724-eead-4029-af8e-fd5824781985 CLINVAR:265901 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d24551ae-9059-4bc3-b88c-554a8721ce5b CLINVAR:265901 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 530f5b1a-8838-4c56-b921-3187c8bf6add CLINVAR:650703 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b95e5135-de38-4cbb-bf2d-e1709d9e7d50 CLINVAR:650703 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d01bdbe-4bc3-4108-be74-7c2373d142d4 CLINVAR:977125 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 734a607d-86e9-4e90-9fa1-581d8124175d CLINVAR:977125 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e6af86f-69c1-45ea-b8f2-461cdf534f0b CLINVAR:953025 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7149ab8-4770-4d7e-9125-7f9fd30d9a69 CLINVAR:953025 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e0b726c-bc84-457e-9fe9-f5f0cd037e2f CLINVAR:2323 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d041cf96-84ec-4c2d-8319-1bb6daada74a CLINVAR:2323 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a2a306c-7a48-46b9-bdbc-d996e20c16a1 CLINVAR:39816 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 065f7b94-fe51-4a7e-bbb4-380a422ba70b CLINVAR:39816 biolink:is_sequence_variant_of HGNC:393 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 916914b8-a1cc-43d9-afdc-bb5f8b73f679 CLINVAR:664963 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38706836-88ff-4ee6-a1af-77d8c71041dd CLINVAR:664963 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5f98e7c-cd93-45b5-831a-48eb3fe328b7 CLINVAR:995382 biolink:associated_with_increased_likelihood_of MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8e8eee18-4969-4450-9df9-07f0985d87b6 CLINVAR:995382 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa9cbe0c-52d2-4c49-ac84-aa21de0c3566 CLINVAR:39808 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8377a635-224b-43f6-a345-b4dfa302f505 CLINVAR:39808 biolink:is_sequence_variant_of HGNC:8980 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca5c76ed-50d4-405b-b011-29a7835ce8e1 CLINVAR:376130 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1c436ca-0295-47fc-a64c-13c44e8d6a70 CLINVAR:376130 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 144c5c53-2069-4661-a679-114a20d70640 CLINVAR:858694 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c85e0d30-98ee-459a-94d7-d91ff48fc06b CLINVAR:858694 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35b79cc1-aa6f-44e8-a0ef-66b83c062611 CLINVAR:376453 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a091f5ea-3cdd-41c2-b314-9c399178d0b9 CLINVAR:376453 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd318a89-abb4-4f70-a761-9193d525b372 CLINVAR:1296990 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd414e14-f7f5-46a9-b64d-bfceed650582 CLINVAR:1296990 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f409b76-84a3-4372-abea-edc6b189bbee CLINVAR:833713 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c74e5faa-5bfb-4fe7-aa17-2a0a9c88ab41 CLINVAR:833713 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8732dd2e-b963-4658-a1c4-88417c25ee6d CLINVAR:374796 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1e64b57-91f7-4ebf-8c21-c6cf21cef2d9 CLINVAR:374796 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d325e5f5-53ff-47cf-a46b-3521d3596d17 CLINVAR:1296992 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83280a57-129c-4c42-bd12-3d6672f083ad CLINVAR:1296992 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6ab81fc-7b04-47b5-a37c-6c5d162c9089 CLINVAR:31944 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bed8080c-8b50-402c-bfd0-fd2cd7faaf2e CLINVAR:31944 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 686a04f0-1e02-4f48-af9e-e5740d385305 CLINVAR:39703 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9721825f-ca5b-4769-86d2-f13f88a98475 CLINVAR:39703 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cabdfa66-4d54-442b-9fde-8219475c6c49 CLINVAR:1296991 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93f6bf61-dd82-42e4-94c7-505aa60e256d CLINVAR:1296991 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47ce5146-fbda-4c95-8045-41577bf6e233 CLINVAR:376476 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08658640-433b-419a-b5fb-b2966447562c CLINVAR:376476 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9197f97-0b13-44b3-b70e-451f1b704236 CLINVAR:156702 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb2b6267-3e61-44dc-a675-82f96aa4c087 CLINVAR:156702 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ead444e4-7756-49b5-ab00-253b74a43943 CLINVAR:376129 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04e560ae-04a0-4dd3-a089-7325cb31c676 CLINVAR:376129 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84219834-65c9-461a-aa35-0ee52c81ad6d CLINVAR:1296997 biolink:associated_with_increased_likelihood_of MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 32555922-a4b1-42d9-9a2a-80b454ec6df7 CLINVAR:1296997 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56f022e8-ea0d-4473-8ac1-269817460de7 CLINVAR:1296994 biolink:genetically_associated_with MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38b521fb-30f6-493b-9c5b-a373b5ad17a0 CLINVAR:1296994 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 117f4710-097b-40dc-8e1e-6c342f27f151 CLINVAR:1296989 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd1949c8-d5f7-4c22-bd96-2722d20c588f CLINVAR:1296989 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d2ac767-4299-4f50-9db9-1c11887adc0a CLINVAR:659938 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6683c394-3cd7-4c5f-a187-abb0c0641ecf CLINVAR:659938 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b23b1145-3903-4fa7-9067-04da4972650d CLINVAR:1296993 biolink:associated_with_increased_likelihood_of MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc95c812-951e-4020-adc5-13ee81d5066c CLINVAR:1296993 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39038f87-02d2-4764-848b-65f4cb72bd1f CLINVAR:1296995 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d0af1a6-59f7-463d-af34-e00a3071f262 CLINVAR:1296995 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 084e55c8-434c-4f1f-a0d3-f7747a3180d1 CLINVAR:156703 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0a325fe-131b-4989-8c0c-0fe84146ce99 CLINVAR:156703 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efefa0a5-f6a3-42b2-bf2b-7900b6e0d680 CLINVAR:1296996 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99870cf6-eac4-4646-90a9-1273de1ab90d CLINVAR:1296996 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd861ef7-33ec-44de-9017-9d550946f419 CLINVAR:417723 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 41f6823f-2bcb-4f5b-b6a5-80252ee82bdf CLINVAR:417723 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb4c1c30-9a83-40a0-8ecd-103c8e4ad43f CLINVAR:13652 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a17d4101-f77d-438b-ae29-e96e7dbcbbb0 CLINVAR:13652 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 470e6654-50c8-483a-92d4-a3232ab1d82d CLINVAR:693058 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87e48bc4-0230-42f3-93e0-c7c642cb2b8e CLINVAR:693058 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fbaf751-fb6b-4ea4-8d62-af85c5e2d543 CLINVAR:1172526 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d8b0b5d-0d43-4e5c-bc10-84a75ebfe290 CLINVAR:1172526 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c68fc7b-e8f1-4c5b-8abd-c9a2bb4bda43 CLINVAR:658833 biolink:genetically_associated_with MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84c136c8-899c-49ac-9586-aff1ea459339 CLINVAR:658833 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0f46b25-8e23-481f-a720-223910e7a5b0 CLINVAR:329444 biolink:genetically_associated_with MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9c8dad1-229d-46ac-adc0-5da4e4b1d3a7 CLINVAR:329444 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a7eb9ce-f927-4ec9-aa45-e52d50f703c7 CLINVAR:329442 biolink:genetically_associated_with MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6f40d1b-8456-4ce2-9777-c06c9ab00e4c CLINVAR:329442 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff0b02d4-b29e-448b-88af-077835524ca6 CLINVAR:214936 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 728fe1ed-6130-4995-83d1-f7c96354c25d CLINVAR:214936 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3d44126-2bb4-46d1-b023-127d1fe5bfea CLINVAR:214938 biolink:associated_with_increased_likelihood_of MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e240dd77-3f30-408c-ac55-70cb5e16501a CLINVAR:214938 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e86a1c5-71d5-483f-9b06-9c02fca40c24 CLINVAR:972803 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1fdff7c-078e-4ce1-a2b8-93ba33548414 CLINVAR:972803 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f31c2355-7d37-4c5f-9e1e-c4ee9e1dd0d2 CLINVAR:1327503 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 62e10100-289a-4510-a3e3-6ad026d7a732 CLINVAR:1327503 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d7deef6-24e6-44cc-aceb-3a5fb5674a90 CLINVAR:1327504 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8a7ec47-c0fc-41ae-8a61-fc306af42d0a CLINVAR:1327504 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a40ce71-438b-4ca6-a7e7-ec0deffe0b22 CLINVAR:371481 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76593bcd-4796-4358-8e5d-1fcb8245666a CLINVAR:371481 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77829f14-d040-44e1-bc75-55b16c327fec CLINVAR:551558 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c2bf4292-d6f1-4afe-ac9f-21a415261308 CLINVAR:551558 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cce471d-6b69-4e06-a407-caf758091c51 CLINVAR:9714 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f66f9804-ab0d-4dca-aa6e-3a1e376759b3 CLINVAR:9714 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1880fae-5483-4e9c-8acc-db934866e5ae CLINVAR:555153 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dbe87457-2605-4867-ba06-6d57d98f80e4 CLINVAR:555153 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4160e32c-128c-4115-b6b2-084a7b41cbca CLINVAR:558700 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 136c75c1-87af-4665-8b9f-52d030ac5143 CLINVAR:558700 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8761f37-cb5c-46a0-8e6c-848485445a5f CLINVAR:956209 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37fc1863-8f66-40bd-b078-8c32bb75a612 CLINVAR:956209 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d17a6595-c681-4ce9-8af7-1f31d5db3643 CLINVAR:9702 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc4de674-122c-4ae7-af76-e130479cbfd8 CLINVAR:9702 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38241eab-aec9-4ee1-a5a3-0c44b4263792 CLINVAR:689930 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27c69294-0e73-482a-99fd-42095b920065 CLINVAR:689930 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57cce360-440b-4914-a0a4-ee161d194cb6 CLINVAR:265160 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2bc3f264-658f-4460-9206-851686b5651f CLINVAR:265160 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8f6cac6-b7b6-46cd-9173-a8d3316fdacc CLINVAR:1327591 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aaa38ca3-bfb1-4094-b76f-4d6596442769 CLINVAR:1327591 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f30a70f-f405-4a9a-9358-37b98a7b5b3a CLINVAR:1327600 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be76a772-d394-46cf-b4ec-2c379dcf2d9e CLINVAR:1327600 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61687e5a-6562-4780-b67d-c6c11842702f CAID:CA386959939 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8af9aa96-2e86-4c04-a0a1-44bd070f853b CAID:CA386959939 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a704f989-4784-4c69-967e-7061b0c647bf CLINVAR:1327616 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 89cfdba0-de99-41ad-8691-d55cb8446ffc CLINVAR:1327616 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08f617e1-bb5c-4fd1-b163-c0f3dc0355b2 CAID:CA386959900 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6fbe8c2e-0d4a-40ab-8448-bec154754e83 CAID:CA386959900 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16c22d98-9a05-466a-9d11-1ec2de30152c CLINVAR:586798 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0650040-9a8d-4d8c-b5eb-ba73063ab7d7 CLINVAR:586798 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78f0ab47-93f0-4099-ad95-cc8c2c27a69d CAID:CA386967824 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0cefb7fc-9b76-464d-a89f-a03e75a4fbda CAID:CA386967824 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe7e86e6-b6ee-451e-a0fd-5bda216d3cec CLINVAR:617646 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e4e4e28-bc22-44f0-b628-d87f81e6548f CLINVAR:617646 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8eccdb6e-8f09-40fc-a987-e939b2379bb6 CLINVAR:1327622 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d22714a-0eac-4c22-9701-ed5cb7247d00 CLINVAR:1327622 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 256e3c71-7279-4565-92bc-019a35825e7e CLINVAR:1327592 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen abd4922b-3650-47cd-be06-9a043c398264 CLINVAR:1327592 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4763eabd-98a2-4472-8cb2-33eb0386011d CLINVAR:1327593 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e427471e-e4ce-468a-a548-30f4a5ae12b5 CLINVAR:1327593 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3415836b-92ba-4635-8b3f-56a659232f43 CLINVAR:14930 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc22c24c-7185-4d0b-b342-8485d40b0552 CLINVAR:14930 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a23ce14b-30fe-4eef-abc5-15b755adf29d CLINVAR:1327594 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0bcea917-42f1-46b4-b57c-303511c41707 CLINVAR:1327594 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 017b72bf-3e60-48ab-b8ed-0df2fdbad027 CLINVAR:1327595 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 552b7c7d-4261-4cbf-944b-e59f693314e0 CLINVAR:1327595 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e023a929-bd1c-464e-8d70-a1076d6df599 CAID:CA386965858 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d12365f9-711c-4d38-b0cc-a09779912abd CAID:CA386965858 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7092f686-bc3e-4e96-a4c8-1c59a1702518 CLINVAR:1327597 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ad811cab-be7b-49e2-a0ab-20384feb00fc CLINVAR:1327597 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11fa5aed-d83a-4452-9e8e-01cb3a1a03d1 CLINVAR:1327598 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a5db4456-7292-4cea-9923-428ec32daab8 CLINVAR:1327598 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a02d2e06-9e9d-46d4-be2d-3dcfebe2439f CLINVAR:1327599 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6adb7a51-dfbe-4426-88f0-6f8a3633ebdd CLINVAR:1327599 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f8cb89e-3972-4959-8d68-2d20772c8c4d CLINVAR:1033090 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4452d31e-ef52-4820-a875-0bf4a099c628 CLINVAR:1033090 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6426cfe2-b1ee-4e02-9c86-4d29a7c2ed0f CAID:CA244520175 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fcf46671-76bc-4733-bf53-f87ddc5d3c53 CAID:CA244520175 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30a4880e-f51f-49df-9d1b-6d5383bb4a4a CLINVAR:1327602 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ff9ac8f-4995-4875-aa91-d358e907fb18 CLINVAR:1327602 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c936eedf-02e3-43d5-9062-7831dc940d8c CLINVAR:447488 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4445abfd-5641-41b0-bbdc-dc9e827f9a36 CLINVAR:447488 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86928397-89ac-4e87-836e-90af92eb625e CLINVAR:14943 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d7dd279-1cb0-4e3a-a21f-4fdcd2aa7373 CLINVAR:14943 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57faa6f1-19b7-4fa3-9fe5-08c7cc7d58a0 CLINVAR:14933 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49c4e903-4dbc-4bcb-be71-9cac8d075cf0 CLINVAR:14933 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14598a66-9bd5-4c4c-9d8b-6fe2a715b39c CLINVAR:562373 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3999da19-027e-46db-98be-ba899018a9a6 CLINVAR:562373 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0db62075-b2b6-41c4-9d16-36d771f5d564 CLINVAR:1327603 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f6d95b1-6aac-440b-a681-70e3c2f17e0d CLINVAR:1327603 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad9c36e5-208d-412c-ae3e-5e4507a57387 CLINVAR:994547 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 91e022dd-332d-4572-9fd8-f958160828fa CLINVAR:994547 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f93a3cbb-fe29-4c00-b282-1fccc50abfb2 CLINVAR:484614 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ffab9c2d-dcf6-4414-b773-5290b1c8c2da CLINVAR:484614 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dfd29c7-a388-4b5a-9acd-4478b4250521 CLINVAR:9689 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0bbe12ff-b4fb-4732-b838-b58575a3fd07 CLINVAR:9689 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen def25a50-f6a5-4612-8a7e-f13b89869290 CLINVAR:9579 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 482d20aa-3349-41c6-b8ce-c4505a4d6fbe CLINVAR:9579 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06c2fd7e-12a4-4ef0-be2b-8ae8631ebc14 CLINVAR:590492 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ff822c0-51f2-4929-a887-641d0215589e CLINVAR:590492 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85466cb6-230f-476d-a971-777ca6eb6339 CLINVAR:133093 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f02cb6d1-b5fe-4060-9976-e63f2b63c998 CLINVAR:133093 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a431003c-9371-4bbc-8064-1c2d603d947c CAID:CA16020828 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df9527f3-c348-4a6d-becc-a3e11832ab8e CAID:CA16020828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e019294-e07b-45d3-b534-5bfd5b199d13 CLINVAR:1327604 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cb77100d-d0ae-4382-a845-57333e6b51aa CLINVAR:1327604 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 864b05e8-4227-4941-a6fd-e0a9b22a371d CLINVAR:1327605 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c807ab9-011e-4ceb-a4e2-f76de61b1171 CLINVAR:1327605 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22d78de3-625d-4790-9a6a-0344803085fe CAID:CA2023554331 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 448c55c3-44d9-4633-ae53-854e6df68676 CAID:CA2023554331 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7b58c38-5497-4c33-a672-bebf8e8a2fd5 CLINVAR:1327608 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a81819c4-13db-4230-b80a-4dbfe8de059f CLINVAR:1327608 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a138fd8-6b8e-41aa-ac9d-eb95f8d40df0 CLINVAR:1327609 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd912387-30de-4b21-99c9-c187544726ad CLINVAR:1327609 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cb30428-d0f2-4f05-a9e3-6a3c7f02d51c CLINVAR:1327610 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22b49361-d328-45c8-b798-1d5e2cac589a CLINVAR:1327610 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f68f482b-1ca2-4dff-a8e9-0e43a11fe6af CLINVAR:703089 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 851a20e3-99e9-4ffb-93ec-2628025a2b91 CLINVAR:703089 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f81d237-5e6c-4a68-9fd7-67f754bdb4b3 CLINVAR:102539 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cb286564-4f3f-4557-ac91-516c9bc449b2 CLINVAR:102539 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c432362-a0ea-4308-bf2a-b1a59d1f17b8 CAID:CA16020982 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 543c4fd3-65b3-4ae6-8a9d-d1ab9161efa3 CAID:CA16020982 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4109c78-1bfe-4070-8653-20d6aeec054e CAID:CA16020983 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 66d28287-e255-4d57-8011-b365e12a899d CAID:CA16020983 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80457878-56ff-4440-b4ed-743d594e8a24 CAID:CA16020990 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7eeaf59-cf17-4d12-b723-52afa1b02f47 CAID:CA16020990 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a7e8542-56b4-4993-9502-299b1f548bdf CLINVAR:962987 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e1ede24-52ae-4e69-88ac-45499606d729 CLINVAR:962987 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42dfbe09-aae2-4037-9a3d-cd488eaa250c CAID:CA6748773 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ff53209-6cb2-4559-8cd0-b28db066fab3 CAID:CA6748773 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6a9045a-c75f-4869-9de9-2cdecb511c18 CLINVAR:102528 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c1d70104-c398-4a76-94db-76be1b271341 CLINVAR:102528 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 256a645a-ef5d-418d-9b7e-39d4f8713947 CLINVAR:102545 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 13472e99-2b0c-4a4c-a69a-d38e90167579 CLINVAR:102545 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 937415bf-ea54-45fd-a2b3-39804dad951a CLINVAR:102546 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 54668903-7173-4a17-b0f2-186f5a60bf39 CLINVAR:102546 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83a0f17b-32fa-4c1e-9573-fc2a35949a91 CLINVAR:281052 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8051e195-4fb1-46e9-a263-ced9786e6d8d CLINVAR:281052 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 443b8b23-a398-448f-8afc-afd060807932 CLINVAR:283219 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09b5e6a1-9860-4b95-91d9-0904020a173d CLINVAR:283219 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e95b4f5-b2cf-49f8-ac34-24c472a41936 CLINVAR:640911 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a547f93e-44ae-4a63-8ed6-6ce469b34797 CLINVAR:640911 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a71cf96-7bc1-4e52-8f0f-f3b39e60e1f3 CAID:CA401363854 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f2e6c6f6-2b0c-4dc7-912f-df8e4ebe73aa CAID:CA401363854 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c8ab5d3-e546-4201-90e4-7216003c986b CLINVAR:370637 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfa5de7d-c089-4ece-8a02-869334f013c9 CLINVAR:370637 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98b8c4e7-b6ff-4e30-a1ea-eae7f366a50a CLINVAR:181210 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29782091-f043-405e-a8c3-4190ed04a59d CLINVAR:181210 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7eee4982-d542-42bd-8f36-6aa46e18965f CLINVAR:181236 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7da9abf-3650-4c48-beec-e087af68f62c CLINVAR:181236 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3568f6b2-6ca9-4ff9-923c-44efdc2f05ef CLINVAR:181278 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd51b49b-d930-42dc-9e23-cd37bcfce41b CLINVAR:181278 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d47eeea-6508-4182-a36b-1db2563de2f3 CLINVAR:181286 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bbb431b4-2fbc-43d3-a547-3a92a066e9c1 CLINVAR:181286 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 248a0744-2bf8-432c-832c-5befaa9919ac CLINVAR:181293 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a072e43c-f9b7-4d08-9d28-5b5510355302 CLINVAR:181293 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 713a2471-ca90-4cca-99d1-1518c7faf58d CLINVAR:181299 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a79abdc5-566c-4d0b-bd86-6026a520164e CLINVAR:181299 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd48085f-28a8-4cbf-b9b9-a1e3590b2cf6 CLINVAR:181300 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f9594fb-a79e-478a-b56e-bf2cc04412d1 CLINVAR:181300 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fd44db9-36eb-4886-9561-2375f8693153 CLINVAR:181310 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f51cd4a4-9787-4226-9d48-4dba9f363d37 CLINVAR:181310 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7dbdc19-c4a0-4bfb-be98-80aabfe9bc93 CLINVAR:181312 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1dd9d9c-da00-4139-98fd-f992bb0b6561 CLINVAR:181312 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e86979c2-119a-44c5-923e-64e410c9c786 CLINVAR:181315 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34641a42-420e-4753-a7ab-e0817b12e589 CLINVAR:181315 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d158b09-791e-4496-90ae-89077a296ac0 CLINVAR:181330 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1168165b-fc39-4f63-a160-a50baebe475e CLINVAR:181330 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a269318a-bb4a-411e-ab79-4802d0350267 CLINVAR:36831 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 141f2d36-ed18-406c-958e-c5e23b26f2be CLINVAR:36831 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd14749b-228d-4c84-bc53-05041cc0d099 CLINVAR:1327611 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 609f2622-034f-41d5-9e21-dd190874b2f3 CLINVAR:1327611 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ebf6c33-f0cb-4696-a76e-1978520b23c6 CLINVAR:1327612 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 921527d7-052b-4f73-8fd6-b174a727e988 CLINVAR:1327612 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86331d6f-247e-4f7d-a401-1ad314d9977b CLINVAR:1327613 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d963d78-da17-4bcc-a0ff-6430936eae97 CLINVAR:1327613 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c5484f1-505a-4f9d-a525-ec87dce3313e CLINVAR:1327614 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 256debb0-b838-41ad-bbac-f78acf6f5a7f CLINVAR:1327614 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7f5ef09-c107-4212-b236-3bb44e3e9c18 CLINVAR:1327615 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ae84ef7e-34ff-44bb-b027-16f504809927 CLINVAR:1327615 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15f543a2-8400-4ce9-b52e-8224a205dea9 CLINVAR:1327617 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db647d59-4dad-4c64-afdd-9532adf2b533 CLINVAR:1327617 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ff1d7a5-0be0-408a-b825-af3d0c886fae CLINVAR:1327618 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4847604f-75dc-4e39-8e5f-1b8988ec4bb6 CLINVAR:1327618 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3739405-a2bf-4003-969a-21fe74e4a4d2 CLINVAR:1327619 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 819ca547-04de-4892-99c1-145bc404c012 CLINVAR:1327619 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ebaf2d7-f872-4349-becd-8a8d5245ef03 CLINVAR:689846 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e87f5ef-ad8a-4bed-b58e-35a66e95fa3e CLINVAR:689846 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37bed642-fa4d-441d-984e-f6b90a59cb6c CLINVAR:693460 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 007fca4e-cbc6-4d23-a641-dadd8000b0a6 CLINVAR:693460 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c33ac6d4-53e0-4bba-ab90-66fddc64984c CLINVAR:692343 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ca2ae48-3848-48ba-9df0-d12d0eb0c1fa CLINVAR:692343 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5d30af6-b6e4-437f-8fb0-e9a5a6aede4d CLINVAR:1328511 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa678436-2cd0-4a5d-a79b-c972b6e34e21 CLINVAR:1328511 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35b7b19e-7c9b-4311-a861-c459eb527f5d CLINVAR:1328512 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b2cb404-5705-461c-a642-724766f46c3d CLINVAR:1328512 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c704fcd8-89fc-41f7-b8fe-93a681363de8 CLINVAR:693828 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df939bc9-77fa-4e27-b41f-1e0c51cf1599 CLINVAR:693828 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b29951c2-5cdb-4fd4-b1f5-b5f1665cdbc5 CLINVAR:689941 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1cb75ec5-b8b7-4928-9bd6-beff6a889e56 CLINVAR:689941 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13b8ab0e-a292-41b1-9e26-14d63387dfe9 CLINVAR:102493 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d42878d0-6c38-4422-9816-4b175ad136b2 CLINVAR:102493 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec32792b-4ae1-4844-a3e7-3fab53f4493e CLINVAR:102487 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09057a1d-e5e3-42e1-9a65-118af77033eb CLINVAR:102487 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d89cba0-4336-40c9-bce6-fbb6aecd3409 CLINVAR:690123 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e2e549d-8dd8-4ad6-adbc-46a390b301c9 CLINVAR:690123 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2861b1bf-ffac-49b6-a086-481f07cc1689 CLINVAR:102585 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 260ef880-39de-4f3f-a7bd-b63f08602f04 CLINVAR:102585 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d61c6f4e-606e-4706-92f6-77669a39b06e CLINVAR:102611 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90224109-6c97-47e9-9fe7-24029e483d7f CLINVAR:102611 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 548aa7dc-dbaf-437d-b97e-1c2935b0e497 CLINVAR:102776 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86594dda-fe7a-41c3-b4d3-57293fcc710b CLINVAR:102776 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0254796-6653-4576-84f8-0a325d86a7a3 CLINVAR:102785 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f697273-1268-41b5-a38c-ceb44ddc7304 CLINVAR:102785 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eb0d297-adb3-4896-a67f-3cca0099a104 CAID:CA16020954 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3edb6474-5d2f-459e-b913-9a78a396ef13 CAID:CA16020954 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a28cc5cd-efd6-48e4-aefe-2d6f44d9eaa0 CLINVAR:370982 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6b5562e-d46b-4f05-be22-ed1d36a9af70 CLINVAR:370982 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b86458a-aba7-46e7-8d4e-5dce61410402 CLINVAR:102748 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36d1019c-7a2c-41f0-91dd-f0433176ded6 CLINVAR:102748 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6828c507-c0b2-4ed4-8093-4a517b2d632f CLINVAR:102807 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3661324a-e7a2-4596-a916-ef95d61affb4 CLINVAR:102807 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1888cf3b-2672-49ff-98c2-a2a4ed3039e6 CLINVAR:133186 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef12ab24-dff2-4097-971c-b525a43711cd CLINVAR:133186 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd634ab0-f279-4c61-be4c-bec7348f592c CLINVAR:133187 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7144c7fd-33a7-465e-9f57-1e7482d04f20 CLINVAR:133187 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51c4874d-34e9-45de-9b23-7b05e1979bec CLINVAR:1330355 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e1d58cd-a32f-44c3-b853-a873e74d9c72 CLINVAR:1330355 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 542566f8-ffea-4ba3-94a6-e2d9e10c1b62 CLINVAR:582065 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5a754dd-39e0-4ee0-9773-0beab5b56fc5 CLINVAR:582065 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01e69694-a10d-40c6-bd87-0af4eaf1cb86 CLINVAR:161379 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6351bf1b-1cf8-44ef-b985-bf6bc16b7fcf CLINVAR:161379 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2ea6689-4460-4812-a536-a221b53f9b42 CLINVAR:133194 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 608096b4-78c8-4c92-a2c5-23919f24f7fa CLINVAR:133194 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 884070d3-afed-451a-8aff-7260aca656b4 CLINVAR:133195 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b82b9fc6-6e3d-4f17-a28e-9d9f19e59ff2 CLINVAR:133195 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d882a20-a116-441a-983b-57846f2ba07a CLINVAR:133196 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9716c939-af62-4cc8-a094-c6f02bec4bcc CLINVAR:133196 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0617c71d-e9cc-44c3-9b55-fd1c65004e27 CLINVAR:133197 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 481a17bd-5a19-4925-9f6d-c3bfa4a47c3d CLINVAR:133197 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fee7c741-cb4d-4008-8a2b-45a577dcab05 CLINVAR:133198 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 223adc9d-b8f0-4473-a7ca-ec2ab45b45cb CLINVAR:133198 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e847945-ebd6-4f89-8d65-25b87e0c5809 CLINVAR:133201 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1d575cf-a6ba-4820-8325-21218197da16 CLINVAR:133201 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c918d79a-6d7c-4011-a1da-1734e4510e44 CLINVAR:133208 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14717e9d-09cd-4d5a-a6ab-d5fd2447f3be CLINVAR:133208 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe1d6b19-66de-4211-88e6-7f0b8e0db2b1 CLINVAR:1056224 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 273c1216-cf67-4992-b366-9b20ca27b576 CLINVAR:1056224 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c416d84f-a2c7-4c1d-adfd-c8222ece342f CLINVAR:133211 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e485a9b4-cbd5-4fe2-b2ef-48d238468ff9 CLINVAR:133211 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25d7da78-604d-4732-a755-1d2e81fc7371 CLINVAR:93291 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 636a4218-de56-434f-be70-9811a20d208e CLINVAR:93291 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e882d29-2155-4058-b9ef-f2813ef43dac CLINVAR:654130 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 30eede8c-4f97-4033-a33a-375827aab490 CLINVAR:654130 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 970c1fe2-8e80-4319-99fe-a3e23bd5fcfe CLINVAR:1330356 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 826e4085-6762-4af3-8eae-7fb0bc744078 CLINVAR:1330356 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 265aa858-4281-4acb-86d6-0cf33254c387 CLINVAR:133212 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d29a0a74-984b-4725-ad53-fd1fe2255635 CLINVAR:133212 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d48bf08-c3d1-4553-9c1e-c115249268b4 CLINVAR:1330358 biolink:causes MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6cde4854-538e-4ccc-92d0-b223f48c9930 CLINVAR:1330358 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ec71f87-e989-4a68-92d2-d47e8d7a82ea CLINVAR:872586 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 454da0f2-2dd2-485c-aa63-4bf4b280bb4e CLINVAR:872586 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1324b8f3-885c-4756-bd72-cf7f17102bee CLINVAR:1330359 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47150830-380f-47a2-9aef-6a71666da7d5 CLINVAR:1330359 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 499e10ff-c769-4281-94e6-27ff358f4fbe CLINVAR:133217 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d63f5a7-1ee9-4e04-9aee-6d34184fa314 CLINVAR:133217 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e019591-2a8e-4889-86ca-8817faa24a3b CLINVAR:1308515 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d728e96-09ad-4e2e-80af-7a49caebc19e CLINVAR:1308515 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47c07163-87ab-48d4-9959-c6f5e0aebe0e CLINVAR:133218 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91818023-77d0-4d90-8a9a-6bd0e6188c11 CLINVAR:133218 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77e7bc53-4e1f-44b1-a2cd-6f2aa73ff8b9 CLINVAR:133219 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 26c2c0ea-10b1-49de-bbfc-8a80d0bcff39 CLINVAR:133219 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70e029b6-0561-460f-9174-8825a0f7e1cc CLINVAR:133220 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7bcd7dac-4459-4596-a71a-646cdff9876d CLINVAR:133220 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01da5762-c646-4f56-83f9-bf9a3cdba339 CLINVAR:133221 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 566de838-9396-46b4-85eb-d40d018bc0ba CLINVAR:133221 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15823d62-c0c5-44b6-9873-4124f5db8dbb CLINVAR:133061 biolink:causes MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6ebdb89-58b8-493d-819c-647799715a81 CLINVAR:133061 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b35189c1-07f4-4774-8eef-06a86cf05d80 CLINVAR:133160 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10ffa065-bace-45d7-bbce-04c490438901 CLINVAR:133160 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1a2f5d2-4de5-4f9b-84f5-342e74d2dfd1 CLINVAR:133226 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 685de5f6-b8df-4547-8f91-7ff29e499f64 CLINVAR:133226 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebcce116-dbda-4773-b0f3-060bd8c34c65 CLINVAR:1330360 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a73593f-d2b3-4375-ae55-7b54d3cc6b2c CLINVAR:1330360 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f93bafa-7332-4b37-a115-7049f2bf65ed CLINVAR:133230 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29bfa8df-8e05-422f-b7a7-907c0e45e89b CLINVAR:133230 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cae9b0f-1994-456a-bf76-aa865fcb4c1d CLINVAR:133232 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af60f464-e1fd-441a-9def-f2d4f4a2cae0 CLINVAR:133232 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac7317b0-1ed3-46e9-af0d-fa4c36d923d3 CLINVAR:1330361 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ad97532-15a3-4744-96b9-2b2e3334d3b5 CLINVAR:1330361 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54c95962-5634-4fa0-b872-bbf0aba9ff84 CLINVAR:1330362 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cacd0cf7-9a24-4df3-9c84-7cf62bd187ea CLINVAR:1330362 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f9496e7-7c8d-417c-b9a1-c4f69a4f8d07 CLINVAR:1330363 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c06ccaf3-cae7-427d-9dcd-8d8ed0bd52df CLINVAR:1330363 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0751e9b-4d51-4be2-88c0-cd5e30e73b01 CLINVAR:544516 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4de2d84-883e-48a8-8ff1-c008264818fc CLINVAR:544516 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce661185-7c06-497f-aaea-e5c575888aeb CLINVAR:1330364 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b0e9fd78-b72c-4245-959e-53f95d7d7a74 CLINVAR:1330364 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c346c484-cd65-4f00-8a64-719fa31eb614 CLINVAR:133241 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a4038e7-89dc-48a8-bfce-56bde66d669f CLINVAR:133241 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a9e6ef0-6911-43f7-8537-d1ab65d90455 CLINVAR:329090 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 488c50fb-c5ce-40f8-9127-e0013ec275fc CLINVAR:329090 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ea2a18a-d7a1-40b9-970e-8a7dc9a3a7b2 CLINVAR:1330365 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b1d5700-5f60-421f-9fc0-33349cd3d522 CLINVAR:1330365 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56c6af71-543a-4fe5-8395-a1ee212202b9 CLINVAR:1010267 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eeba8439-d0a6-4623-8a70-c08e89412516 CLINVAR:1010267 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 439d3f88-90a5-428b-8915-deffd3615166 CLINVAR:1330366 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9257b3df-fc80-483a-ae72-e6dcb6e22e08 CLINVAR:1330366 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1603549e-3df4-4029-b19e-52221dc5e98a CLINVAR:1330367 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9406adcc-fb94-4463-9cc1-7248d70bff96 CLINVAR:1330367 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eac1634f-883c-4803-9f4a-c5fc13279db5 CLINVAR:1303276 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed3ed2d0-db42-46d2-90f3-c71f711205a2 CLINVAR:1303276 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cfa8c00-e57c-4fa9-9321-997082aa482e CLINVAR:1330368 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e008fcb3-0b46-4134-84f9-71b8a1ba4762 CLINVAR:1330368 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c013d8ff-9406-4107-a272-f11100bc742f CLINVAR:1330369 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68e4dddc-fe62-4d05-b6a4-ee634508333f CLINVAR:1330369 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65d1dd69-ff48-4b84-9ac4-045f123ed394 CLINVAR:133070 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4617a25e-7c42-4b41-8957-e46a9fb432f5 CLINVAR:133070 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9604c3f8-eef4-40dc-822d-438c38facc50 CLINVAR:590630 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99d1dad5-63cf-4177-b83e-87cd92ed93f3 CLINVAR:590630 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfa92747-d946-4923-a54b-7ffad768ec64 CLINVAR:429750 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 20c49031-07d7-44ee-b7d9-d6cff8fee042 CLINVAR:429750 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f1e785d-a5a7-4ed8-b489-725c16b6600b CAID:CA400029525 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen efb8b9b0-63b2-48ab-9070-f2d0ff4faab5 CAID:CA400029525 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b63ee048-d4bc-4096-b0d5-2095245931cf CAID:CA399790170 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b984cbea-77f6-4f26-b5f6-6ff45cdbdbce CAID:CA399790170 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f28dcb8-daf3-4d03-8a89-93629e103d4a CAID:CA915940727 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db96525a-869f-4951-9367-f0c51a32dfc3 CAID:CA915940727 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5942d9f-7c75-433e-b2e8-4f3bc4d38b24 CAID:CA400029121 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fdcdb874-6eb8-40e9-a17a-8ae844711a6f CAID:CA400029121 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8788b8f2-cf43-4efc-9318-f7fd19370105 CAID:CA400025209 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b93be70-85ee-4cc3-a42d-08d64216625f CAID:CA400025209 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9da707f9-4070-46d2-9d32-7ef7d47bef46 CAID:CA915940728 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c8801ac-d04d-4446-9b94-a250015b3fc3 CAID:CA915940728 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54c84a1c-5f2e-4c95-82f4-f86a9a2cb8e3 CLINVAR:695455 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62557f6d-25a4-4944-830b-3318f988170c CLINVAR:695455 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05d55807-2e10-49d6-979a-a68f524f7d93 CAID:CA2499306877 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee54be98-8616-4773-963c-441c6306e3eb CAID:CA2499306877 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed79b8a4-819d-47d3-a933-798c6b3cd7ab CAID:CA399802112 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95495350-d791-4b94-a4f2-5221edb2fa5e CAID:CA399802112 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31906905-7f55-4e51-a7ac-de36cda74c81 CLINVAR:1330311 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce603ccd-39a8-402c-9ddf-0a57c4ebbd49 CLINVAR:1330311 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6d9ac33-5e2d-4799-92f7-756b5c3d87e1 CAID:CA915940726 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d1ff6cf-3f2a-45eb-9103-e9a18d06ce6b CAID:CA915940726 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63ef3a6e-dd71-42df-a865-0ab29db99c83 CLINVAR:13565 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c36ccc6-d449-4e4c-badb-3515ba6d5bc6 CLINVAR:13565 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2d8a442-71f3-44d1-992f-29607b9c4632 CAID:CA626684825 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39158f41-0834-44e9-ba49-337e98734207 CAID:CA626684825 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be667cf0-c3b7-41c0-9eb0-cbb4ce43c717 CAID:CA400028591 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa20a2a4-8c91-4bff-82db-edddba961ebe CAID:CA400028591 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df7a9816-41a2-447e-8cfd-6b2c0714d808 CAID:CA915940291 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6a58ee9-6e76-4a49-822a-ce2a33db16a1 CAID:CA915940291 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d366da7-24a5-4a14-b788-e29ae2bcedef CAID:CA913012619 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d048d0c-b6fd-43f9-bece-50747964778b CAID:CA913012619 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2a48104-6a02-4208-9b36-ac3f693bef2b CAID:CA399805570 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2f04ff92-ee32-43b9-80eb-14c8e774220f CAID:CA399805570 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a05332ec-254a-4442-962b-b26a4406f215 CAID:CA399802403 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa8ecdfd-fa8d-468f-bed1-3af3e51b9ac5 CAID:CA399802403 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85340e1b-0d9c-47f9-b4e8-f8f35f4c0405 CAID:CA923726222 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5400f5c0-12e9-4991-ad18-4c48ec9ee73f CAID:CA923726222 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29d027a2-60f6-4ef3-8d0a-6a4c07973a6a CAID:CA923726221 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d1dff75-d529-438b-8372-20b922b2bf7f CAID:CA923726221 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 482afc56-8ea0-4eab-8748-63b986330e32 CAID:CA915940256 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08ed1163-f6ca-40a7-833e-79290667ae02 CAID:CA915940256 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 280fedbe-5625-42a5-8ab1-9a011037ba17 CAID:CA915940255 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b68bb3f9-6611-4c79-9137-cdc2e5a27872 CAID:CA915940255 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73c97790-3dc2-44ef-981d-fc76e02db280 CAID:CA400032429 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6fbef060-d89e-40d3-a481-8b1720e88a73 CAID:CA400032429 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cb8a205-ce1b-4732-97aa-b7d7fec98b90 CLINVAR:13556 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12b2447f-0a4c-477b-a7a3-927578070eb6 CLINVAR:13556 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dca83e12-d242-451d-b935-f92ca89ec599 CLINVAR:1330325 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5be08544-796b-4412-83ae-20988f244b61 CLINVAR:1330325 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 439a4050-ade7-4262-9291-9a0a6c0247b9 CLINVAR:1330326 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 604a74be-7562-4653-97c4-de20892d6577 CLINVAR:1330326 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea99e761-cd74-4bb4-9591-945988eb3b36 CLINVAR:1330327 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05e32c76-d4fe-4ddc-a8e9-6dcb81456eaa CLINVAR:1330327 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd46e831-d644-4d75-9a53-c76ea942d4d5 CAID:CA399801004 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b96da91-66ff-44c7-9a48-7b0faa2bfb2b CAID:CA399801004 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a17e51f-0824-40e4-9144-c93a319a593e CAID:CA915940253 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5986d0e-48c4-4a71-b7fd-e109d96a961c CAID:CA915940253 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59e72584-d8ae-412f-8cb7-b65a6204ba9c CAID:CA400025098 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae1c7bbc-26c4-4925-9fe1-8c1e1c3216a1 CAID:CA400025098 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c4f322d-185d-4276-92c6-fe4a6e85a60f CLINVAR:1330333 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 764af0ce-7bc0-4278-9958-9cc5327bc224 CLINVAR:1330333 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b12cd94-c12c-4241-a094-4586e0ebc260 CAID:CA400032983 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a7631377-4a96-4a9f-9309-6752f63139ef CAID:CA400032983 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e18dc728-a27e-47d4-add7-e54f5f0334a1 CLINVAR:1330335 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 262be37c-bb54-48da-8061-5520ba711668 CLINVAR:1330335 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6738ba26-08c0-4b12-a2d6-49456b934370 CLINVAR:13562 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd467a8b-f4cc-4a74-890e-f8ca1b5182cf CLINVAR:13562 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6287ff1-3786-4263-bb79-396af4c5e531 CAID:CA915940237 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed6263dd-7dce-4029-9277-a9f74baf9153 CAID:CA915940237 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32bf086e-464c-45fa-b66e-b6953146ff74 CLINVAR:1330339 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb7f1564-d209-48ea-a8a9-ffa0a35d8ffb CLINVAR:1330339 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62096524-3673-48ae-91d3-cf5ed4d935ca CAID:CA400021329 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be9dad2c-e6f0-4f1d-8bca-a26af5ffb6d6 CAID:CA400021329 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4696e89-b0b3-4f36-8ece-ece81995f4aa CAID:CA915940309 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b70e2ce9-1e75-4ccd-9b38-49d938b190e4 CAID:CA915940309 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 042d5663-a8b8-41b9-89f9-db10d0332ec4 CAID:CA399805691 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5d8d0b9-4137-46d1-aa55-b76f9875b9a9 CAID:CA399805691 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67c29e75-69bc-40b1-8d1d-aa998eb0f90d CLINVAR:1330343 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77fe6890-4fd6-4534-b59b-2410726d9a66 CLINVAR:1330343 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00f938a1-bdd9-4692-9698-392e84764bb5 CLINVAR:1330344 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a675daf-610d-46b9-8276-6870b7df4adb CLINVAR:1330344 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f40a95a7-e8bb-4a68-9474-be841bf5bb71 CLINVAR:1330345 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f50857a2-720c-4b61-bd5c-4b53082dc244 CLINVAR:1330345 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e47f2afe-c215-48ec-97c2-70ac14628b45 CAID:CA399805552 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02e63350-ab8e-4f77-9b7d-1bc3565b83d9 CAID:CA399805552 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fea6c2f8-745c-44e3-b249-1cc71e1ff545 CAID:CA399796017 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 67fc88bd-c99d-41ce-9839-1b65995de7a3 CAID:CA399796017 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e7cd768-b3bc-4ebd-abad-2b39d07424cb CLINVAR:1330348 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b69583e8-3d05-4754-acbb-0a1984cf3ccb CLINVAR:1330348 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75d21160-d2ea-4a87-8c76-128f5e4839fc CLINVAR:1330350 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 270cb656-515c-4536-9724-9475700c3ece CLINVAR:1330350 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd0c775c-8c1f-4869-8a31-7983018a0423 CLINVAR:1330351 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83be65d6-51d4-420b-82dd-1f1456b22ea7 CLINVAR:1330351 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2c971fd-2043-43bb-8c71-0ec637c0e74e CLINVAR:189776 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d90c9d9f-4705-42ba-abc2-cb7bf1c834da CLINVAR:189776 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b695e9e-822a-48d9-a9a9-a774ef80ddc0 CLINVAR:156661 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb4437d6-68d2-4421-b6b3-a3409c8f65e1 CLINVAR:156661 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d213f8e2-b0e2-476f-83a7-111a20a98778 CLINVAR:143700 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45cc5d44-c123-45fa-807f-61612a87ac2f CLINVAR:143700 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1945faf4-b0bc-406d-86f6-95f4d35b1206 CLINVAR:143563 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4057eeaa-c84c-4e5c-9f55-f394a5441140 CLINVAR:143563 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 661a0661-a958-42c9-85c0-f81a995f3201 CLINVAR:143590 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 376a22a2-0076-4a33-90f9-5de6b709e394 CLINVAR:143590 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12f6570d-62b4-4e39-baa2-3df3b6babf0b CLINVAR:143583 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14fb41c6-917f-4e5e-8bac-1be9dda8110e CLINVAR:143583 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f24bd440-f10f-475d-aad9-455565af08fb CLINVAR:143579 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 297245b6-3893-4dbf-90ea-f45e51a96d8d CLINVAR:143579 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 556c3ae5-9be7-4e8f-adbf-2b8ec6dd871d CLINVAR:143564 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 70130dcc-b7d2-442c-a404-6563fa443b6b CLINVAR:143564 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2410eee7-8470-4985-a2b9-df6c4f23fce9 CLINVAR:143559 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e4e7f74-77f7-4623-899b-a953df9f6604 CLINVAR:143559 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66c10213-ef0a-49b5-ad01-b1f0d3c3d6c6 CLINVAR:143552 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79cdca6a-232d-4f5c-aa98-f7f4216d0f66 CLINVAR:143552 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen defedfb2-a708-468a-b66d-64871ab53781 CLINVAR:143546 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0d5efe0e-0b13-46f2-bc20-e369060fe6e6 CLINVAR:143546 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 584af6c8-9b44-4722-95ef-8e2902378874 CLINVAR:143541 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c4b00b5-cc79-48d7-b9ae-81fa78a44589 CLINVAR:143541 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03699c71-7e20-4c47-9a94-febd77dcedd9 CLINVAR:1334145 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 654c2824-5456-45c4-a4e1-b0e89d822218 CLINVAR:1334145 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb0ba565-9d3c-47c0-a0b1-fc3a97008ad2 CLINVAR:1334147 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f51766ff-b0bf-445e-824d-74258dd0bf58 CLINVAR:1334147 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 180d67fb-3de4-4657-b272-021ce2dd030f CLINVAR:1173962 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db3c8bb1-e3ae-4b8a-9bf9-1ab003e3ecbe CLINVAR:1173962 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 840855b1-3faa-4a74-a657-0b7ed44b47e5 CLINVAR:1334148 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c06b84d1-7572-4109-976f-d33ceba7f1bb CLINVAR:1334148 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab28a412-5b8c-4ef1-96cf-5aa54e166497 CLINVAR:1334149 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e2a64b99-c30c-479c-8dc2-bad114a70bbd CLINVAR:1334149 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57299f99-482e-43fe-9003-4f7db655c1b0 CLINVAR:805632 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c243b1ed-f51c-467e-9cec-1ae3d1146ec7 CLINVAR:805632 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fa1e20b-087e-45af-b19e-7659372adef0 CLINVAR:586792 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57b2c6a1-cbee-43b6-89a2-4abd7e190702 CLINVAR:586792 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cc8febc-87e0-49e4-a9c1-74cddb0a64f9 CLINVAR:36826 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f4a53920-6137-451f-a4fc-de4af71e58f1 CLINVAR:36826 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen decb244a-189c-4cc9-bfab-55f9a83b28b7 CLINVAR:420064 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 604a0576-f0ca-4c59-bf65-f14231d1053b CLINVAR:420064 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3fb72e5-34ed-4116-a4ff-b814f5cd5161 CLINVAR:1334142 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7f3bf23c-f43e-44be-b027-8bb983cd3792 CLINVAR:1334142 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59df37fc-beae-4a20-ac39-5a38373a00e9 CLINVAR:1334143 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 53bf2a0d-50d3-4f3a-971a-9ee35d927219 CLINVAR:1334143 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e6a96c7-f1ef-4875-a185-aded7658c0ab CLINVAR:1334144 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 294175c7-fce4-4380-a829-ef4470062d97 CLINVAR:1334144 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a2b3674-1f25-43e5-a263-5eb5de8ad77e CLINVAR:972754 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ea517fc-90da-4dcd-a856-0e9a5a2524f5 CLINVAR:972754 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7241e01c-12be-42b4-afff-e17ff5e9bf10 CLINVAR:447499 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4a6c48c-f627-48f8-a1f1-08cc8c72140b CLINVAR:447499 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dda0af08-e8fd-4fb0-ac24-82729c8cf78f CLINVAR:435424 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a0fe612-b853-4a58-97df-aa0602a61837 CLINVAR:435424 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aaa7504-0df9-485f-a232-ed55ba409732 CLINVAR:972814 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24e4592d-abcf-4cda-b1e3-0969d1eea760 CLINVAR:972814 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c923c86-c2cd-4807-a882-e66b1445e22f CLINVAR:805637 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ff371b2-a084-48ae-a147-3340401f1ba4 CLINVAR:805637 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53237e31-90f5-45d1-af70-d648c905fff8 CLINVAR:129226 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23a1b749-0735-4b22-9d55-bb52edabe239 CLINVAR:129226 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4c43da6-25c6-4753-b23b-214f823b3d49 CLINVAR:36796 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d3ce33a-98f3-4657-960e-59474bf48c7f CLINVAR:36796 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 011eda35-1a1a-442f-b178-236e0d114142 CLINVAR:435426 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2720afc0-31d8-4dfe-bc93-90692da8cfe9 CLINVAR:435426 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 304c8ad3-f739-4496-8efb-3db09d01bab6 CLINVAR:36797 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae994070-9848-45dd-9393-2a865ffce2a5 CLINVAR:36797 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af8d72b8-1164-44a0-a4d1-2594235fe891 CLINVAR:14928 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9280dc7a-6815-4f75-a81e-c03135ddcefd CLINVAR:14928 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea571c0f-042c-48a8-9c23-a8d27207e51a CLINVAR:435427 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5623c7a5-8034-4a43-9e8e-3d8c6457c68c CLINVAR:435427 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 566614b4-567b-4681-84d4-d2c1b92476cd CLINVAR:489311 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f10cb113-f701-4e28-b4ff-31a8ea653053 CLINVAR:489311 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8420db7b-41ae-4a36-a72f-8ce5b821313b CLINVAR:449404 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6a7f6fc-80c1-400d-8585-eb22b7e310c0 CLINVAR:449404 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 508e5ff4-86ca-481f-9a68-ff8fa9fe99c2 CLINVAR:14947 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3cd21349-1635-46b9-ace6-ca46e240bd9e CLINVAR:14947 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 719e10ba-eb38-476f-b7bf-437abe88cfb2 CLINVAR:156667 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84fc02d0-2778-4c81-8287-4968d05e8b13 CLINVAR:156667 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d523865-874b-4d87-9f9c-3ae3a840f4f8 CLINVAR:440546 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 128847a9-628c-4b4f-bf0d-f96457b3cf67 CLINVAR:440546 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 470f74a8-b940-45f3-8a57-1a97ac69a6dc CLINVAR:440552 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09c9ccc3-5fa6-43a6-b2ee-8fd5684c6919 CLINVAR:440552 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03b4cf36-92f7-42d3-ab61-2337309c8719 CLINVAR:161266 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3da5c167-0618-45b0-aee2-4b581c8907fe CLINVAR:161266 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08e33442-0ba7-46a1-87f9-aac769a57245 CLINVAR:251213 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39f4a265-7484-401c-8cbb-224aae5bb076 CLINVAR:251213 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77865db9-85e6-49b0-aa12-d92c61bedf2f CLINVAR:251340 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 287aea11-a1db-4ce7-bfc2-563532d4c043 CLINVAR:251340 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2465c2b-69d9-4f3b-ba42-f01ad9e5ccd9 CLINVAR:430763 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 635aacc6-0d32-4a21-b76e-bbf6a19f61a5 CLINVAR:430763 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d5cb40f-9d96-4639-b579-3be6a5818fab CLINVAR:251471 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec8f7ff0-92c3-4cb0-b0eb-a47804ce6776 CLINVAR:251471 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e39935b6-6b4e-416a-b0e9-3885e7d0c6a4 CLINVAR:631358 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09e66572-e48f-4a5f-9565-92d3a593d874 CLINVAR:631358 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0670580-4726-474e-903f-8b83332dd570 CLINVAR:252137 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3ada30f-871a-4292-803e-b8768c1d4c8b CLINVAR:252137 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4981d5b0-d6d0-40c2-a872-24f9110b7dfe CLINVAR:161277 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5bf1982-d72c-4811-83ca-6968bcc4cc1b CLINVAR:161277 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8611b547-d5b5-463c-bfc0-4f1eb4464f76 CLINVAR:373430 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7aae239b-0d0c-4784-8ec1-8a0583247af0 CLINVAR:373430 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a492aa8-990e-4a4e-907f-bbeb500351ff CLINVAR:251739 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 291a8cc0-24a7-4288-87a5-633fa7713a04 CLINVAR:251739 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad608c8e-e8c7-43ce-bddf-4a97fe1742b0 CLINVAR:251740 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a4ef1abd-3be3-42f7-b943-7e4236759b46 CLINVAR:251740 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fb979d8-7e14-454b-bd61-73ca2055cb20 CLINVAR:431524 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98e4b6d7-0d1d-4f5f-a35e-c0162452c2dc CLINVAR:431524 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a0f8d2b-3c6d-4b92-aaba-e4b7e01567cc CLINVAR:226313 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b54a9926-23b2-4ea2-b50b-c7e41c83a469 CLINVAR:226313 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d7834b1-f5ab-4aec-947d-6ea577519726 CLINVAR:251107 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3034b043-0882-4d66-b42b-1e8dc1447791 CLINVAR:251107 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3955149a-a92c-4ccc-8a21-e39f0741b49a CAID:CA405685492 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99edf092-ef79-4842-89c6-59724dcce898 CAID:CA405685492 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 939ec859-aded-4953-84df-7fca705308be CLINVAR:1330371 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65953d21-fca7-4bde-9f80-ac5d6dfeed0c CLINVAR:1330371 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58697b15-4986-41a1-a986-3dcaa36c9c94 CLINVAR:133100 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2240f6fa-3198-49a2-90b3-094d2dc2b00a CLINVAR:133100 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9349f8d4-bd0e-48a7-9ddd-daf41d3b6e62 CLINVAR:65986 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91277b83-feff-4c41-bdea-e373925ea946 CLINVAR:65986 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4810b0a5-8e90-4339-b564-6acb7402aad0 CLINVAR:1330372 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8e88c1c-e81d-4f4b-a028-57bebb0a39df CLINVAR:1330372 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee248640-b230-40c2-9959-5b42e0426a32 CLINVAR:161366 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4deec30-2a80-4aa0-8329-7df44f0a4dfd CLINVAR:161366 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c72f9ac-ac96-47c6-8f4d-3bf3e9ebae54 CLINVAR:133164 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0122b306-62c0-4801-84e1-d19818f26f13 CLINVAR:133164 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8926105-7d5b-4a8d-8d74-aa849625fafc CLINVAR:12984 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7be63917-f4d9-4bdb-b8bc-07846162c4bb CLINVAR:12984 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 920536a0-3794-4638-aed8-b9f2acaed832 CLINVAR:374083 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5abbd296-462d-404a-9023-74be9357d385 CLINVAR:374083 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c095d9d7-7ce1-4fca-94b3-17b915df46bf CLINVAR:12982 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4efcc6a-177b-4c62-97c2-9d4f3bdb1c6f CLINVAR:12982 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 870c4569-64d8-45bf-890d-9f6f463e348b CLINVAR:159865 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 720b1095-9090-4f6c-86cd-865e23d4b9cd CLINVAR:159865 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a0861ac-12af-4514-b9df-329215ad0eea CLINVAR:329095 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 374752ba-e964-4529-8c23-130dd9635423 CLINVAR:329095 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f941788-b918-4a9d-b4c7-e714a4249907 CLINVAR:12972 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d82acc1-5ba5-4b6a-bdac-9969f312bb9d CLINVAR:12972 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b852bd5d-263e-4d0d-8afb-63ca6667e270 CLINVAR:188773 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 794d0fb8-2a42-4362-9ffb-9537e1cca492 CLINVAR:188773 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afa38b5a-5de2-4fed-b57c-ab47c73fa7b9 CLINVAR:371126 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d85f022d-e4c6-47d3-82a8-b9a12b8f66bf CLINVAR:371126 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fc74cc7-f1e9-4090-a856-77a53dab97a0 CLINVAR:933520 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89d7a025-8fc8-4714-a7f5-4e4dda3082ae CLINVAR:933520 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 506e944d-691d-4c95-acf7-9cc6e9993d64 CAID:CA401360532 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8da1e7d6-a525-4780-a581-6945b9dc7bc5 CAID:CA401360532 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 753ef400-342d-4092-a25f-1267bd9d1f38 CLINVAR:12977 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0dbc02e-f213-415e-9d64-1a94bb327488 CLINVAR:12977 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95685ef8-cd93-4ff4-9448-226e08287205 CLINVAR:12971 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3890f713-5a1f-494c-a63b-e2723f030709 CLINVAR:12971 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cde25e5b-607c-434e-b143-c3c645802909 CAID:CA399805999 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6084566a-38a2-451a-b0e2-f3542fa5fd17 CAID:CA399805999 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8fc18aa-2886-4b75-8a6b-c828790b2924 CLINVAR:1342944 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cafdf1f4-2203-4038-abaa-1356beb212ea CLINVAR:1342944 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b0c3aba-aec0-4c88-b583-b2bb4cc92eb6 CLINVAR:447502 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7fee5afd-41cf-473e-ad42-333f45567569 CLINVAR:447502 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26462f52-05e7-47f0-a44e-f57e374cf3a0 CLINVAR:251582 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5fc5f9da-4f9c-453f-99c7-7a0c70a2d830 CLINVAR:251582 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a53ff73e-039d-40f2-9097-e6805a100a7e CLINVAR:251812 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e01144b2-075a-4ce1-8e5e-35dc9b022bd9 CLINVAR:251812 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27b49dae-520f-48de-a659-5cc7871caadf CLINVAR:548076 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f930eab4-a0b6-40a2-9ef1-7dd45993fcf0 CLINVAR:548076 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03090f07-b335-40eb-81e4-21a83ff4b0c4 CLINVAR:440642 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e0bbe4bb-64c2-41e4-92f8-36598181a072 CLINVAR:440642 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59ea5a8c-011f-4826-83b7-4f621c85dca0 CLINVAR:375840 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 403cf946-815a-4d61-8cde-608f311f23a9 CLINVAR:375840 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cf07076-2e6a-4c83-93d9-7e5929f32445 CLINVAR:963080 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 652e4f62-2d4f-4257-a433-4884f192c94d CLINVAR:963080 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbb75d25-046f-41c1-8b91-7b55fe89b593 CLINVAR:183126 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0035dab-5b8e-40a9-a73b-6c7f075196be CLINVAR:183126 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdf42aa4-3bd6-42e8-9b09-5693668db30d CLINVAR:252029 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9ad9ebe-bfb9-4f28-900c-a08b17713865 CLINVAR:252029 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 027e9b9b-fbb6-461c-86df-f50ad78ca153 CLINVAR:1342952 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1675dfe-968f-45bc-bfc8-bacf820c1b2f CLINVAR:1342952 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9c2ec47-716f-4c2b-bc68-1ebab0c7d6ae CLINVAR:1342953 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 66d42dd2-a1aa-4b03-a1ca-443595a5016b CLINVAR:1342953 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e12863bd-406b-41ba-a76d-bdf980ad3cfd CLINVAR:1342954 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6656bced-45e4-4534-9dac-bad030a70d47 CLINVAR:1342954 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc034df3-c257-43e8-957d-c370644e1f35 CLINVAR:1342955 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 51c004bb-4b84-4f75-a364-8a009a47dba9 CLINVAR:1342955 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10365975-0c79-48ff-bc88-304ff1c8495d CLINVAR:1342956 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1af92175-ea62-4965-828d-a01a939597a8 CLINVAR:1342956 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1deba5e5-8408-40b0-96a6-1800b1c425af CLINVAR:102812 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab93c325-fda5-4e6a-b4f5-b2ab2a31bf89 CLINVAR:102812 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94052662-d82d-48d8-b0e3-98f7261d9e2b CLINVAR:102887 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f6726b8a-a6cd-4ca1-bb03-8b31e6a0c73f CLINVAR:102887 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1658c1d6-5c96-497d-a16c-c7a003714f75 CAID:CA386954870 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10dcc312-9bc1-45ba-991f-081436ba532f CAID:CA386954870 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bde494d-3cad-4483-9415-8f1cd95c5ea6 CLINVAR:1342958 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88228823-7a90-438f-8a40-c6bd3f7d91bf CLINVAR:1342958 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f37bd2e-fee0-41ad-991c-5e66458cdfc8 CAID:CA16020959 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f65812b2-ec1b-418d-a714-5b1ead6cbdc9 CAID:CA16020959 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8619c2c-c16b-403d-9056-9375c346689d CLINVAR:102923 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 599f3409-ae61-4d09-82ed-0ee32b51509b CLINVAR:102923 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51c2cb3e-2a1d-4940-8400-28308196d0f8 CLINVAR:102862 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7caa03a-f76a-4db8-a566-b2154a00926b CLINVAR:102862 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6236583b-a578-4e02-ad8e-825ee4765e09 CAID:CA16020979 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31bd3b67-4eba-4a6a-a293-f4f5d76999ee CAID:CA16020979 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8418f42f-1ac2-4cca-b4bb-c74d07c6a804 CLINVAR:102468 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc79fd53-261c-41b7-b01b-bf44e5afb2b0 CLINVAR:102468 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fdb573f-6704-4d7b-8251-b51e4dfaf9f4 CLINVAR:102790 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dcadbf12-5813-43a1-9aa2-bf6019281e04 CLINVAR:102790 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 827e3686-74d0-4d72-9a67-dcbd131e413b CLINVAR:102791 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ebf305d-4f79-4096-af0a-279b64130b50 CLINVAR:102791 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c321a23c-0ef6-48a1-8628-6d373ab412d2 CLINVAR:102801 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e63c5a38-e692-4684-9349-e8d68c12e851 CLINVAR:102801 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26eb731c-4a81-47c5-9a7c-23262beb061a CLINVAR:102802 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d5e3dbd-9b52-4ed4-a0ee-e953c5dc4325 CLINVAR:102802 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90cdbaf8-c507-45db-9223-82bb683dd72a CLINVAR:102809 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 085f9d63-2f70-4840-947f-b43ae5be8e31 CLINVAR:102809 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a08ef832-1390-4c80-8eea-a3e234a4b5c0 CLINVAR:1342195 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de6af542-b3d4-4981-9856-7a221be5b12a CLINVAR:1342195 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc921110-c7f2-4f80-b1ca-72b517b2bd2a CLINVAR:1342208 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6144649-90f7-4950-b74e-bd2e06ce54fc CLINVAR:1342208 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c828a7d-0b77-4020-8afc-5e458cae47e5 CLINVAR:1342209 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 319b9c3a-ee7c-4d8c-9a78-3d80e62fe0a5 CLINVAR:1342209 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b455f93c-31af-4870-9f36-63b0c8c72425 CLINVAR:7959 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d2cf51b-7c27-4b61-814e-201ac9fde7bd CLINVAR:7959 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ef8e491-3074-4337-b361-d8c2c7a984b5 CLINVAR:1342210 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 14aca946-0c9a-410f-aa35-e01dfaf772f4 CLINVAR:1342210 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 279671a3-8c0a-4b99-8abc-84d814d6d794 CLINVAR:1342196 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5ab067d-3eb0-4311-933c-298fbdf1a7c6 CLINVAR:1342196 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7af8cd3-15e1-499a-b6b4-cd95e726c3e0 CLINVAR:7960 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac8c6784-1a44-441a-bcd5-12652b5a6129 CLINVAR:7960 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25b5298f-b072-4c09-a9b2-3ca36f69dbc3 CLINVAR:1342197 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b5eb015-6df5-4783-bf0d-b4ea116037e2 CLINVAR:1342197 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3f0de94-bc03-4ba9-8c5e-8a8f38444377 CLINVAR:1342198 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b531d596-ca9a-487e-b3f7-ba2651fef0ae CLINVAR:1342198 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4051dd2f-ea3e-476e-8786-105a1f042ee1 CLINVAR:1342199 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e600107-4a69-4f47-8442-6e49e91affd9 CLINVAR:1342199 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7b0f388-20b2-4a8e-a565-0c84d9e59701 CLINVAR:1342200 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a259c07e-0dbe-43b6-8035-fdc2f99be995 CLINVAR:1342200 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45164499-974d-4bdd-aab6-730a4c8a759f CLINVAR:7947 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6bfd540c-68fe-4157-a600-f5ad04559fc1 CLINVAR:7947 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cce49d7-1de7-4668-9d20-f7760e551fe4 CLINVAR:1342201 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0627ba8c-5002-4e46-8456-a6ca14fdbebf CLINVAR:1342201 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a37c8a11-2883-4432-945c-0b41e7ed30e6 CLINVAR:1342202 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0586125-4ec1-4c90-a726-0f936cc16ddc CLINVAR:1342202 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d57d0b0-02e5-4390-8266-989a8c034d07 CLINVAR:1342203 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5feaae34-09f1-48f4-a8f3-cf8672ae0cb6 CLINVAR:1342203 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de3c1480-549d-4df6-bce8-7e247d15305b CLINVAR:1342204 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe179d49-b611-4746-a143-9498c5b1aac4 CLINVAR:1342204 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7da9cdfc-d963-4baf-8b08-1b2fdd1def60 CLINVAR:1342205 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c70ca47-46cf-49ae-b892-b04fa2f3edb4 CLINVAR:1342205 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2a0db20-49d7-480b-8963-5297dd4dfc7d CLINVAR:1342206 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 505e7a6f-d90f-4934-bd21-93dc60f1076a CLINVAR:1342206 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d65e7cd-2177-4894-87c8-8fa23ce4af92 CLINVAR:1342207 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a5076be-1c83-4fcc-8c1a-7df518c2e390 CLINVAR:1342207 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca2ed6d4-4f95-4b2e-90da-e9f5dfc4c0c3 CLINVAR:1076425 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8df538e6-641d-41c0-876b-8c78a1a43d13 CLINVAR:1076425 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b09d3b2e-9b12-4743-9460-51a9a45b3021 CLINVAR:617952 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3f0b8bba-87df-459c-be11-bf9e94df0996 CLINVAR:617952 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0850d36-dca4-4cc9-af49-b60bed554681 CLINVAR:447493 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bdb0b50e-48ef-4a5f-89ad-07405db044b0 CLINVAR:447493 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13d0829d-43f7-4a8e-9cc7-c08711abe14d CLINVAR:1342945 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f588365-0aae-44e7-a4d2-8d7de8e89a27 CLINVAR:1342945 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dc713a4-cda9-4bd4-aa79-02086fdaa453 CLINVAR:189172 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79f133f0-de40-480d-b046-dfd436636e74 CLINVAR:189172 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52d686ca-f940-41e0-af64-569c2a9c6139 CLINVAR:558634 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d90c84ef-7579-4ea0-af8a-51acb7d18b26 CLINVAR:558634 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50923cd4-5c04-49f6-b905-23f7e587de6d CLINVAR:558604 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7fe402da-bf70-4336-a459-fbb4b258ce5c CLINVAR:558604 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ef683f5-0f70-40e7-837c-4cd54c680383 CLINVAR:1342946 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 258b89c3-6ec0-47a4-8529-198a174e370b CLINVAR:1342946 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a73f79e-ee01-4e78-8f13-e85fe69c3d9b CLINVAR:1342947 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7da3cac0-bb24-4da6-abd7-a13131122775 CLINVAR:1342947 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2967d1a6-973d-4987-ac1f-e099f9324677 CLINVAR:307454 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 82fcbb4b-d42b-41cb-b77f-2c5a33dad107 CLINVAR:307454 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b12955d4-a381-4178-8a74-4a05ebbaffe3 CLINVAR:1342948 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f0c8f03-474d-4969-91d2-5104403fffcb CLINVAR:1342948 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afc871f7-d564-445a-a5a0-24d5104e8acb CLINVAR:36814 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cfff97ef-9a3a-412a-a375-f34443f4c285 CLINVAR:36814 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c2c43cd-cbd0-4a00-ae62-bac51b1f918e CLINVAR:502525 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4103002-3769-4d66-968e-26aa13374832 CLINVAR:502525 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f3f90d5-32e5-4707-9d6a-b1e094671f47 CLINVAR:1342949 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb6bf36f-6442-4169-a420-5fb6eb8491e8 CLINVAR:1342949 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dae21a0a-cbdb-41fc-bc51-3960860c3fea CLINVAR:1342950 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c4c372bc-c2b7-4ed7-9fa3-2b7fb010f55e CLINVAR:1342950 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe11d181-3252-40f9-8524-ab2c550e052d CLINVAR:1342951 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cbed9bf5-df8c-4ea4-9113-eb4fe283e9a8 CLINVAR:1342951 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a9e7f4a-c1b6-4fa3-8832-edd9790ce871 CLINVAR:1342967 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5899242e-67ac-4539-b118-193e0d6bbeee CLINVAR:1342967 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a75f87da-f0bd-4390-9cc8-9edb3aa37ba1 CLINVAR:1342968 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0076eb9-6a28-4862-9795-e75b88aa135d CLINVAR:1342968 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60d918c1-4e8f-4d46-9ff2-3583629f5b26 CLINVAR:1342969 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d23ca1b6-722f-454f-b6bb-b475b37bed8b CLINVAR:1342969 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17dfa49d-0d73-438f-89af-e0c47b7973f8 CLINVAR:1342962 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 892c6aab-5d64-4f22-ad40-e8c505cf76df CLINVAR:1342962 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39b00b89-f255-4fd4-87c5-3ccf0d33ffe2 CLINVAR:1342963 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aebac526-c8ee-4ac3-a7c1-1b99bb1d89dc CLINVAR:1342963 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24d0f19b-02d3-4cce-b6dc-b9931c76f596 CLINVAR:7949 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9adfec93-ce4a-490b-8c85-3a1e803f2625 CLINVAR:7949 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58c1585b-6b6c-4e55-b686-ebde795c364e CLINVAR:7948 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d2d2932-0285-45fb-8164-45b60c20ff21 CLINVAR:7948 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14eacaad-4fad-4145-a9b7-a8903caa9a4c CLINVAR:7961 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b617014-c84a-4e7b-8dd4-4bd5f549f239 CLINVAR:7961 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acff61f1-302b-4016-9e8c-e48e0a96d330 CLINVAR:1342964 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 07cd475c-46cf-4578-8249-4331a9c96d78 CLINVAR:1342964 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81d4c036-cadf-47ee-8f47-b6f425b46019 CLINVAR:1342965 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa94eab3-600b-4fd8-a806-ddd698efa345 CLINVAR:1342965 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86de8702-dfab-480f-9b23-195d47557cca CLINVAR:1342966 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88f7cc47-9041-4384-8525-659010f6c465 CLINVAR:1342966 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7a8737a-058d-4d23-bdd0-d34e9604e3c5 CLINVAR:7946 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f31a13b3-96b9-434a-ad88-e2e8834c2650 CLINVAR:7946 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de7617b8-13d3-49cb-8e0e-4b3a5bfa725c CAID:CA397726277 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91541ca0-0bad-4bdc-8789-e44d180b39b6 CAID:CA397726277 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 796175d4-551c-4030-8c33-3a1dd6b2c506 CLINVAR:554491 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc8e8126-6a8c-4387-9b57-b1de7ca5048d CLINVAR:554491 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ef078e1-2d4a-4e1e-b1f3-35be91cffd19 CLINVAR:189159 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e524d59c-3017-427f-94bf-5a78e4e78f47 CLINVAR:189159 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a52ddcf-c000-4450-bbb4-0602aa5e59f2 CLINVAR:474900 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 806594bd-a490-4fbf-a66c-f0aacdf8cc99 CLINVAR:474900 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5a9be4a-2ce7-48b6-93e9-4baac4aad66a CAID:CA624861219 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bbd5f492-afbe-4c1d-85e3-35643a758ed2 CAID:CA624861219 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12fb6c0a-f796-485f-a4f7-b7a9562a734f CLINVAR:386274 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dac290f5-af56-4bfb-8885-05771157511a CLINVAR:386274 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f928046-e1a1-4a93-88fb-a2d3550aee66 CAID:CA397723028 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01f46013-8b6b-4e92-b93c-e99a073eb9f8 CAID:CA397723028 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcf99586-d58b-43d0-9dd7-29012aae5327 CLINVAR:141522 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9da36919-256b-42df-af87-7d0f4a151fa9 CLINVAR:141522 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55ba3e6a-7c9d-4195-89ee-3cc1ca60d224 CLINVAR:453341 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0d92a09-e2fc-4f73-80b2-db26f434d4a8 CLINVAR:453341 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ec5449a-f65d-43aa-802d-564250e8aef7 CLINVAR:583716 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 521cf391-1b42-4f73-a2d4-0263f1995f39 CLINVAR:583716 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26033dfa-2f00-4aa0-bf04-00769313a8aa CLINVAR:453461 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b20d15c0-5c64-476b-89d5-56332b3517c3 CLINVAR:453461 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 610090ac-8fe1-4774-b3d8-04c366e040dc CLINVAR:231535 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a53b5ff-a573-4990-811d-e713b7e41b89 CLINVAR:231535 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e710ad9-bd33-4c89-8af5-8804329594a7 CLINVAR:3018 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f801a692-39f0-4c26-9e44-24f0edef0d22 CLINVAR:3018 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a440923-81e9-42ff-8b3d-7e8599cb8a06 CLINVAR:3033 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5881e35-48b7-4a20-a519-549275f6457f CLINVAR:3033 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19d82edc-c31a-47dc-b7c1-647ad37885ad CLINVAR:818362 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25ae8328-9c4e-4a3e-8634-8530a0414ef6 CLINVAR:818362 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 193bb6b3-0450-4d41-9ff9-bee7f7f3b1d9 CLINVAR:140818 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1213f03-8b44-45a9-8358-0e8cf2a3204d CLINVAR:140818 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14cfa566-b147-4290-94f8-fe2a6a3020a7 CLINVAR:407718 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2857eb8-0610-421d-842d-429bbbbb783b CLINVAR:407718 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfa34027-7a02-42d1-91be-7a8cbb6b43b1 CLINVAR:929198 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae83faba-d12c-456d-865c-0158120d9656 CLINVAR:929198 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1733ceeb-41a2-440b-b087-b1aa7d0b67ee CLINVAR:220555 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81914c40-eeda-4e30-8c74-974dec545f29 CLINVAR:220555 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d298aa3-4c29-4a0d-b74c-cfcaa49d8097 CLINVAR:186558 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2fd9fd45-7bfe-4857-96d1-494510792323 CLINVAR:186558 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcb75974-deb7-49a8-8fc3-e3acfb056b01 CLINVAR:231842 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1f5ca96-c646-45de-b60b-41c3061e0537 CLINVAR:231842 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b14b9c94-97ba-4edb-80e4-486fce19b94a CLINVAR:490737 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0c9f3bd-2c0d-44a3-b287-8b8e47ff55ff CLINVAR:490737 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68eefa52-ca30-456e-8568-f10f4b4071af CLINVAR:3023 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa309bce-43e7-4091-89a3-692b11f00deb CLINVAR:3023 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ad6553f-95e8-4c8c-a3ce-a5c58aca51b1 CLINVAR:133641 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a12c173f-63d9-4101-a16c-9ff32119224c CLINVAR:133641 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f878b1f7-6879-42af-8570-2f89069bcbd2 CLINVAR:420799 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 382f9fc0-6c33-4d4f-96df-ab31c2caaf89 CLINVAR:420799 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28712d21-de9c-4429-8b13-7ffd62699594 CLINVAR:187275 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46255175-bfc1-4afc-82a2-4fc1e26a193c CLINVAR:187275 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7af26349-6f4d-4336-b39d-e98bf2408446 CLINVAR:141289 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 456832e8-1d88-4cee-b6e1-53828a7d0576 CLINVAR:141289 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4f46ace-eaec-4cb7-8a00-05f950df95ab CLINVAR:3029 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a4c65a4a-0656-4082-8f37-26142a02c842 CLINVAR:3029 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86774a9d-22be-49c4-b64b-3a3e199d3c34 CAID:CA16020825 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6952efbc-eafe-4421-8826-db3734e4626d CAID:CA16020825 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b47155bc-1bf1-482f-88e7-df42294985fb CLINVAR:102534 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 334348fc-91fa-4a8b-aa8b-4e93918c5f53 CLINVAR:102534 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5610b046-feae-4c74-8f2b-6df3f05b456d CAID:CA916084428 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71e5c13c-a8c0-4917-8a77-5c7ef616fd13 CAID:CA916084428 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf3e158f-4f08-400d-af2e-bedcde711ac8 CAID:CA645372267 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 06a49be9-31df-4f2a-ae34-846843aa737d CAID:CA645372267 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbd7c6a9-3a82-4928-81a5-ceee9c660da9 CLINVAR:102820 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f8e0598-59bc-4499-b545-76798cfbedad CLINVAR:102820 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10f1d308-ff31-4c16-bc2d-38e85e2d0d39 CLINVAR:102813 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1e5dc4af-709a-48d0-a131-5fad5e72c88c CLINVAR:102813 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 465a47d5-6d4b-49f0-a84d-3d14c9068259 CLINVAR:102822 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6eb11a0e-99f7-4d00-b9be-c1d42a9eaf74 CLINVAR:102822 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6381d412-7c22-4ab9-b327-0e781301ada3 CLINVAR:102830 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6036630-e433-4d3d-8f59-c1b1eddd3944 CLINVAR:102830 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20bb8c67-dc08-403a-86f9-43c8c4bf577a CLINVAR:1693230 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8d5a7e7-9802-43d2-8d38-4becf2dcb38c CLINVAR:1693230 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5c4b454-daf7-404f-a621-6e0174a27208 CAID:CA16020845 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1461d47a-8e30-456e-8071-610fd46d6740 CAID:CA16020845 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11f41080-fa9b-4b17-b548-0472be665641 CLINVAR:650581 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d29a9dc8-6eae-4b83-bd68-d4a59a172bcb CLINVAR:650581 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4b0d1ad-98b6-49aa-bd82-460d6de8c89d CLINVAR:453367 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 263de0bb-c4bb-4e47-b7a3-332cb08a5dab CLINVAR:453367 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f168b43f-5edc-4466-998b-c4e89945b6c0 CLINVAR:449521 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59ac5721-5935-4629-9fd2-ec1d80f58020 CLINVAR:449521 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15eb6117-5a2c-4717-a7f9-a3e0cdd06c3e CLINVAR:562372 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 835a7d85-adde-4fe6-a5c7-2a534a7d11cf CLINVAR:562372 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8538ed11-0bff-4c89-822c-f4fbfd746b1a CLINVAR:40153 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ad1677c9-cfa6-447f-85bb-42ab98dded79 CLINVAR:40153 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a930208-421e-44b6-abca-4ce4dc04fc19 CLINVAR:9650 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dbcf26f6-86e6-492d-9623-30eeba2959e4 CLINVAR:9650 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 910f9ea3-2a58-450a-b9d6-df6b2842738c CLINVAR:9645 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 618b792e-91bb-46a6-95ba-80a7bbb65681 CLINVAR:9645 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f734bed1-9d88-4696-b746-ce596cc74c86 CLINVAR:9733 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 94cdbc19-7304-498f-8917-cfe342ef3c2a CLINVAR:9733 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6aaa0b71-0c04-4c51-86cd-a5c26ebe3519 CLINVAR:65519 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7836cbf4-7ed0-42fd-a64e-20d487292c2f CLINVAR:65519 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c49e9e6-06a3-44a7-9c1b-0f27d15475b4 CLINVAR:9736 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb321cef-9be4-48dd-a0c8-0feb298acf83 CLINVAR:9736 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8c05a6b-83d6-4e6e-9e3d-b596881310e4 CLINVAR:1675057 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64d2f1bb-bba3-4b14-9ba1-146e118e3d91 CLINVAR:1675057 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 635c31fc-1478-45d1-b497-3609e0510129 CLINVAR:1338407 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d6f4a95-7974-43ce-9229-dbed0ed66eca CLINVAR:1338407 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf095f37-08c1-42fd-a1a6-72cc209a51f1 CAID:CA386952304 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 61865037-825f-427e-b89f-8afc4fd09146 CAID:CA386952304 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f54ee29b-59e2-4211-a273-1ef4b071f0d3 CLINVAR:994546 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0fa7c52-bb1c-47d9-904f-58ba9e85fe8c CLINVAR:994546 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd01f3c2-83f9-4eff-b75a-5be848c54993 CLINVAR:1675061 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 08952dff-f368-4679-9f7f-d98d94b2cf7d CLINVAR:1675061 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d0bfb61-a312-488e-9638-50165dc5b023 CLINVAR:1675062 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 56ca3375-ecd4-4ce8-b07b-68e0286b320c CLINVAR:1675062 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c653a753-a057-45b5-8d60-052ef028aa92 CLINVAR:1675063 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b6eed69e-47f6-4ac3-94d0-f4f1529a9182 CLINVAR:1675063 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b1960e3-452f-4ea4-8b14-94bc6200e990 CLINVAR:1675049 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 30d8eedb-bf76-4e35-b444-cbebf0014aa0 CLINVAR:1675049 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb0de9bf-f08d-4908-a278-e1e1e3451565 CLINVAR:435422 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a044a0b-3d05-435b-b9a3-4c8c89e5f925 CLINVAR:435422 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00696b7c-4d15-4c87-9088-e676c7b222ec CLINVAR:12976 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd53c5b3-a397-4e7d-a3d2-2c48b5dde047 CLINVAR:12976 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17c8d65e-5ca4-41ad-86cb-0155ba2c3094 CLINVAR:12967 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen daab0230-bea0-46b1-af5e-f82b02d8bead CLINVAR:12967 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c962f015-60fa-4233-9b3f-516f587f45fa CLINVAR:133029 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc5e6ffe-9454-4f36-bdac-bb9a038e2eec CLINVAR:133029 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65d613f1-8543-45c5-ac7e-134b45ec5ed6 CLINVAR:133106 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9eb4e47-6978-44bf-b9a2-a7eda0282acd CLINVAR:133106 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8ecb006-2db1-4d1f-b994-1ecf047696e5 CLINVAR:12974 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee6d6294-c4ec-4a44-871c-1dd43f95a04e CLINVAR:12974 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96685b74-ad67-4ab7-8889-a962c299a368 CLINVAR:1675050 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc4adaf0-d49b-4201-809d-838c4aea2498 CLINVAR:1675050 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dbcd6db-7770-49f5-8ba2-b526c835335b CLINVAR:1675051 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1fb28ff3-7092-44bd-934e-c33249043396 CLINVAR:1675051 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4134ef4f-1302-4b2f-9bcd-587afad987be CLINVAR:1675052 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f23bc87-be0a-4dcd-bc30-74761b851c54 CLINVAR:1675052 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3339bbe-1800-46f9-a221-f728ee94300d CLINVAR:251552 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4fb9a854-1c25-45df-978a-66647eec79bf CLINVAR:251552 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf8c0840-3f13-454c-a095-75484b2c7d5b CLINVAR:996231 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 529fe4f5-fb65-4fbb-8cf6-519cfff9eed1 CLINVAR:996231 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73eac4df-7ff7-4d62-9232-d11a9ba25505 CLINVAR:225097 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aae7f1de-d29c-4bca-a9e6-14cf2e903de8 CLINVAR:225097 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33367114-899c-4f12-bc01-174567f4d84b CLINVAR:251747 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd5b7496-45ad-4f9b-898f-ddee5f84d717 CLINVAR:251747 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40510239-f263-41dc-8951-ff8319cb202e CLINVAR:183123 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98c8efd8-51f0-474f-b7e0-681dcd432157 CLINVAR:183123 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5382fcfd-df34-4775-ae67-a45a3a95afea CLINVAR:251996 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d7b4320-4b69-4aa8-8af7-433bb4b929f4 CLINVAR:251996 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2811f38c-38ef-44da-b30b-b85ebaff1ae1 CLINVAR:237867 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9df801da-e019-4267-a408-dea049b8e145 CLINVAR:237867 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 251cf8ef-5466-4843-8b2d-5d51a87bb6c7 CAID:CA2573051031 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b541b88d-f853-4014-ae2b-eda44a72f9be CAID:CA2573051031 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04509aa1-6406-401a-967f-1e42da8cf2bb CLINVAR:1675054 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28767795-514a-47a1-aae3-0291d58b40d8 CLINVAR:1675054 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9606086f-a4c3-4ebb-91f2-439be8e9ada4 CLINVAR:1675055 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11978124-cec8-46fe-8555-dcf1b2dbb962 CLINVAR:1675055 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6aa936ff-4240-4d0a-92d7-10e4d22841ff CLINVAR:1675056 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb99165e-9fe3-41e8-a176-b5b2213cdaef CLINVAR:1675056 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 499f8733-23eb-4b80-9016-88f1d720d63e CLINVAR:972749 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a14d4970-7828-4a7f-82b9-9e6e6e2e4ba7 CLINVAR:972749 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3994771-4213-4d8e-b896-717280ea605b CLINVAR:418252 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b87e69ed-ac91-4c06-b210-4268e9ed9e08 CLINVAR:418252 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f90b4b6a-754a-4d6d-bb3f-907086844356 CAID:CA2573051032 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0856873-a02f-4a23-8bd7-9376027c8bdf CAID:CA2573051032 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f223e23-7b18-4766-a64c-dad44050aace CLINVAR:134506 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 889fc4c6-5d33-4d6e-bf4c-604b51290cfb CLINVAR:134506 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e261149-846d-49e0-9da9-ab3acf876fe9 CLINVAR:1675059 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d6a1646-a51f-4dd6-bdbb-e14a1acfe63b CLINVAR:1675059 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc8afcf1-3b7c-4d79-b78c-4738a49912d7 CLINVAR:1676683 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ab7f7ad-a3a1-4760-a84e-1f8e89c503c2 CLINVAR:1676683 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a2b607a-c9d0-4ac9-b5e3-deab1e1bbc96 CLINVAR:1676692 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4bf66968-6c12-4cc9-87db-2d98b2b4baf8 CLINVAR:1676692 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d9c2281-3545-4d78-bfc6-036a09628f79 CLINVAR:1676699 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9bf8738-e6af-4aa6-952b-56a95f9b10e1 CLINVAR:1676699 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd33c177-1aa8-4b71-86af-6f662b7d9ec6 CAID:CA386952811 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37a10f07-5c67-408b-9ad3-01f6d374e647 CAID:CA386952811 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c0d99eb-17e2-4fc5-9dd1-1c77b50dc282 CLINVAR:1676707 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ac51a5d-88e5-4d69-ac22-efc2c7babdaa CLINVAR:1676707 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b707af20-3ad2-41f8-b6ee-6ca8dd5351b5 CAID:CA386953008 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 303d425f-1144-45b6-9b7b-2e6daa589ac5 CAID:CA386953008 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86fbb69c-a312-441b-a528-be648d80be8f CLINVAR:36798 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 469e2ec9-b2d0-402e-8b16-a7734e67cb91 CLINVAR:36798 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7782d0e5-b4b4-49ff-a4d9-2cbfc1d8597a CLINVAR:1676720 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 246e13e4-8aca-4dbb-ac70-332a179f4c11 CLINVAR:1676720 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31dd9de0-95b3-4eea-b1e3-733b48f7627c CLINVAR:882461 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d87c2e6-9880-4048-988a-78d9c9df7e86 CLINVAR:882461 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae46641d-004f-4703-9d9c-660fe1954ef1 CLINVAR:1676684 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7016a32-e240-4950-a72e-fdcb08f2e7b2 CLINVAR:1676684 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e3dc1f4-da32-4865-b632-a7d6d3c1b9c7 CLINVAR:14938 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98405c6d-6558-4fa2-bf39-d29cc1c62120 CLINVAR:14938 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b94685e6-ad87-4120-b2e8-d5456dd57ac7 CAID:CA2573051034 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98641bd5-fc7a-4e87-95ba-252c93c3ae78 CAID:CA2573051034 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3c6d45d-8e27-4e91-a3ad-b3a983056a07 CLINVAR:36809 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f4b6dc9d-8fb5-49c7-b7f8-7b4cd0e57361 CLINVAR:36809 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d92242a2-1752-4286-8600-4fd29f542c03 CAID:CA2573051035 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30749ba4-bbae-4b96-a171-1e5f9154e47b CAID:CA2573051035 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d449e2f-3865-421d-b956-2114367073f1 CAID:CA2573051036 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9eab413b-16df-4bb9-bc6d-5af399661051 CAID:CA2573051036 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb8e393c-ca01-40d1-8a63-b1277228483f CLINVAR:1676688 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60d363ad-5f2b-4f2c-9ed1-8dc9e5870baa CLINVAR:1676688 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e673101-7cd0-4696-b39d-d8a982928f43 CAID:CA2573051037 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dded35c8-2f72-474e-b687-7361b40c7533 CAID:CA2573051037 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c04cee40-644d-4f48-ad3d-9554899caedb CLINVAR:1676690 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9269aa4-9d17-407b-9b82-a1a9f81e4579 CLINVAR:1676690 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e60ec4dd-70f8-40a4-b20b-6e255b82fcab CAID:CA2573051038 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 07e3cd19-682d-4427-a6df-c526d73bbb9e CAID:CA2573051038 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e7a20ae-29f3-4ac4-92f1-a987a27eb80e CLINVAR:1676693 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4d45945-df8c-480d-bbbc-c8a1978497c0 CLINVAR:1676693 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0fcd70b-d59f-49f5-a57f-75d197dcc127 CLINVAR:1676694 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 59b53296-bf46-40f8-b89c-44c9c5b62249 CLINVAR:1676694 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8781f88-e328-4d3e-a85c-d8b0b875ba43 CLINVAR:251581 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d982f98-01b3-44a1-9df4-e9464dbc0675 CLINVAR:251581 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5368fb97-81be-4b40-9d7a-5ed4853e6dde CLINVAR:3692 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c92aa3f7-3295-44a2-897e-d17d8330d1c9 CLINVAR:3692 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d6820da-4941-42c0-98cc-416d43aed4cc CLINVAR:440612 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 180eceb5-2537-4e76-8591-5100ee0812b7 CLINVAR:440612 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aab8b7a6-e68c-4569-a82d-8d03ce6bf123 CLINVAR:226336 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 19d9cfda-8f9f-40ad-a8c1-47809745e771 CLINVAR:226336 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39230350-78be-4abf-a5c5-f040d653e494 CLINVAR:251532 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e740eda7-b7ea-4169-8a08-9542e12daf8c CLINVAR:251532 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37231ea8-e0a2-4e7e-8550-c729de83ac20 CLINVAR:251531 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e269296-3642-4cc5-b9e0-152e3952c5ab CLINVAR:251531 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e496b9d5-70ca-44d0-a7e3-a69865397a45 CLINVAR:251782 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa8656b1-8263-41b0-bd52-ced4a48d3763 CLINVAR:251782 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01a1dc18-d293-47ff-9c31-6223a4d15772 CLINVAR:251784 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f588a7b-dd86-4018-bd46-a9c5790eec7f CLINVAR:251784 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32a272ec-c23a-4886-8fdd-3c05fadd2dfe CLINVAR:189296 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc12b85b-f6a7-4ff1-a6b1-97e164e88989 CLINVAR:189296 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc5422c3-5083-4c2c-ba02-0a486754018e CLINVAR:200920 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2783922a-0ab8-4e85-9e4c-6552df227938 CLINVAR:200920 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66e29a64-7f1a-4d43-960d-34a231c0eb18 CLINVAR:251505 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f3da850-eb0f-4ab2-b8d1-90da32e05502 CLINVAR:251505 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cebd1b8-51b8-43b0-8cea-080978380540 CLINVAR:441198 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afed3fee-0774-407b-8bb6-5e2ace60243d CLINVAR:441198 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4eb142fd-5457-4210-adb1-7055a32f3abe CLINVAR:441197 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8073dccd-a5e4-4146-b47e-69ccea328397 CLINVAR:441197 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1a29e1c-e98e-47a7-93b8-876983a6095e CLINVAR:998053 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91285dd2-245c-4316-886f-fd8a81ec6155 CLINVAR:998053 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ece4ea68-9136-4c26-b3a7-053d18e71623 CLINVAR:200923 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9994b1fc-c40d-4cfb-93ef-97d5cd88f418 CLINVAR:200923 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc5a0729-b3b4-4b2e-9ad4-80c3330f1c07 CLINVAR:251102 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3bda0595-616e-4077-94fa-3a69e1c1d6a3 CLINVAR:251102 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c95b7c44-1644-4d1d-a2c1-dad17ee24831 CLINVAR:541714 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d722bb7-d2c5-461a-b1cb-587ce292f7e5 CLINVAR:541714 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b388c2c9-d8e4-432b-8b67-445f9c19e12c CLINVAR:932830 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 92b3eba1-7a2d-4c57-823e-d2ed73774c27 CLINVAR:932830 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab34ff2a-7d92-442b-9eff-b884fcfe3028 CLINVAR:552361 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f9d8720-7e60-4143-ba62-976a1a802ea8 CLINVAR:552361 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be029ec7-9457-4537-9051-4824ae18b46f CLINVAR:541718 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fcd8246a-e490-4e32-87a1-61fc309f87ae CLINVAR:541718 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dc06561-fbf5-4f4d-96e5-79ff179b8eab CLINVAR:857574 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 558438cd-bda8-4fda-92ec-f53794579bc8 CLINVAR:857574 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3b74270-5b37-461c-9237-80e46a2882a2 CLINVAR:550796 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 38e3b09a-5dc8-4e45-8dde-37a59f9b6606 CLINVAR:550796 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1a6db80-ffb6-4d74-a64c-8dbc46bd9af4 CLINVAR:203588 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a3836ae-7815-4fbf-aa8d-fc182f888014 CLINVAR:203588 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2a28c40-4f52-44f2-b318-c940ff45491f CLINVAR:943198 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3c7f7b3-9a46-4de0-9cbd-cc94ede5386d CLINVAR:943198 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 698e3600-f8a9-44a4-995c-3491a769b026 CLINVAR:932733 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 88d52cef-3720-4d17-8e33-3e7445e2bbfd CLINVAR:932733 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d04a100-22d1-4e84-b8cb-0fb31f5feaaf CLINVAR:569888 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d47a7868-3802-4b51-a2c3-40f9799ab910 CLINVAR:569888 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b25a972-92d5-4121-96a0-86d4c2e99b06 CLINVAR:556238 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38cdad49-ec6a-4b8a-8043-db027c9e22b5 CLINVAR:556238 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9427c0d-418a-4dab-8401-ba74f9fed371 CLINVAR:932734 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e6def91-2c36-45e1-9361-acee78331c8d CLINVAR:932734 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39e12c8e-345b-49cb-99c9-1a7580da1ff3 CLINVAR:189116 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 62e079f1-8d5c-4edf-a299-07f271638d15 CLINVAR:189116 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87ddea98-95c4-45c7-85cb-fc34986c3c37 CLINVAR:474896 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9bf2c411-516c-4eef-8abf-959d52c7b3b3 CLINVAR:474896 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4334dba-ca5f-43a4-beb8-62d912b6a925 CLINVAR:203594 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 584664bc-d5e4-462f-a91f-3950dcb876dd CLINVAR:203594 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 663e372b-c06c-4d2c-95db-eb08c5a3073c CLINVAR:1624 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37ed6e81-952d-46d7-bba5-dcb144b054ae CLINVAR:1624 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64089fff-1a14-40d1-b3bb-f7cc1d9c5547 CLINVAR:932735 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c638d057-59e8-40e9-ad37-4a9492a99c84 CLINVAR:932735 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bff87d45-5b25-489a-91ab-9c019eadc3c7 CLINVAR:1074732 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 47ce7380-deec-46c2-bf57-4ce3ace47dac CLINVAR:1074732 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79e72b59-f6f4-4c1e-b1c6-42b747cd127d CLINVAR:951288 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f23a0904-b083-4de3-85eb-e19aa19deea4 CLINVAR:951288 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e348ba1c-0579-4743-bbc2-6af2912e1a18 CLINVAR:1676695 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d9b1822-4736-4541-87f8-ffc9dd41b5cd CLINVAR:1676695 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3204d024-2c39-404a-93fb-1a4137824ea7 CLINVAR:36816 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dcba916b-c78f-4fc9-adf8-91d7249e1f62 CLINVAR:36816 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5675d3db-d42e-40f1-bd4d-ecf468684fcc CLINVAR:1676696 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69927e31-f98c-4a6c-918b-f635b5740fd0 CLINVAR:1676696 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 557c45cc-7559-4a4d-94a8-e16733c0e858 CLINVAR:36817 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c1f10e59-cb11-4e89-bbb0-2888e8e58f3f CLINVAR:36817 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5427c5cd-b0b5-4d1d-b757-64613996cfa0 CLINVAR:1676697 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 871392f5-aafb-4a87-8870-bab768aaca56 CLINVAR:1676697 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 434d7dc2-eadd-42b3-97a5-9acabdff291b CLINVAR:447486 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ad177c7-a82a-4c95-8aea-c051c7558b02 CLINVAR:447486 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f14e366-1429-4ccc-a043-08ee8b38ef05 CAID:CA913203553 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9adcc69e-32e8-4783-8846-ad3a642cb9bc CAID:CA913203553 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38b084d2-003a-4e88-beb4-684c5f6f1ebb CLINVAR:36819 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1431a4d-97f9-40f7-9ffe-1fee83d4648e CLINVAR:36819 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6cda6ed-c91b-437a-b181-722b699e8216 CLINVAR:307458 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed131d9f-cdff-4c2a-9a25-0db60df8cf95 CLINVAR:307458 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 101a0169-6e9f-488d-a56a-243b1d52081b CLINVAR:1676700 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1681e67c-8ee0-4e49-8556-7ca14ca2c29d CLINVAR:1676700 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 582e4bd8-235d-4cf7-8c98-0bd9789bc3ea CLINVAR:1676701 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3d9ba9a-ab49-4c1b-bc41-2bb6f7056ffe CLINVAR:1676701 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b615d7a-422f-49dc-90df-da1ac8019135 CLINVAR:14942 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c62c2cbb-bab2-4f7f-aa1b-0fbab1dc8599 CLINVAR:14942 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9298b60d-ed03-4844-85f8-5ea61c65ef3c CLINVAR:1676702 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd7e9a41-580e-4f13-9cf8-072eee8ab36a CLINVAR:1676702 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b7671ea-e544-42d2-a867-de1f68dc2694 CLINVAR:36820 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cef64e31-21cf-4535-9bcb-2713e2aa806b CLINVAR:36820 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 259c5b38-f3e1-483c-8e51-56b0e01d94c3 CLINVAR:1676703 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59c3299a-5e16-41ce-a1e0-1132c2843766 CLINVAR:1676703 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f677603d-226f-4c08-a7ec-2062789a0682 CLINVAR:447489 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0c977fe9-10d4-4969-87cd-472bb192037e CLINVAR:447489 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c85e5cc2-2ff4-4819-b79c-a37f9c078df5 CLINVAR:36821 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3d09491-be51-446a-bb42-dcf6f829e2f6 CLINVAR:36821 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a492b473-e458-42dc-b4f8-5d886456c5f3 CLINVAR:1676704 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c9f18b34-822f-48b9-a1a1-6dd31fce771b CLINVAR:1676704 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be37fee7-eaf4-41dc-a8a6-9bec01d183d0 CLINVAR:447490 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7cdf204d-b041-4597-abb5-9c818e85ddaa CLINVAR:447490 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bab37fd-37b7-45f5-87d1-d5926a6ac156 CLINVAR:1317072 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84413de5-d916-420e-b1e8-5ea25d445eee CLINVAR:1317072 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6c6d4ca-c907-4c9b-a743-5b78e041f274 CLINVAR:377965 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80e2b35f-fff9-4627-93d3-4ffe18ab52e8 CLINVAR:377965 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f176156e-9101-49b0-9a68-4e61e52f046d CLINVAR:372380 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 503d9372-00de-426d-ae6a-f868bed5c602 CLINVAR:372380 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20be4594-3b01-458c-ba3e-bb0450e420df CLINVAR:449035 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b750c421-f63a-4785-b41c-2a2ae5c3b8e2 CLINVAR:449035 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d7d09b7-c8ed-4116-a08c-de3d53cd150d CLINVAR:36824 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b7accc5-ab60-4241-bb8e-77c48292196c CLINVAR:36824 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c8bdbfd-0121-4c3f-9752-3da9720a5ee5 CLINVAR:381588 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aab0d5d5-70cc-4f6b-b909-484cea70f3e0 CLINVAR:381588 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 144730f3-a137-4980-8d82-0b860c0bc57d CAID:CA386964227 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0153c573-cdcb-4392-b164-4e4f719898f3 CAID:CA386964227 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67cb4dac-c094-444f-8f11-a8c8b202cb93 CLINVAR:1338381 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e3a3518c-ea50-4d69-b508-8a4c4e3baa41 CLINVAR:1338381 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 993af226-dcab-438e-a813-9058d1d8a0e5 CLINVAR:129235 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab0394d5-036a-4d21-8bf4-f29e0c3c2530 CLINVAR:129235 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e3e2dd1-a214-4b05-8ee7-6095456f8a86 CLINVAR:393434 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d70bdae-f5c4-4d9b-b573-cfe2db7028b3 CLINVAR:393434 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a54c9a7-59da-4b76-82db-5647bd9274ec CLINVAR:36825 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 41078a57-12ef-49af-afce-7eeb14c645f4 CLINVAR:36825 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ad81403-f481-4b27-b39e-295de59bc138 CLINVAR:435428 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e97aa88e-b34d-4e55-9be8-0fbb00cfdc8e CLINVAR:435428 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d50ad635-5cff-45ad-90c8-6b24130e7a3b CLINVAR:379904 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 17db128c-b6b3-4ec9-b4e2-909fa6df446e CLINVAR:379904 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d44b97c-a28d-42ce-b6c3-ea9d9525e63d CAID:CA386965177 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f3214ff-8606-458f-a165-414ca1870324 CAID:CA386965177 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf2fa045-0580-4811-9a75-5768e33015c0 CLINVAR:393456 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 503f571d-cfb1-4474-87fe-1ff40e7bfe03 CLINVAR:393456 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c2450f3-4ccf-41b1-b265-1472baeeb250 CAID:CA913203569 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3e7a20c8-fab4-4a3c-bf07-3de9483e9527 CAID:CA913203569 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1bce2cc-7a50-4831-9caa-a566d37c4636 CLINVAR:447497 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3c16e0c-a03e-45a0-8659-383be3cafddf CLINVAR:447497 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3123cbf-ed14-4e49-a5e1-e1aa9298451c CLINVAR:1676710 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bbacec8d-7d79-489f-91b8-d60850cb0b65 CLINVAR:1676710 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a648250-b3be-447d-869b-6720c90bc8f3 CLINVAR:1676711 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc5917e8-b206-4d41-8eef-53830637b59b CLINVAR:1676711 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 428aa99e-4557-487a-912f-20879b38005e CLINVAR:452526 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c83e5123-63c3-45ba-a575-3e1a2dbde7ac CLINVAR:452526 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d690ca61-1faa-4778-87fd-6192091d6f12 CLINVAR:36828 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d9cf6fc-98f4-42ed-b5be-cd08ebfee7df CLINVAR:36828 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2353df75-6590-4e5c-b8cd-c8fdc7699a7f CLINVAR:1676713 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7fba44ac-327c-4912-ad38-04d2cd741836 CLINVAR:1676713 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0012a22a-32b7-4297-aa13-106928b5d859 CLINVAR:838654 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eca31573-bc7c-4421-8e39-20ca479ddcbd CLINVAR:838654 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5d0bfc4-bb6b-42b7-a570-268474a1cbbe CLINVAR:203575 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee3fa054-70cc-4b85-ac8c-1e6b9a0e66c5 CLINVAR:203575 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d25328ff-5723-4a02-b94a-6805a18d812a CLINVAR:1676714 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07ab9ce4-526d-4029-97e5-8079c04dddb3 CLINVAR:1676714 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d29a9da-2d96-4d2f-a1dc-ba32e844d696 CLINVAR:1526008 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 132611c1-1ccc-4347-aeaa-80ef33d4b2a6 CLINVAR:1526008 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18802875-825c-4800-baf5-abb1b932c853 CAID:CA915940438 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 368f6b3e-dfe0-4af0-a21d-c5d1a77cdcbd CAID:CA915940438 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0524ed40-ea40-4313-8b39-850238438575 CLINVAR:1676716 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d9dae86-9d07-4b75-9f8d-577ef34bdf81 CLINVAR:1676716 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0196440d-d71f-47f7-b9c3-de0be3605d9b CLINVAR:447498 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c84d5f8-2fca-403f-b699-f56df3186740 CLINVAR:447498 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cf768c2-d088-4268-86b3-7a9a1b806b6c CLINVAR:1676717 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4b602c3-15c1-44b6-8ffc-c7fba5579a44 CLINVAR:1676717 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebfd732f-37f3-41b5-984a-59dec599da72 CLINVAR:998237 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8bb5338e-b7b4-4340-8e1a-3714854e7728 CLINVAR:998237 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b235cdf-8a06-476e-9f66-d4591190e12c CLINVAR:265436 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a485b53a-7ca5-40d0-8288-7bb197fc088a CLINVAR:265436 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70c008c8-dfa6-4d57-a32b-dbc3cec294d7 CLINVAR:562367 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e7b2e69-384b-4461-b153-254f574d7f4d CLINVAR:562367 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59daca30-c8ae-4186-a597-27b55f04ad0e CLINVAR:379138 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e1406ec-a103-4ada-8766-24f1c6677557 CLINVAR:379138 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab35e324-e011-43ea-99da-36f76d562484 CAID:CA386966158 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8330bcb0-daaa-4675-914b-a6254eb59e54 CAID:CA386966158 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cec86577-5d78-4106-b4e6-39bc7bb74339 CLINVAR:36830 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd1bbd05-fe9c-40e7-b482-39aaa6e22750 CLINVAR:36830 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 071ebdf4-2a2c-4a95-8a85-2474344c214a CLINVAR:1338730 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e05f19a-9270-43d7-82da-b5268b799976 CLINVAR:1338730 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf85ccf3-bc91-4bfe-bd18-fe41be029c49 CLINVAR:265193 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10f3c709-731a-4abe-9a3a-219754e4ffc6 CLINVAR:265193 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38c090f5-7461-41f7-9c9f-293a7d56f0cb CLINVAR:447504 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce988acb-9f68-444c-9a99-65b02828e5d9 CLINVAR:447504 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dd8a0c1-56a7-4fb4-b7d4-744c4b8a1c2f CAID:CA916079828 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15df6996-bd49-4ffd-b619-b8e9635fa4b1 CAID:CA916079828 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d336c083-f172-41c8-9f1a-4382de498fa5 CLINVAR:1315612 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 475a0cac-4f42-4d98-a673-fef1a4050b61 CLINVAR:1315612 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f3d0785-9580-4ae9-ae7c-8ae487e0a531 CLINVAR:1676721 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 415a7ae9-a7bb-4602-a28a-20b069ed988e CLINVAR:1676721 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 263f450c-74d9-4bd9-85fa-42381f25056a CLINVAR:972753 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a3d4747-99db-4e56-9c08-78a557c27164 CLINVAR:972753 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92a0356b-d6ee-4b24-8b8e-74b952672f92 CLINVAR:14927 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d703458-b07d-4d2b-a142-2ca39c23e475 CLINVAR:14927 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53b8d520-507e-4d55-b859-5e75cb405a3e CLINVAR:447503 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d09224b-0315-4246-bdb3-f26b8828eaef CLINVAR:447503 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaeaaa19-2313-4f5d-9d5c-172571dc4969 CAID:CA386966358 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad01c42f-c4f1-4997-89c5-e3f94efde066 CAID:CA386966358 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87292056-8c26-4cca-bbf8-2fc94e83b207 CLINVAR:449403 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3648367-c5fb-407a-bbb3-78c74232d5cb CLINVAR:449403 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63601556-1703-4c78-80e5-5ccb8574318c CLINVAR:447501 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13a33c2c-2346-4574-82ce-2690dc3eca27 CLINVAR:447501 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b8b3161-fd66-4d35-b454-c4316eb1ba8a CLINVAR:447494 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8bd0df5f-938d-4331-b989-6541fd6e64fd CLINVAR:447494 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 998b5d06-5e23-43c5-98e4-71728e5e720a CLINVAR:1687075 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec2e1d60-7444-41af-b6d5-47c8bd50ef39 CLINVAR:1687075 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0908fd69-12e8-49fc-ba2d-ee18b19893b7 CAID:CA916084342 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8011a276-143a-4005-99bb-4df3676d8501 CAID:CA916084342 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b084121-016b-4a83-add3-69bc56ddc9ef CLINVAR:102631 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 74647921-70fd-4e28-9d92-e29940b553ab CLINVAR:102631 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91264417-9b68-4550-9c50-474efc6a71c5 CLINVAR:102599 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 416cd6c3-14a2-488a-9156-a95c83289893 CLINVAR:102599 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7310f94-3ccf-45f1-977f-da2a48dc344b CLINVAR:102863 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ada91d50-fb67-489d-abfa-6d7fdf703bc9 CLINVAR:102863 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef930122-d3d5-4d54-b4c8-a18a0230e87b CLINVAR:102836 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4b135908-2028-4a4f-a085-6176c6789670 CLINVAR:102836 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53aba83c-7683-4862-a9bb-110a7e4679ff CAID:CA16020858 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c50df1c9-8793-483f-988b-215bb69823b1 CAID:CA16020858 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 434330db-5e0f-40e5-ac69-29eb105a700e CLINVAR:102835 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49865838-4bfa-4a9e-be22-248dfec12e36 CLINVAR:102835 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ce05457-71f2-4df8-ba67-a818b43e96c6 CLINVAR:102651 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17ecedd0-dd09-4f2f-9603-fd9079b1238f CLINVAR:102651 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e37e1816-d679-424f-a112-983e0f3e844a CLINVAR:624 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 381bc9cf-ea8d-4c46-ad9f-e682a5465a06 CLINVAR:624 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99827336-158d-4c0a-a398-b14b3d5967aa CAID:CA16020834 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fba1d0c7-6eef-423b-8375-6c21895dcffa CAID:CA16020834 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5c840cb-c99f-4648-93f1-a913741e584d CAID:CA16020917 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3bf842a3-3105-4527-833e-1bcf529194f3 CAID:CA16020917 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4237638c-0d2d-4f25-9b9f-24d24fea8797 CLINVAR:430837 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dfdb46a9-b2fe-4a7f-b170-fd47fb0cd546 CLINVAR:430837 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f352fac5-f7b5-4ad9-9cd9-8cddd5d83fa6 CLINVAR:134513 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f1f19660-5925-41d4-b048-b72a1a5ccddd CLINVAR:134513 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b171d588-d5a1-4acd-afb2-1ad8b883ae83 CLINVAR:447484 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 993420dd-66ca-49c7-bb45-5c08ecfeb7bd CLINVAR:447484 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b44b526-f3a5-4371-9ac5-6aa9be2d73d9 CLINVAR:1687067 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be9a01cb-5029-49ba-b77c-153c399efabb CLINVAR:1687067 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f67487a5-b21d-487e-9743-44269196a2cc CLINVAR:1687068 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43c4ca9a-8bee-46de-b061-51e50f0d4526 CLINVAR:1687068 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4833c188-df39-4c31-9535-492c47ca7e66 CLINVAR:1687074 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09f79910-6093-459d-9f25-f6d9d86d6b78 CLINVAR:1687074 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eeca7692-6fbe-4f1d-8808-b5cb1bab7f82 CLINVAR:1687070 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4cbbc1ad-607a-4e85-bba3-d79169bb04e5 CLINVAR:1687070 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0af8e1af-247a-4ad8-b29e-c9bf5f454dfc CLINVAR:1687071 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 245b9381-0884-481c-99f8-f9b38031f24c CLINVAR:1687071 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c829dd57-9c8b-40e8-bab5-50a2cddc6a84 CLINVAR:1687072 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 866ba53a-ac6f-4d96-a81c-20678c12f8a3 CLINVAR:1687072 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 118d553b-ce61-4e65-90cf-14fcf3796cac CAID:CA386958695 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10badfb9-7ff5-49a7-bec5-e2ff2b9f845c CAID:CA386958695 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ea314b4-6131-45fe-a493-e4ebacc79145 CLINVAR:447500 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b322a981-0820-4bd0-8898-4fb69db8a907 CLINVAR:447500 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 106a3570-a520-4bdd-aca3-bca5a5181a3d CLINVAR:14945 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a40aa135-9d34-4341-a082-47872c85e803 CLINVAR:14945 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd3ef507-d44a-46ed-a160-6e84806647b4 CLINVAR:1687076 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b24bd498-62c0-448c-bc72-8d2fac4e9d7b CLINVAR:1687076 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0637fc6f-e422-4eea-ba86-79b73248f349 CLINVAR:252220 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ceec229-6a83-40e0-b9c5-6771f88932a5 CLINVAR:252220 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e083bed4-3de8-4707-a914-47a942b6e3fb CLINVAR:252221 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26b6e564-708f-42cc-9b1f-91b25702408b CLINVAR:252221 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2f54f18-70fa-43c0-b61c-18bfe38b02ef CLINVAR:36823 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 67efd696-3c8c-45cf-8325-a7b53f7fec7d CLINVAR:36823 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cb89617-b1b2-4353-a3cd-4dbe61eb40c3 CLINVAR:134509 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1212af37-57ab-429e-94c6-94e34500e8cd CLINVAR:134509 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6019e8f-3919-4863-a709-64e8041484ce CLINVAR:918071 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32d1adeb-c32b-4229-9a34-368e894db82a CLINVAR:918071 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ef452ae-3e44-4f0c-8611-ed9b8c306e4a CLINVAR:843407 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b283220-503f-41dc-adec-9dc6bede3a51 CLINVAR:843407 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa4ea26a-90bb-4f44-bb92-3c87e6222a25 CLINVAR:251435 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63720e42-8887-4d92-b7b8-eda03bf3e097 CLINVAR:251435 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2bd4278-219b-4852-9e4f-09b4fa009c34 CLINVAR:226351 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cec9eb7b-f2f6-453a-bc59-1bf3bb2c1197 CLINVAR:226351 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cfc1435-e558-41c2-a7cb-5dd1e19314e6 CLINVAR:226352 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 41f4e408-44b8-4216-87ab-1a6444bc2ae3 CLINVAR:226352 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83a1a001-4ab7-46e0-bc74-d8ab13612e72 CLINVAR:250966 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9907979d-dbcb-4e27-b26e-727e698b4912 CLINVAR:250966 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ec72b77-bfd1-4511-82fb-cbb23d4edb7c CLINVAR:250967 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c804d30-815d-4ba9-bba8-4b0d209d751c CLINVAR:250967 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b3eb684-432c-494a-8712-36133b431cc8 CLINVAR:441174 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9aa21406-0723-4f79-91a1-ff90dabc180f CLINVAR:441174 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b558358e-ac5a-4eb1-b926-0aca4f3a5c1e CLINVAR:440536 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 368e579b-4c72-4680-b723-45aabede69cd CLINVAR:440536 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a2a3bc0-8ab2-491c-9614-10e90578ee06 CLINVAR:250969 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15bb533e-bbd4-4a4d-9228-092cd351ab8a CLINVAR:250969 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a13ac9b4-6cf5-4dde-a3ea-cb9b71c3d957 CLINVAR:3739 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 12dffce8-c82c-447f-83e7-cdbd4d561148 CLINVAR:3739 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ca33e36-1778-402e-b64b-6ca2aa4cac9f CLINVAR:1687077 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c47ad1f-cddb-4fd5-952b-eafa01f12b99 CLINVAR:1687077 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9162de63-7c34-4771-9a1e-e30d60ef035d CLINVAR:14935 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 30731c23-0d77-4746-96b5-7fbf3fb2f4c9 CLINVAR:14935 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3de88728-b089-40b9-88e8-a88e6a44fbb0 CLINVAR:920048 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d04d3bf4-3bdd-4298-86ff-c15f934693e0 CLINVAR:920048 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdbbf492-02f3-4d58-823e-b6446f1e686f CLINVAR:251580 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 884ae5bd-e114-4a98-a673-a92e027c19d9 CLINVAR:251580 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ffea086-fd71-4bcb-88e1-2eb54fa7936e CLINVAR:440663 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bbf47125-5ddb-4ce1-b961-a5631a7e211e CLINVAR:440663 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45e1a275-e020-4e3d-8b7e-fbf3f8ab1eb4 CLINVAR:252084 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 06df0ada-e1b0-46fc-af0b-09fb8b770fe5 CLINVAR:252084 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 966a7da6-ad09-488c-9644-5c170529f03c CLINVAR:252085 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb58865a-7da5-4b34-87f9-09ed1026141d CLINVAR:252085 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05f62031-e193-45df-a4cc-4bfed2575126 CLINVAR:250957 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b3df208-21c4-4ca2-8539-1eb5bcb0e06e CLINVAR:250957 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef79ce5e-35ac-4f91-ba99-51eea9fe04a1 CLINVAR:251508 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 48cdf605-be90-4432-815f-b3d5b954cc1c CLINVAR:251508 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d993255b-d425-4779-8f5a-4ee8cdc37c49 CLINVAR:251507 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5540a91-e59b-42bf-bb42-4849562048f2 CLINVAR:251507 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f789d07-0a5c-429a-951c-8605328831ed CLINVAR:36459 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c46b9dd-20c9-4f6e-be64-aac2d2378021 CLINVAR:36459 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c31de64b-778b-49bc-ac06-4e4fed93878c CLINVAR:252224 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58f9c6c6-589f-41bd-9e6e-9fce2ac19107 CLINVAR:252224 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c82f6700-e58a-4c33-8725-c25340f84cf0 CLINVAR:250933 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d63f8d8-51bf-4656-9ffe-13f4b81ba17e CLINVAR:250933 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5ddfef2-ae0d-4a21-9101-5578fdaad41b CLINVAR:251611 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 897e214a-05e2-4d76-8ced-f5d681abc2fc CLINVAR:251611 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3acbab2d-d984-424b-8556-11d2d2b6b3c2 CLINVAR:226342 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 190b13a5-87e0-4b22-9400-9ae797534e56 CLINVAR:226342 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c12d1f53-07e2-4146-90f3-8db25a8aaf0d CLINVAR:440627 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eba9e978-4caf-4847-9dce-654e3037dd21 CLINVAR:440627 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bf0c1cc-7a8a-4c0c-b530-4822ffb05187 CLINVAR:251693 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62ae77ea-ca9e-4589-8797-ba591dd96735 CLINVAR:251693 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81c45553-0788-461e-ab10-7021d7e28c1a CAID:CA397722480 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a2a0e0f2-75e2-4644-936e-68eaa6a942b3 CAID:CA397722480 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a90cc716-eabb-46b5-975f-4f7392c6584a CLINVAR:648624 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b11e5cab-dd24-4254-872f-aa76d52d5f1b CLINVAR:648624 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ae860f8-e441-4842-a3a4-ae6f17cc9663 CLINVAR:181279 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8aaabe16-88a0-49c6-bcad-c93823edeea0 CLINVAR:181279 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2c3ae34-9e92-44e5-8c68-5e3a7d24c8fa CLINVAR:181390 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de2f8037-efc1-466e-acbb-98d5d39692dc CLINVAR:181390 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f384289-3cef-4b29-9865-4f201409cc26 CLINVAR:43095 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0faa1e9d-2036-47e7-8f4a-58fdc7313ec7 CLINVAR:43095 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cedd21ec-62db-456a-bf70-e8ff08bbce00 CLINVAR:953854 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a60d7bf2-4bf8-42d2-b99d-73f0f72a0100 CLINVAR:953854 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51945a6b-ab27-4149-8454-042bc7e71dde CLINVAR:932736 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9c41b0b-481c-4f0e-8ad0-6b396cd7053c CLINVAR:932736 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 229465d4-d6d9-456d-8d75-eaa589d13f18 CLINVAR:250970 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c372ea35-d1ae-4317-9d7e-4f241897556c CLINVAR:250970 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6764b3b-f259-4fc1-a372-b0511515ee21 CLINVAR:251309 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 115710b6-93e6-4561-903e-264e8b9c60b2 CLINVAR:251309 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb8b48d7-9011-47ef-8ddb-d6ed23f37c15 CLINVAR:3683 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a1760f1-9165-4dfd-97ac-198a5c14cd36 CLINVAR:3683 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29a521af-d86d-42cd-b02f-cd0a173fab17 CLINVAR:3691 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6b3adbd-c203-4da2-8c6f-b9fabb240ec5 CLINVAR:3691 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e29d40a6-ec02-425b-a9ea-8501c0f2c692 CLINVAR:226333 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7661a35-83b8-4c3b-9a06-be73400e68d4 CLINVAR:226333 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1091ce7-58b2-47b6-be32-2c0f433a3a0c CLINVAR:251421 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1254889-93f1-4e20-8ad7-63c6c64ca817 CLINVAR:251421 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b33e6b51-73ce-46e4-b7ff-0f0e8baa27dd CLINVAR:440613 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 077e2032-0d5c-4d72-8ed5-1655fa9d9091 CLINVAR:440613 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3ad331f-8371-45fb-afad-47b0e08f632d CAID:CA386972260 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9a444e4-7dda-4251-b757-8ed87fc539f4 CAID:CA386972260 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3118f0a-8471-4f92-9ae4-8180f802540f CLINVAR:256597 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf8c1022-ad74-41c3-9e73-7cebbaa05710 CLINVAR:256597 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19bb1711-fe11-4c1b-a497-73847bbe25aa CLINVAR:36829 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f35f27a7-dc3c-4f1c-94e4-0a76847d236e CLINVAR:36829 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e14677d9-3b63-4b43-9b98-047a8b84996b CLINVAR:1338571 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6bbd551d-622d-4a41-89a9-726f384e342f CLINVAR:1338571 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdc37d3f-85c5-41f6-b1d2-ddf20ae71f79 CLINVAR:36832 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 557fdb36-f313-446d-8834-d62310a0fa9d CLINVAR:36832 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f15961a8-c946-4f39-b874-ef1f754b3c46 CAID:CA386970411 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c02502a5-b613-4b77-9cba-9862526a5655 CAID:CA386970411 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 278b3bc9-8f87-4ed5-b42d-f1f1c31203f3 CLINVAR:36803 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6abdd26b-af37-49a8-9cf1-55c45e1d3019 CLINVAR:36803 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b468361f-0eba-42c4-a1a7-e936b975fecb CLINVAR:256598 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86fecfad-6f00-4a8f-97d0-1676837dd736 CLINVAR:256598 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a963c6a-fc19-4d14-8711-d4e24c4ea9a1 CAID:CA2573051033 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0a79fd1-1a5d-4d6f-8ebe-58783c4fa0bb CAID:CA2573051033 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12d0822a-36af-4261-8ac9-0c6a49dc2cc9 CLINVAR:307462 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f349f19-44a1-49d1-ba38-a466dbafcb5e CLINVAR:307462 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6415d72-af5b-494d-86c7-7c135fa1a01e CLINVAR:36812 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16aef5f9-4032-4847-ab24-f9d8a6b7a521 CLINVAR:36812 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb4497fd-f659-41e0-83d5-a3dc7f5d80e9 CLINVAR:1687082 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f406b50d-f2ef-4342-8bfa-43bb35e72672 CLINVAR:1687082 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c17dff3-2510-4bcb-9e12-e2de09b787ac CLINVAR:1687083 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7f78d25-8fd2-4d6f-a696-a4c79beb0a33 CLINVAR:1687083 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52738aa9-ae5b-4424-a4ea-4077b4a713f9 CLINVAR:438709 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24f8dbba-b05f-48cd-956f-8ec6e6a1e84e CLINVAR:438709 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2fe37a3-7e24-4d68-a86d-dc6d3082d8b3 CLINVAR:1687084 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93ee6a55-aeb5-473c-950b-b30d8dd526a6 CLINVAR:1687084 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4f15cc1-f23b-4287-95a4-41ef68cfa57f CLINVAR:134507 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14940bb8-1b7f-453e-bc55-1647b70d08a9 CLINVAR:134507 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0be85ad3-b6c5-42cd-8bf2-cc874e9938c9 CLINVAR:1687085 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06c6b45a-6c39-4b09-b627-96ec57b82c94 CLINVAR:1687085 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc0cc555-1898-44bf-af55-55f6b1608cce CAID:CA2573051045 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed63eb67-ae95-4767-b4d3-e3c24c42a16f CAID:CA2573051045 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37d82a4c-893f-461d-9c3a-0a7b23ef1848 CLINVAR:1687087 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65ce00f4-b14c-4c49-a6e0-0e7ceee87f24 CLINVAR:1687087 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f1b3586-1053-46c9-b978-8857886b95b2 CLINVAR:307474 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d8cbb95-2da6-480f-9b71-fd334e578fb4 CLINVAR:307474 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1380cce2-f211-4472-94a4-e2798ed52b7d CLINVAR:376917 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15e8208a-e86f-4975-90e9-c96e56b06bad CLINVAR:376917 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be5f39b6-a691-4c8d-97b9-a675ba9ef585 CLINVAR:371068 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0f35704-e015-479e-b8e9-6486bd4004b4 CLINVAR:371068 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2f9a95a-96a7-44b8-b210-b61c59cbc9f8 CLINVAR:373614 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9368c198-7f06-4e43-aae8-dc8f9e3eb538 CLINVAR:373614 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46c6f1cf-dd51-4257-919d-bc025ba69b3d CLINVAR:929167 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c90f14a5-7355-4690-9d54-c7ad9ca21971 CLINVAR:929167 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a4de5fa-53a1-4863-aa23-338dc058d043 CLINVAR:4025 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d39b43ef-0e3e-4d25-9173-6be556d7b7fe CLINVAR:4025 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db26e4ec-3eb9-4b00-9228-be447358d4d9 CLINVAR:1693548 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9265f2b7-c2fd-4469-8d9f-d7cb344bd349 CLINVAR:1693548 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7be27c69-db0d-494a-9794-b4a365c5afba CLINVAR:180144 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b711937d-f74e-4940-bdc8-85e23ad70f18 CLINVAR:180144 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ee093cc-0a10-4f96-8c4d-7f24352ca2f4 CLINVAR:430167 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2bf726f-0950-4e98-98ce-14616924f9de CLINVAR:430167 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15c0255e-381f-4313-ac6a-a66ccbacad47 CLINVAR:307467 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4cdead64-44c2-4394-a3d6-0bbf4c8f6f5f CLINVAR:307467 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee541a9f-83c3-4cac-b696-bb65022b2be3 CLINVAR:48256 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f4b53871-0cdf-4159-865e-c6805d77593a CLINVAR:48256 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28f787d2-888a-4b13-a06b-354a45301392 CLINVAR:6137 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed9f3fd6-5e4d-42c2-b3d7-ccd9decf211c CLINVAR:6137 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f714517c-0d18-4dbd-a4d7-4ba12364f871 CLINVAR:21831 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e4d5c77-b278-41d5-a0c5-4c806097ef33 CLINVAR:21831 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5ef0904-a389-4673-afe5-00b46900b23d CLINVAR:48253 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ee35caa-787f-460f-8d2d-4d5d2211d525 CLINVAR:48253 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53bc1c03-55ce-4b88-9e80-8fb9f6ccf01a CLINVAR:897955 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c04a2a6f-27bf-4ea9-92ac-7871bd0b218c CLINVAR:897955 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffc55363-2987-443c-b47f-3ba477bd332d CLINVAR:48235 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe78a1db-95a5-496d-8572-46b24c2a923a CLINVAR:48235 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f119ba7-58e0-4566-97f5-4af89161ca31 CLINVAR:500061 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c14990ca-a9bb-4197-a476-951ab04a384e CLINVAR:500061 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cc23334-29cf-4568-974d-52c0ecb080a6 CLINVAR:666995 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c232af25-5f09-4aee-a066-ec4c6eb8bd8b CLINVAR:666995 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eca1b3ca-a2f8-40c2-b730-08e4c05af8ae CLINVAR:505185 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08320cb9-6f61-481d-87f7-6b089508862c CLINVAR:505185 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45d70e3e-2c78-4153-b438-273ecf310eba CLINVAR:930033 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d516a64a-4dcc-4f7c-ac2e-bfe3f7a4f2d5 CLINVAR:930033 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e19d3d6a-cb5a-480e-a267-c949be973475 CLINVAR:632271 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 001d35f0-772f-4a51-b2af-5e3c25834168 CLINVAR:632271 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 066e3fb7-f0e5-4fd3-bd4a-aca707352a32 CLINVAR:623347 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac9dc123-8845-4ae9-92cf-845812ba38a5 CLINVAR:623347 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64db476e-9e94-4e81-b7dc-2c6870319548 CLINVAR:449526 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dcb0dee2-2c16-4451-a6c4-3df2badd43c5 CLINVAR:449526 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2d8dad2-4c00-405b-9f05-e14624d2e2dc CLINVAR:6950 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b1ddb46c-4e3c-4efc-a1ac-c9a8fe1221e7 CLINVAR:6950 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afe6f9d4-3df0-4bfa-964b-727114b22e46 CLINVAR:1693547 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 130a8965-f20f-40f1-8f31-e916057420d6 CLINVAR:1693547 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 127ab0be-1746-4e18-98ec-ea4d107fa31d CAID:CA658795287 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc89a129-ee8b-4ad8-9557-583d6767d826 CAID:CA658795287 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f09ccc88-cf60-4bb1-8876-784231c298a4 CLINVAR:370277 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ff5d7c2-b602-4d34-85ef-1fd04e79098e CLINVAR:370277 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 461ed797-2977-4ca7-b279-49fdbf73214a CLINVAR:1686781 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen addbe6a2-0947-4d16-ad1a-209189ed6c99 CLINVAR:1686781 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d65950a5-80d5-44c2-bd0c-74224644cc71 CLINVAR:1686788 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b60bd0af-e11d-412c-a01e-1b567bc043cb CLINVAR:1686788 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 211eb3c5-69c4-435c-8441-3295d20c3ed8 CLINVAR:7952 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63c5be23-cfac-4d89-8b05-b1ef08f7b086 CLINVAR:7952 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfa17fe1-5d85-45af-b592-0ba29dea8a7f CLINVAR:1686795 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5240639c-6663-45d8-a618-f68afe430354 CLINVAR:1686795 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d436b09-5013-453c-9a2d-e6c0a5164524 CLINVAR:1686796 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f94a8bc4-0906-4817-857a-a4c09c185222 CLINVAR:1686796 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41bfec74-4c35-441f-aa1f-20c71da54ed5 CLINVAR:1686797 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89e87830-056b-4026-8287-774797afdb99 CLINVAR:1686797 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66911555-1f25-4948-9dfd-da5cdcb86503 CLINVAR:7954 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64f251e5-1667-4cc1-8192-241675d918e6 CLINVAR:7954 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dd11cb8-e4e1-4177-9829-175fbd2d1f62 CLINVAR:1686782 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ef3cccd-c592-47a9-a1cc-e7633c091316 CLINVAR:1686782 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5f13050-c8bb-4592-9e44-e80086ef017d CLINVAR:1686783 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e2a9388-a9f4-4b47-bfab-10fa440639f6 CLINVAR:1686783 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b114ab32-1bde-44f6-926b-2e7695661957 CLINVAR:7956 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c20d108-aaef-4188-b903-90fe2d758a42 CLINVAR:7956 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b5c5dc4-920f-49f1-8376-f55065946303 CLINVAR:1686784 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c44ede7-c4c4-4339-a1db-6e7d4c6388e2 CLINVAR:1686784 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ab483ee-ea17-4680-9ac1-88c0ea2c819c CLINVAR:30205 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 498f1bb3-b6c8-48ce-a0e2-fc8ae647d71d CLINVAR:30205 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 286ab451-ba43-40ed-9184-37114a13f7d6 CLINVAR:7950 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bfb5ac68-debd-410d-a706-02a05265bf8d CLINVAR:7950 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fdb619c-8040-40e2-af43-91604d82431b CLINVAR:7951 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f07816d-5d37-42a5-a663-5273e6021878 CLINVAR:7951 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0595e6aa-bcd0-4a4b-8573-8a20a1976cfd CLINVAR:1686785 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7968fed-7202-469e-9d2b-38db8acf8d12 CLINVAR:1686785 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e9c9422-ba43-4320-9ca9-ac6c1b2a6bcf CLINVAR:1686786 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98ecc689-2b5e-4600-ba7f-c5b043cc0fb9 CLINVAR:1686786 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2af747e-12b7-443f-8076-c0ad99f9bacf CLINVAR:1686787 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 197963a1-0d8d-4471-a1c7-8f1f0deb7521 CLINVAR:1686787 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 803931f8-8961-4d37-a6bd-965114bae2e7 CLINVAR:1686789 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1655556a-3f80-4e2d-838a-75a5537c3e3c CLINVAR:1686789 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5a807d6-030d-4629-ac52-34db65c14fc5 CLINVAR:1686790 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db196a7c-d510-4fa5-aff0-c84f5df568da CLINVAR:1686790 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7431aa0-f368-48f3-8904-fe7784dce984 CLINVAR:1686791 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68e6f7fb-fb0c-486c-bd81-0507f4d9cd4f CLINVAR:1686791 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76587749-ae1f-41d3-94fa-95163d31e22e CLINVAR:1686792 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c92a5794-9447-48c9-9d3a-c07cd18fef8a CLINVAR:1686792 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35c4e9ab-cb99-41fd-a317-c4ced3d5dd42 CLINVAR:1686793 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8e32ac9-33c6-4082-bd18-0234e9f9b45f CLINVAR:1686793 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73be8e60-bfa5-4a74-834b-70b778b25d8f CLINVAR:1686794 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fac048c8-26e5-4aa8-bdb4-d711f2618ed5 CLINVAR:1686794 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7415bc4-6db4-4814-b408-7f5afbddd0ef CLINVAR:917405 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba852bf4-57a6-4f4e-93ef-434a23cff979 CLINVAR:917405 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33891614-c168-49a6-9b32-3311367ccba1 CLINVAR:871739 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 007450eb-8eeb-4556-98d7-8a76ac39e65d CLINVAR:871739 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 994e4d84-f73c-4c9f-b948-c406816ee7e0 CLINVAR:1693221 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cfa14fe9-b367-4838-9ac2-a5b8c66d32ec CLINVAR:1693221 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3b8351e-466c-42e6-b35c-97496f811c0e CLINVAR:420102 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 371768c6-b69e-4f80-861a-274beaa0eef1 CLINVAR:420102 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceaba75e-5c34-4edc-8b1b-9e224bb8521a CLINVAR:419722 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b0b8a025-258b-4c81-94de-30ad3f736a38 CLINVAR:419722 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc86bc8a-1aa8-474b-9d62-62a314ea7fd9 CLINVAR:1693551 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ac31625-bbda-4c57-b33c-0ce8c1117c08 CLINVAR:1693551 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37dd1c6b-f52c-420a-acc5-dcd26481445d CLINVAR:1072906 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2ced6471-32ed-4f13-9228-534543117740 CLINVAR:1072906 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ac085fa-8f64-4d27-8763-4dcee1e53baf CLINVAR:371305 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 998b9622-d4a1-4711-9c37-f5cf48230bde CLINVAR:371305 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73770b95-53d9-48ea-8f2f-53c8acd8c4cb CLINVAR:403712 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 545a75f4-3d61-45f8-a0e8-9ea4e95cd32b CLINVAR:403712 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccf80b1f-ef20-4c03-befa-9cb402890354 CAID:CA658795264 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 684a4a3e-e20f-47c5-8bfc-d68f87aff933 CAID:CA658795264 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1efca599-6b05-4ed7-8a83-e64af8c113b0 CLINVAR:934787 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0851e937-2919-4c84-8195-8da7451efb1a CLINVAR:934787 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb2ccdb9-b167-4cf6-bdd1-531ef34e193a CLINVAR:102819 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41688124-067a-4404-8077-42981c6f1322 CLINVAR:102819 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d6d3119-d8f2-48cc-8335-82cb626fd804 CLINVAR:280984 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96f38f7f-c740-489b-b68f-6a6995c1da97 CLINVAR:280984 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7de121c-a631-4eaf-99ce-34a1adc1aa88 CAID:CA386954977 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 47373345-d799-41d2-9cfa-a66398c386c9 CAID:CA386954977 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91caab05-8cb2-4f37-aa16-363fe3b5651f CLINVAR:1338520 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88264352-13dc-4d9b-9f55-def6e162656f CLINVAR:1338520 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac98a96d-72b5-4269-968b-057f866ba57e CAID:CA386954965 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38657851-3c83-44d7-9129-b9e42b66a317 CAID:CA386954965 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ceb5734-26c2-4057-a50a-d958b00cc6e1 CLINVAR:447491 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6dd4b4fb-9d8a-4f35-9989-e33bf895ce2d CLINVAR:447491 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f809d4a-678f-46c7-beac-edd7f3441449 CLINVAR:447496 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8de4d55c-0a64-47bc-b623-e261d14b685d CLINVAR:447496 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fea6bd88-bd5e-4d74-963c-1d5281219161 CLINVAR:102529 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7a042a5f-346f-4ee6-9c7a-6efc341a6bd7 CLINVAR:102529 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ea6c542-c317-4295-91bc-8861ced004e8 CLINVAR:1693234 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 16eddd93-5107-4209-86cc-de3678863733 CLINVAR:1693234 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8023e1b-f206-475c-856d-3e75c528c323 CLINVAR:102906 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b48f6a7-4f13-4a09-9f43-2194bb3d031e CLINVAR:102906 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e4ee06d-9761-49d2-b931-8f824236ecf0 CLINVAR:102465 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 110aa7dc-61e5-4182-ae89-cbc86c617216 CLINVAR:102465 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56e07f89-e0c9-4346-8493-dc1b9bfc8f97 CLINVAR:102470 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0165b39e-e3f4-4a6e-a638-03991269cedf CLINVAR:102470 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a05c137f-e5df-4fe0-a48e-b88357e8e6d0 CLINVAR:1691455 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 80db01d9-718a-4e85-9f5e-3f65a1c6d67d CLINVAR:1691455 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94860547-b38c-4781-aeb5-0fee447e7b92 CAID:CA16020935 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14982f51-c270-49f6-8823-04dd57dae103 CAID:CA16020935 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40a29ae4-9c52-4c43-a17d-9899990d5ef2 CLINVAR:1691466 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f0c009fc-fb0d-48cd-b5c8-0cb6ea5600da CLINVAR:1691466 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74c34cbb-1ce4-4d25-a4b6-ac6667dc1a89 CAID:CA399792054 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 50d4b013-aefe-45bd-aad9-aae7f4359f33 CAID:CA399792054 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54a11861-e1b9-4097-b2ea-e1f457cf11f6 CAID:CA16020923 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d48d8f06-8d81-49ac-89c3-2384a6ebb7af CAID:CA16020923 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a70e835-47a3-4965-8fea-6a60b6c9b2e3 CLINVAR:102762 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a05607e-e02c-4c20-810e-50efc31ac2f3 CLINVAR:102762 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b767f46-cd1f-4351-b83f-6fb35b09312e CLINVAR:1691484 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f97b1b4c-88b4-4d9f-91fb-a6042a1ad40f CLINVAR:1691484 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b3054c3-4315-4657-8132-7e814f723c73 CAID:CA16020898 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d5ca53a-04ab-43e6-96ae-fbe35223b8cf CAID:CA16020898 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ed9507d-b87b-4b02-8ac4-225b507a0019 CAID:CA915940332 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f89367e-888d-4c8e-b56c-58cb2a795cfb CAID:CA915940332 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c25f3f90-25a8-43a0-b793-53fd029d3d32 CAID:CA399794330 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d786cd46-cb8e-4a78-9c83-56092f1ab7ad CAID:CA399794330 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad15d0b3-06a3-4732-b8f4-adf183ee691d CLINVAR:1691487 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 32cfcf00-34f2-4c3c-ad8b-25be6a27d75d CLINVAR:1691487 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d39318a1-8c5e-4e31-82fa-2b52098bbedf CAID:CA915940323 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77c8e7b4-bbcf-43b4-80f1-f1dbafe2358f CAID:CA915940323 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cae35310-61ad-4c44-831e-9b2838d9bdf1 CLINVAR:1691489 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 285c15b2-57c8-4974-b8b6-5eed61b40ce0 CLINVAR:1691489 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db29bac2-2aa6-4b75-aac7-131cbb365712 CLINVAR:1691456 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8409204-27a7-48f3-a550-a482e7180757 CLINVAR:1691456 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f62a55d-173b-40ad-86da-81590e5c63c3 CLINVAR:1691457 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c8428cc-d173-4a8c-b1cf-ea2b023045b0 CLINVAR:1691457 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecfb6b54-dfd1-40f1-a29a-21d3e29dd747 CLINVAR:1691458 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d39d6c5-b842-4de9-b5f4-bb359c1a3c5c CLINVAR:1691458 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32e07612-72ab-41e3-aff1-a3974cc79176 CLINVAR:1691459 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 41e0279e-95e4-42cd-acee-d3870be0541b CLINVAR:1691459 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14e73d26-ce11-488e-b60c-64b5c4c465b6 CAID:CA626684863 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d227f4a1-d09c-45b7-a612-0462b954edb4 CAID:CA626684863 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e331505-f1ad-403e-924b-7bbfa5bedbfe CLINVAR:1691461 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd7de242-2244-4aa5-9d87-958353b8b15d CLINVAR:1691461 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6202e360-b8e9-432b-baf2-f19b267e6c6c CLINVAR:1691462 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7025f951-b55f-4d4b-b9d3-21d6ce22d4bd CLINVAR:1691462 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3115bd88-4205-4d24-bdf4-570ab516615e CAID:CA399804780 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6db9e896-81f7-4986-baad-a140aac44d73 CAID:CA399804780 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f3769e2-d67e-4ecf-8a32-0ffae5b633e4 CLINVAR:1691464 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f0cfb8c-6e89-4a53-81e6-ad3c8a54826d CLINVAR:1691464 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79704780-63c7-4ab3-9459-b03d445d10a6 CLINVAR:1691465 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e54d8382-0f58-4273-bf36-9bab6a7eae61 CLINVAR:1691465 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b449cde-60a8-47ec-bc83-59f6624df348 CAID:CA915940689 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d51ff94-26c9-4a3d-b5c3-ae568189fbe8 CAID:CA915940689 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 863fe839-99c3-4bd4-b4af-c4f3e53609c4 CAID:CA915940686 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22df11c4-6dc1-43d4-af93-b2848da6ead5 CAID:CA915940686 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a5d1aad-5083-4a46-8b12-facfbf2683e4 CAID:CA915940685 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f93c1238-f1a5-472f-963d-ac36ddd25dce CAID:CA915940685 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a1c32d3-b3b7-4b15-98a1-5aeaec446c69 CLINVAR:1691470 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73073372-1b0f-4220-83ae-a61e06c69d23 CLINVAR:1691470 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f633c62-2b78-432f-b435-6882385716cf CAID:CA500261104 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a8eaf9a-fe66-4fb2-8b14-6fb807153889 CAID:CA500261104 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb90c41d-f56b-409c-bcd1-eee524e4be68 CLINVAR:627290 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a676299d-8714-4783-a677-b415a6baafd8 CLINVAR:627290 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31c068e3-bac2-46b0-a92d-a65eaa0f89ac CLINVAR:1691472 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24b67b58-b05f-4f8e-977d-f541dabb82e6 CLINVAR:1691472 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99333940-1297-4e7a-9741-6c70a7f31502 CLINVAR:812734 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5170678a-96f9-48d0-8a67-66daef6c818e CLINVAR:812734 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0c9ada5-f49a-45b4-ac8d-a8ab956c76ac CAID:CA915940687 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d215a041-80c6-4687-9480-b4d6ce030043 CAID:CA915940687 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5697d01c-abab-422b-b824-452051442ec6 CLINVAR:1691474 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb86c675-07c3-4a23-842a-6ebdae1142c8 CLINVAR:1691474 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d83e600d-d950-4104-adda-eaac22cbea99 CLINVAR:850885 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57816c08-1336-4569-a2c9-7ef1c7cfe9af CLINVAR:850885 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed046296-3878-41b7-a792-18fe26759290 CLINVAR:1691476 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b79ba9e8-2afb-422f-b75f-83e4327bd45b CLINVAR:1691476 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf10f19a-502f-4a4c-9a6c-c08820a08092 CLINVAR:1691477 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a3f735e3-1b9b-4d31-af95-8bc1ebdd5806 CLINVAR:1691477 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4443e657-b742-447f-adda-cc1751372f88 CLINVAR:1691478 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73725fa8-40c6-4a9b-a588-4dbd5f7d1b44 CLINVAR:1691478 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 395f25f2-6c46-43e1-91cb-e50b518d08fd CLINVAR:626980 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c6117db-2e75-4a0d-add5-6fc554a95456 CLINVAR:626980 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 560813e5-fe98-4e4a-b767-1bc24edabad1 CAID:CA915940605 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ad4adae-4f14-403b-8b39-9fed7d74020f CAID:CA915940605 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24435ee2-1170-484e-9393-868eff4c2336 CLINVAR:1691480 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be27f2d8-7efb-4136-94e2-35961f7c9b2d CLINVAR:1691480 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74f1bd59-2709-415b-9f17-29a7cd231914 CLINVAR:430539 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 798a7a9f-54ce-43b8-8bf5-90e320e5d456 CLINVAR:430539 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e9aaee7-a074-43b1-be14-8975a89a8f8d CLINVAR:1691490 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 81cf8f5b-ee20-4cb3-8437-6647f924ac21 CLINVAR:1691490 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f57bd1c-1b43-4954-9a69-d4df0844c7c3 CLINVAR:1691491 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d60edd2-39d7-4919-b6bb-382c34f9ae78 CLINVAR:1691491 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 930102d0-a156-411c-bb08-1f6275156a3c CAID:CA915940808 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45ed214b-d6c4-47cd-a062-59c7d1a7c49b CAID:CA915940808 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd7d3db0-1f22-4f05-9938-0a19c8a590c5 CLINVAR:1691482 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1803c3a-bf83-4f69-b9eb-5c29d2fb2117 CLINVAR:1691482 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7beb698f-18ed-4518-8903-e93e987bf52c CLINVAR:1691483 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b1b8ecc2-fce5-4ff4-84e3-7e07b49dda91 CLINVAR:1691483 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 182e9de7-87e3-4ac4-abf7-81f9e1a32558 CLINVAR:102737 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 996c60de-07d2-443b-a054-af7d9a23c57d CLINVAR:102737 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 945eee63-1d22-49e7-8b79-3b24dcaf3d00 CAID:CA2573051040 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac955500-8a4e-456a-86a8-88e7bd3e181b CAID:CA2573051040 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bc7aa6a-e078-4994-8da8-8042af5bc61a CAID:CA2573130154 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3fbca241-6463-489e-808a-3db994f821a9 CAID:CA2573130154 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6132dcab-f439-405a-8445-9593fa80e0fd CLINVAR:1013621 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d3910f6f-9c81-424d-b0db-2669d4665d06 CLINVAR:1013621 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a367e88-ad7c-4abc-b528-155ae92e07f9 CLINVAR:988835 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29b04c58-dd16-4457-a089-0b830b5b798f CLINVAR:988835 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c1b1ae9-0922-4ecc-9111-8fb1c1726cea CLINVAR:812739 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e4c4333-8faf-4da4-990a-78c8e4413906 CLINVAR:812739 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d1f886b-85ed-4bb3-b4e0-25a918daee3b CLINVAR:1479078 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eac855ab-118b-46bf-a35c-13fc7d800a56 CLINVAR:1479078 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d08a69e-44dc-4d8c-a8cd-ce0cdd028172 CLINVAR:1693219 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42bb4f68-7cb2-469f-91ed-5789be035c84 CLINVAR:1693219 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fcb145b-a2a3-4832-b955-bde27600b8cc CAID:CA2573051300 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cf173601-015f-4c8d-b74d-409b5ff478e0 CAID:CA2573051300 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 643e2bfa-6629-4c2d-b456-a2a9fd01ae42 CLINVAR:143485 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0cce8cfe-d9cb-474c-a3a6-7aa07e518765 CLINVAR:143485 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae8bfe35-fcd7-4e32-b920-3f385e725ca8 CLINVAR:143345 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d06e936-123b-4d78-be21-0449f6d7f2c9 CLINVAR:143345 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb8ec3de-ff63-4ab5-867c-5f224555fdc6 CLINVAR:11835 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8dcba888-a3fe-4254-8731-c3eb95a1d83b CLINVAR:11835 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c0e78de-7783-481c-a944-5931bef32ed9 CLINVAR:11809 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 588cc82f-79b0-4635-a257-d3cc8b0d012e CLINVAR:11809 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da001e59-85e6-4e66-8883-c041c23f7e12 CAID:CA915940209 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 776f222f-2331-4eaf-a226-8940376a8823 CAID:CA915940209 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8330f464-70e6-4f14-8dd4-771ceba5231d CLINVAR:102537 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0fab1519-f84c-44ad-b6c0-cb508973478a CLINVAR:102537 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10e38288-5da7-42cd-b5dd-53aef6e8bdc2 CAID:CA16020907 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad82081c-e31a-4b27-b6cf-e46f8dd6ff58 CAID:CA16020907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c43c067-e9cb-4c59-a837-7f37db7c3c9b CLINVAR:102920 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 186d470e-2e0d-4f87-96ec-c11a6b1a4d17 CLINVAR:102920 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 512bdb7e-dbb9-4f09-b689-99a67341b0f5 CAID:CA16020796 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a46ec3b-f3ab-4abe-8ae4-970b7c3c41d8 CAID:CA16020796 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c67216be-2cdc-47cf-8148-d74c69668830 CAID:CA16020744 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a129c2c9-6a07-4219-9ebf-6a2f77316196 CAID:CA16020744 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8445f5e-883a-4369-b381-ea9d60ea83f6 CLINVAR:371373 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen acb0d52f-09f9-4500-98e5-2268114a57c4 CLINVAR:371373 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65c8f0cc-5e1f-4ea6-bc60-b2be16fac651 CAID:CA16021007 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d6fcf044-e6a0-43b6-a6b8-d8a6abe5f3dd CAID:CA16021007 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7568ca03-7791-4c64-b030-9eb22d3463ad CLINVAR:102615 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e87eeb1-0e1d-4ab8-b551-a230e6ef6be4 CLINVAR:102615 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47d171f1-f5a3-4f73-b6ec-738d70560561 CLINVAR:102622 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52c68ff7-fd44-4444-b90c-7241324b1e12 CLINVAR:102622 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86406575-b798-46a3-8346-c14adabf2a27 CLINVAR:1699992 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ed49ce0-6746-4f7b-b37a-b367bd69433c CLINVAR:1699992 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c681f211-219f-44d2-9ca2-fb7e25179468 CLINVAR:189082 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f73679e4-ee60-468c-bb64-b82115d0a8c8 CLINVAR:189082 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3f6a361-1826-4a84-b293-c73e952a5fde CLINVAR:1693549 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d022ccf-cc9a-48eb-9672-bb22d5b6d93c CLINVAR:1693549 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8b88826-deba-4c8e-844b-862eba15eb23 CLINVAR:556117 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e3ca8a29-cd79-4f45-b929-07afc438ef3f CLINVAR:556117 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fdb271b-212a-4f2f-94b0-d93f6d4a441e CAID:CA401325305 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d127cbc-4c4c-48cb-9bd4-5a766f047f8f CAID:CA401325305 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6374a478-85f3-4485-b9fe-d80b04a39a93 CLINVAR:988811 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4b073c76-7f19-416e-8692-105ea08f8bdb CLINVAR:988811 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3676eb0e-3bce-4fce-9f4b-5e172ac66731 CLINVAR:1396349 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d456506-8d8f-47ef-bf8a-4ec9f1e583ff CLINVAR:1396349 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ac5638e-bbb9-4203-916c-65417c563676 CLINVAR:9647 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe22f2c1-9e49-4193-8a97-61e5d4fd2781 CLINVAR:9647 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a283720-73fb-43f0-8690-2146a2e1324e CLINVAR:9644 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1be4ba6-855b-4f40-8519-f96af7ae2d1c CLINVAR:9644 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57eb2385-49d1-4b07-a6b4-24b0cd502c6c CLINVAR:425040 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b209d8c-4c84-4757-bee5-9183f69ff532 CLINVAR:425040 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc4b5d1f-acf1-4fce-9e6d-78c07451cd59 CLINVAR:207248 biolink:causes MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dfe55dc9-d5f1-405a-9398-1ce018af1a36 CLINVAR:207248 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e406abd-3c6b-47a2-9a61-28fa3a946353 CLINVAR:236302 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7c207e38-86a2-4438-947e-2bf81e48021c CLINVAR:236302 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9551775c-1f8d-47fc-a935-15236846eae2 CLINVAR:167092 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 680198cb-27e7-44ba-8930-933ac8e591f8 CLINVAR:167092 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a50d891b-5540-40b8-a854-b610f9282800 CLINVAR:160079 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 503b6c4b-d9e5-4517-894d-60d9835088e6 CLINVAR:160079 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70ab8b80-117d-4750-ab69-1d53b8d88865 CLINVAR:9646 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 71ddea6b-5b62-4fe1-b6f6-a08ec6f1e84a CLINVAR:9646 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2571f10-4438-4a04-a18f-079eaa88a10b CLINVAR:65921 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd00a793-415a-4363-9ad6-5d8e40b71e35 CLINVAR:65921 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd9c0f75-9390-48a6-a901-a500dd06e26c CLINVAR:986501 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17eac8d9-ee41-427a-a860-725483fffe9f CLINVAR:986501 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5b25c0d-5a24-48f3-9b93-065e602037c1 CLINVAR:217366 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ef90692-52f6-4402-ab22-7ef959345ee8 CLINVAR:217366 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4b29133-a810-4b37-aeda-3f036024b346 CLINVAR:217365 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3252f6a6-45fc-4cde-ad6a-0ed01e45a2ed CLINVAR:217365 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6f57280-376c-44ab-8401-9ada896972f0 CLINVAR:160214 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 638cd315-3024-47a1-8b4c-be14d2ad477d CLINVAR:160214 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68503f8c-7cdd-48fc-ad88-7748ad303b96 CLINVAR:156677 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 713f595c-92c0-4d09-ae3d-6fc220591563 CLINVAR:156677 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b6e243d-9c40-414f-96c5-13331eab515e CLINVAR:156120 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d408c67a-c209-4a04-b904-91ca128907ae CLINVAR:156120 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 734a3f26-c506-4900-802d-c180dde4ea70 CLINVAR:1693553 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 010de73f-bdc5-483d-8a1a-5fe5b5469124 CLINVAR:1693553 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c815abe-0dcc-48b5-b748-d8cf593b2c25 CLINVAR:143738 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0d6edb1-bb42-4972-a5f4-056be6a1a9ab CLINVAR:143738 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55ae6b38-df88-4ed3-b495-87cd15889f39 CLINVAR:156124 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7373663-86da-442c-b3b1-a933c437d3bf CLINVAR:156124 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0041270e-3ea5-45a7-806c-795851af2b13 CLINVAR:191364 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 099e4fc0-a8c4-488f-90b1-2586d819b1a8 CLINVAR:191364 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01eb6263-ef5b-4c18-8700-ef6e907c5704 CLINVAR:1066009 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2af76e2b-0599-4a7a-9471-f918cb739ea0 CLINVAR:1066009 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d34f9f5d-760a-473d-9f8e-d8085e1f9146 CLINVAR:155881 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7b88ce7-a712-43c8-94d6-1b465b9be75e CLINVAR:155881 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbdfac83-7d6c-491a-ad3f-5003d3a208f2 CLINVAR:9698 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f4ccf3a3-333f-4516-969f-01d0fab2dd2e CLINVAR:9698 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78ec34cc-0fe0-4610-b709-8a256c1beead CLINVAR:9691 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e40f497-6879-4e8e-bde5-2f203bdab41d CLINVAR:9691 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54d71e6b-ba43-452e-a226-75c191715144 CLINVAR:65515 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 89cef253-8711-4c8d-8a4a-60323c412aac CLINVAR:65515 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5880526f-ab12-4cd3-9b36-93771a59ae0f CLINVAR:9732 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8120fd2-3b8c-4042-973d-a3674dfcf57b CLINVAR:9732 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcfb1a88-5d14-4f11-becb-e158bea50445 CLINVAR:155889 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2065a968-9057-4957-bb2c-64316e082aed CLINVAR:155889 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba2affb3-1756-4d56-bab6-4484ac30187b CLINVAR:9693 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 195feb5c-db86-4b1f-8ae4-a9ef1efde8af CLINVAR:9693 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba1ed81a-a864-40da-991d-e1332195a0d4 CLINVAR:9711 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1f4cdff-7b7d-4193-a3e8-ee4dce2600a4 CLINVAR:9711 biolink:is_sequence_variant_of HGNC:7459 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 922654bf-b17d-474e-a6f7-2a4e8117f824 CLINVAR:9685 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8313aa43-a5df-4c3d-a627-ef949bc096f3 CLINVAR:9685 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 498f9f2b-6bac-45c6-92a7-db9305e32eac CLINVAR:9692 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e60435b-edcb-4ec5-b3c8-436b3aadb8c1 CLINVAR:9692 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04a6f565-a7c0-44fc-9e11-514647b81a58 CLINVAR:9548 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 378d0f94-4aed-4289-b5a4-d241c70f6a4f CLINVAR:9548 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3933dd2a-1a94-4c48-a571-b18ed21867dd CLINVAR:9576 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 041adbf8-78a9-4178-b3a1-ad9e4811f18a CLINVAR:9576 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3809dc04-8ee4-40bf-a799-e9b00fcf3131 CLINVAR:9731 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 226e583c-0f56-4e1a-b8e9-736785d36934 CLINVAR:9731 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6fbc2eb-659a-4d61-a5a9-900c1c1a7578 CLINVAR:9703 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0896d381-028e-4a2a-a3bc-ee652578bfc3 CLINVAR:9703 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 351e693e-ae0a-4882-9387-0bea8c8fce18 CLINVAR:690280 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c4a8bd1-411f-4a1f-aa4b-943d7cb0fc7a CLINVAR:690280 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c0ae29e-9274-4a58-a0da-22ef96be7ea3 CLINVAR:9708 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9991ea6-d17d-4851-9dae-bad411881ada CLINVAR:9708 biolink:is_sequence_variant_of HGNC:7459 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fad6342-6d2e-4e6f-9ee2-4bb47baae590 CLINVAR:9640 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b82f49d0-4676-4b46-957e-0f2a6acbdc21 CLINVAR:9640 biolink:is_sequence_variant_of HGNC:7415 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06b648bb-cf16-4aa4-97ad-49757d51bec7 CLINVAR:988857 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ab6400d-d9c4-4c80-a5d7-167a8576c34e CLINVAR:988857 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d529aa31-402a-4ea9-ae27-84a645f59fb7 CLINVAR:226334 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 19adaa27-b4b5-49e0-8d60-a9ed57c25879 CLINVAR:226334 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb9373a6-b412-485f-8af7-9cfb3272a956 CLINVAR:251456 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c51f900-547f-4acf-b92d-dd6c4578690f CLINVAR:251456 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb56a961-53a5-4d64-a34e-bcf3808773f6 CLINVAR:251457 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6906ad8c-59ab-4c1a-bcd4-ac77949ef55e CLINVAR:251457 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b4f6370-2a2c-4ac7-b2dc-4f59eca88462 CLINVAR:251458 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 402c48e1-358c-4bc3-aebd-8a053d8b71c0 CLINVAR:251458 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b06e613-4cb0-4a76-a99e-e8a96b749c1f CLINVAR:251488 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84b01287-2955-4929-a726-195b03f57ae1 CLINVAR:251488 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76640614-4c06-4579-8683-e5e5b588aa6a CLINVAR:183101 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3175312e-8886-4b0f-a94a-8390b65dabf4 CLINVAR:183101 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bef0ca13-7a74-4e72-92ba-18b2b4b16b5a CLINVAR:251903 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4411b85e-a5af-4716-91d9-82d63a9b8d1a CLINVAR:251903 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61a90bc8-3756-47b2-bd37-26d965e59c03 CLINVAR:496019 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8aad8c80-9c10-4162-856d-8d807b432c69 CLINVAR:496019 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84611657-af00-47f9-8cbe-15a28c33f5b6 CLINVAR:251904 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02cf5066-5a48-43e7-ab08-8c75c30ab2db CLINVAR:251904 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38237606-616e-4ae8-ad09-edc68b4557c5 CLINVAR:431531 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08166a36-b26b-4d30-8199-419cd2863666 CLINVAR:431531 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00f02f8b-a0c3-41a1-ac91-a4e4536c7274 CLINVAR:3686 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 657e66df-01c2-441d-b503-1ba75b2a41cb CLINVAR:3686 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd2bc4f6-bff4-433b-8437-e2050a9d71dd CLINVAR:226329 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 20a0afc6-f278-4288-87b5-09895bfb0dd1 CLINVAR:226329 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dc972fe-c422-46f8-ad97-52fe2bb7a629 CLINVAR:251356 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e379dfc0-99f6-4401-a9e8-da26c6c865c3 CLINVAR:251356 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ae519e1-5279-430d-8a1a-8881cfad8db2 CLINVAR:183092 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a2aec393-25cc-43b1-8b46-7a516c8ae48a CLINVAR:183092 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 812e87c0-0273-41f8-9ffd-a8331d46b5b5 CLINVAR:161286 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b14ac582-5bf8-4d4d-83ad-4ba6b44b3676 CLINVAR:161286 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3054866-bad9-42e2-9a6f-ed357b92a014 CLINVAR:586794 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b9820992-97d7-447e-992b-e286b2a619df CLINVAR:586794 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 818602c4-045d-46d8-b358-e725d01096de CLINVAR:1700000 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10deb179-16aa-41dd-a6c4-fc781bfa5164 CLINVAR:1700000 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b74e1ede-4998-47bf-89be-2f306f0a1dbf CAID:CA2497030023 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77b72c26-bfbe-4412-93f8-f15f666bcd9c CAID:CA2497030023 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afa69465-b2e4-4f42-bfa5-e4445faa122a CLINVAR:1315998 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba97a3a1-541d-421b-b630-b9eb25bd3e21 CLINVAR:1315998 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e3b2493-bd8a-4c5e-8934-3eca75e659d9 CAID:CA2573051042 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3f1562ee-f8e8-4038-9cab-253562ac2644 CAID:CA2573051042 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fb00f1d-cfcf-4b3e-a33c-145a09b17898 CLINVAR:14931 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb36672b-1286-4fd9-ac04-ce893bc3761a CLINVAR:14931 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e132743e-d33b-4250-8865-fe61b905d971 CLINVAR:627101 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75580034-0309-4d13-9926-a69696b098a8 CLINVAR:627101 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e510ef3d-1f67-4d4e-8d7d-52762af2d0c3 CLINVAR:561235 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d68956d9-f626-4dbe-92ac-b7bfc1f0162c CLINVAR:561235 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdd6fc39-efbe-4396-80b5-9828ff635052 CLINVAR:1194557 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f7f1c4c-5c4e-4b61-9411-46e775922ae9 CLINVAR:1194557 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1f27a92-3249-4162-8928-84d6cbd83bee CLINVAR:1488717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22cccd10-8cd3-43ba-b759-b19ce19e4b35 CLINVAR:1488717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d89703b3-534c-4ea4-98bb-9a4926422e8b CLINVAR:1073521 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f6a8b8c-6182-4d84-b121-f9dc28d0aa54 CLINVAR:1073521 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffac98d4-6da5-4b0a-9602-bd23ec4f7f14 CLINVAR:943551 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc466a68-efc5-4617-a1b3-dd27b7398b15 CLINVAR:943551 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb2bba4e-71c4-4708-a0ed-6bdc8349e63a CLINVAR:561225 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 424cb653-5cb1-4449-8aea-dffbedd4163a CLINVAR:561225 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71bdfb8b-e234-47c8-b5e7-330963d87cc1 CLINVAR:1459069 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60d9b16b-44e7-44b1-84c5-45f1b1cf50ed CLINVAR:1459069 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aae4118f-bd3f-487d-8940-c2ff1ebec5bd CLINVAR:666187 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0810414-f9d4-4505-8d0e-1136b1ba6637 CLINVAR:666187 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6521893-d385-4b99-b7d5-25245a840346 CLINVAR:532666 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14cef413-0ac7-4814-907e-e55f25dad6aa CLINVAR:532666 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e50f0ea-a1d1-403d-9e77-1acdc28d67e8 CLINVAR:660838 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b869329-33c5-4128-892c-b7cf53eba2fb CLINVAR:660838 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 896a284a-151b-42e0-8fee-33d6ca778964 CLINVAR:843935 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f79e12e-c8f3-4654-a0b9-ba577974fc3c CLINVAR:843935 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c7b1b80-67e3-4ceb-bc32-b3aea889fffb CLINVAR:861043 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b241c308-3614-49bb-ae1f-99cd38b7d477 CLINVAR:861043 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aab4c929-a9a3-4f6a-8a08-becd7421774a CLINVAR:898729 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7054fe06-9ba0-445e-a4d0-ebb7e4171427 CLINVAR:898729 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32d95e4c-7757-4d98-bcac-fb387c10b2dc CLINVAR:747644 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 426d6af5-bc86-46f9-ad0d-d10cdfb99518 CLINVAR:747644 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2204d34d-21a0-4fb9-8026-399cc1c4a7d0 CLINVAR:1069299 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 728bec10-fd72-4471-83d7-54754d528386 CLINVAR:1069299 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8ed008e-fc3f-4469-8dde-7041ea5af575 CLINVAR:1076589 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9cab1b89-bde6-412a-a33d-21de8975315f CLINVAR:1076589 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e4fa275-628f-43b2-aca2-230318695608 CLINVAR:239058 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6bda291a-5dad-4a59-9537-c2db444cb283 CLINVAR:239058 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2946a11a-8d19-4213-a2ce-61a0e2fcb7a5 CLINVAR:1165599 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e686454f-2412-4382-a55f-9621550ca877 CLINVAR:1165599 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd415fde-0a8f-4f1f-a03d-af8c17165631 CLINVAR:812740 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d59b8462-8dcc-41d3-8e0e-74581ba88425 CLINVAR:812740 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66bf2507-702e-4457-bc0b-e059e95e376e CLINVAR:1013620 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba42d47c-fb5a-454b-9b7c-8f1ef074071b CLINVAR:1013620 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd8b9e45-2419-4659-8deb-6cf775c48b13 CLINVAR:580539 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c7683a4-91a8-47ca-bf00-86f3bf64216b CLINVAR:580539 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c7a8fa6-f591-4853-b206-9c04ab00e421 CLINVAR:941820 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd61cd99-e9bf-4b7b-ab0c-362f94c63668 CLINVAR:941820 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c65194d0-a944-4050-bcb9-e5b4cb151171 CLINVAR:1000131 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0180be21-ad6b-4309-bad4-bd0b241c2823 CLINVAR:1000131 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 224e45ef-1415-42bb-81d1-a8a2b3d55424 CLINVAR:463976 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2a5bb93-dba3-4764-a49a-06c83ea9d041 CLINVAR:463976 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64d5d4a1-3ee7-4154-a336-020228f4c240 CLINVAR:706138 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ecb1803a-dc7a-4c02-9a74-e06d5e4e9c19 CLINVAR:706138 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95b92ea5-c51d-4329-89d5-3b98370cf11e CLINVAR:1012038 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33ecac37-b7f8-44a1-a1d2-bb3c2e6f3937 CLINVAR:1012038 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cff13add-cf07-4625-9972-1a64a791f71a CLINVAR:627081 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3e425874-adda-4e73-8b4d-d0bea93922f0 CLINVAR:627081 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80a3d0cd-c8cf-4503-b35e-3fc87bd0b44b CLINVAR:4468 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40ca6755-1466-466b-b408-b11eb05a1041 CLINVAR:4468 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63544fee-bff3-4800-be37-4a5066a4f0aa CLINVAR:690480 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28f7ca71-923d-455a-8449-b5468166987c CLINVAR:690480 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d78fdbd1-5b40-49f8-9e03-c148e84f66b9 CLINVAR:412119 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 35932a20-fbb7-4f99-885f-9e4cb7b05a10 CLINVAR:412119 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 133bfd86-898a-485a-b578-eb100acaf347 CLINVAR:254350 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 63dc395b-1d93-4156-840f-3ef8769069ed CLINVAR:254350 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da7887e3-b9c6-4f24-8e23-95d7cd0b43a3 CLINVAR:690454 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 83df5a34-1c86-421c-807b-d9f9c89f1870 CLINVAR:690454 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6570a78-5b13-4fa8-994d-1dc6e1a4e021 CLINVAR:254344 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe959d24-29e2-458e-b514-80d0c801b67e CLINVAR:254344 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b8c43d8-d13f-4f8b-8afc-1d730abe9d89 CLINVAR:254287 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a16c4a65-3c57-4237-9e40-98512a450687 CLINVAR:254287 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99a8de8b-a1a0-4026-814e-e059f0f8a0e1 CLINVAR:429113 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 20a1aae8-de70-41b5-88c5-3ed05672fec7 CLINVAR:429113 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f8ab351-1999-4e93-a84c-43c1ae3d3fad CLINVAR:254298 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2dbec926-22f4-4ba5-bcc6-ddd2e92ab3f7 CLINVAR:254298 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8e0b523-2f08-4cdb-8220-1f7fc445aaa5 CLINVAR:254355 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d9deb46-0c82-4f3d-8be1-43864cdf6cd7 CLINVAR:254355 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32f04fbb-7faa-4a92-a032-269619d0fcab CLINVAR:254310 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63516bdd-f519-4e59-a25b-8d70980446c2 CLINVAR:254310 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8fc3576-2b74-45d8-8bb5-de88db5f8327 CLINVAR:429148 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e13508a-80be-426a-86da-5b85264f0979 CLINVAR:429148 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 140444aa-bdab-47e3-b958-6de000d6904e CLINVAR:429116 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 278cf3bc-62d4-4154-86bf-4187a20209e3 CLINVAR:429116 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9717d5bd-bea2-4dfd-952b-b02f6b5b8509 CLINVAR:477261 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b265cb3-8d73-4f21-a7b8-cab68127cebc CLINVAR:477261 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 715dfb06-89b8-4e0f-bc75-f5d92f80b163 CLINVAR:436614 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3a1b2f1-ef56-47d0-aeca-11aa58f3d4f2 CLINVAR:436614 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4db8f355-428f-45cb-a7e5-808dd204a4cc CLINVAR:627384 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13b7c576-4c49-4d1b-8931-eba9cefd4381 CLINVAR:627384 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 108bff13-4d55-4cdb-ba35-177a0dee6acd CLINVAR:575111 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62d3651d-ac1e-4df9-80a2-9e6d25ea922d CLINVAR:575111 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21d3d08b-c980-4339-96d8-94b201b00d05 CLINVAR:1695375 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 762b9406-3a4a-47df-9e60-3e5f9db8f923 CLINVAR:1695375 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46abc103-fcc1-433d-afa7-0b7a718718b6 CLINVAR:464008 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01cd1375-0741-4aca-a9cf-067a81e9f65c CLINVAR:464008 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd24e9da-5208-44cc-bf5c-857909ac458c CLINVAR:574330 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f76ce1fd-2b8e-4054-a37b-4d9ff0dc4f4e CLINVAR:574330 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6b1b321-c2d4-425c-b303-2c17bf0d8f1f CLINVAR:580203 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e9190d1-4e26-49fc-8914-cb7e169c0ed3 CLINVAR:580203 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d146d84-7dfd-4a80-9ed6-538baf508cd6 CLINVAR:650411 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85ac6415-f6ff-4c81-b6ff-cd7821db474f CLINVAR:650411 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8c2d6c7-62a6-48fd-ada1-d0b237434cad CLINVAR:566588 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57bcd222-ce01-4753-8b82-ab797be31b72 CLINVAR:566588 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b20f8b7-09fd-4720-a57b-8e09039e7b9e CLINVAR:649946 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ae328ddc-c27d-4dc2-8899-8808ac303085 CLINVAR:649946 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c51dffa-3e23-49b4-bba4-f2cc096eebe3 CLINVAR:392183 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 852fcc75-ad67-4169-80de-a459a624a8f1 CLINVAR:392183 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 343f170b-43ff-42ff-a845-5368c20c7809 CLINVAR:242130 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d93d085c-e9c6-46d5-9725-8b1fe9443cf8 CLINVAR:242130 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d833ed9-647f-47dc-99e2-434c27cc32e9 CLINVAR:947388 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8bb99b7a-4ca0-4473-94c0-54a357ea3fd6 CLINVAR:947388 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e53a71e-1938-44d0-a673-bb34bbdd48f6 CLINVAR:412120 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 697fbc73-6471-4d1f-9d13-0b3848b01f64 CLINVAR:412120 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4639ab7-eec7-488e-a0d2-290a149040b8 CLINVAR:242076 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ee698db-42f3-4318-97b9-a589f7b1d398 CLINVAR:242076 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 304c94f1-e281-47d0-ba36-0189945a4eda CLINVAR:477260 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee164570-ad9e-441f-965a-8aadcdd40745 CLINVAR:477260 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aeece1e-8d4d-4cd2-97f5-bf171fb0864b CLINVAR:690445 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc36b658-d2b8-4ab6-9ff4-cbdeecc05677 CLINVAR:690445 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ce79721-25ba-4338-98ef-9c82f39f020b CLINVAR:133202 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6906154c-14d9-4c52-9ef0-b3605a60ab63 CLINVAR:133202 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c71f10cd-c70d-481a-9bcd-65890ba782e0 CLINVAR:478159 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fcd1bca9-ed80-4627-a54a-23178c5575ae CLINVAR:478159 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50bcb8a9-e6be-4d78-b627-5e8d3372c2db CLINVAR:133174 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cbb84a77-a59e-4bc0-bb0f-2f96a1b59b87 CLINVAR:133174 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d416a4a-849f-485e-a76a-65b7d91810fc CLINVAR:65981 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ace81d8f-44ce-4222-9c68-d9be1c645e7e CLINVAR:65981 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be573fca-48e1-48ba-8027-78c1f41205c2 CLINVAR:133028 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b373eca-bdf9-446e-9742-5c30bb28fdcf CLINVAR:133028 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cf6807d-b3f4-4d20-a078-2d219d58251f CLINVAR:133012 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f5ff5f7-10bc-4eb1-9d51-35ae27c0fe27 CLINVAR:133012 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e105c29f-ef62-41b6-abc3-8eb064d9bc16 CLINVAR:133098 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18eadfdc-5546-4c79-b857-f50eecb56670 CLINVAR:133098 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bde141b-d74a-46db-8a97-ac069537f049 CLINVAR:133074 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4b3b8bc-ac49-494d-aaf6-6491a0f6f0aa CLINVAR:133074 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0fc56e8-507d-4129-a22d-0732fe751f49 CLINVAR:133072 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e357e786-a774-4c6d-bf61-a5274d55d4c7 CLINVAR:133072 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dd5e525-2422-43d4-9cbf-e0cc26f459ae CLINVAR:12978 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 030d0603-4c4b-454e-8d7e-5da89aa85083 CLINVAR:12978 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c019cb6c-b302-4180-8537-3cdbb4c1cedd CLINVAR:133240 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cf1c8b57-d498-4657-935c-7bf285e72c16 CLINVAR:133240 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fcf9f8d-f23b-4a95-9945-912d9b6082c0 CLINVAR:65980 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52415b42-ef2c-4f24-8911-7b0e2f5efd5e CLINVAR:65980 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e222a5c-a55d-4d6f-bff2-73441fd8a3a6 CLINVAR:65979 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c585ce8f-2311-4d18-b75d-f871632ca348 CLINVAR:65979 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ee33d3b-4268-4865-86cc-b4af78e10351 CLINVAR:12966 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3cf04e14-5e2d-414a-9cc4-20cf9b79b197 CLINVAR:12966 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8edaf9e1-517b-4313-a22b-ef3157d1384a CLINVAR:12970 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 592ceeba-2833-4ab8-a689-167ddf9a801f CLINVAR:12970 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18a76767-b130-4737-be4f-410a932a1c39 CLINVAR:133189 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43621049-b66a-4add-8717-9f50522bcd96 CLINVAR:133189 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 705fcb38-5b20-47ab-b411-ac8fd8a7c08b CLINVAR:133183 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21d34f08-5582-4d11-ac04-472a19a93c87 CLINVAR:133183 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cea3948-9db2-431d-bfa3-b36cad175ad7 CLINVAR:133180 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 646fe7c9-b419-4903-9923-e61222788188 CLINVAR:133180 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c53fc7c2-d4b2-4b28-8949-11e92d64d5a2 CLINVAR:12965 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6bf500de-a227-445b-801e-32446906447a CLINVAR:12965 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d89c93f-6ae0-4553-b43a-6ba46aa53d92 CLINVAR:198090 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f1a6d97-eec7-4f98-bf41-0a93db30cb72 CLINVAR:198090 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f713e1ce-65e9-49dd-b867-7e77578377c2 CLINVAR:448981 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f711d0c6-acf8-43f8-b638-db1f573b5acd CLINVAR:448981 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95018e7d-92f5-439b-b4a6-21e79202438f CLINVAR:932849 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 11bf7810-255b-4d1d-b6d2-2955506eac36 CLINVAR:932849 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen feaf98e5-763d-4ac9-92e1-809c745320cd CLINVAR:932850 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9386fe5a-6106-4955-8c86-b8820e53b838 CLINVAR:932850 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 372ae8c9-6da9-45ef-9816-d16507318aad CLINVAR:840694 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen daf91c6e-27d6-4142-ba31-7ee401b72d5f CLINVAR:840694 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d440dfb5-0428-4872-bb00-29bfb13a3f0b CAID:CA397723954 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42a338e8-adfa-4c52-bc89-cb1eff488830 CAID:CA397723954 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d33f9c50-4e8a-4439-901d-5269a46eec0e CAID:CA1139768925 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3198c4d6-c00e-4256-aa45-0ddf6f87c43d CAID:CA1139768925 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4c514f9-527a-44b5-b605-d329594c4350 CAID:CA16020958 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df0ea81f-5f5d-404f-b580-27ba1ab1b532 CAID:CA16020958 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9416039-5aaf-4788-aafa-78e1d767c867 CLINVAR:102522 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a33603a0-bb91-4e0f-b077-63b3de8db462 CLINVAR:102522 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f55b2d25-f967-4fa9-8a72-e0ec6770e70d CLINVAR:102524 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b89e7ac-0862-4264-87a7-23388f0dd4b9 CLINVAR:102524 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 867d93a5-5847-4949-9f33-e4b1af48cf36 CLINVAR:102548 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12c13375-b09c-43ed-836a-77c1cd1e4da9 CLINVAR:102548 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 023e21f3-b9bf-409a-89db-ad7ff99b936e CAID:CA386304006 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb00c511-3c51-4f2e-8abc-e4725e182a71 CAID:CA386304006 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b59961eb-5787-4a8e-854d-c65f492da83b CAID:CA16020928 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a7f94b8-8af2-4749-aa1d-5252a0fe1905 CAID:CA16020928 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51ef4f81-fdc9-4204-86dd-134e00113abf CLINVAR:102855 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37b3ea7d-4c17-45fb-85f7-786ca2e2ba27 CLINVAR:102855 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b23a920f-54b4-489d-a73e-0881bae18053 CAID:CA386493446 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff109386-d031-487b-ba1f-fab2828756b5 CAID:CA386493446 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1addfff-5708-49c1-9b10-6e75a43d1229 CAID:CA386493436 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f919cd0-4f31-4263-9994-9ea3c7e48b94 CAID:CA386493436 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79e1f430-4285-4a57-b3ed-b37ae7b83016 CLINVAR:164401 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 710ec4a1-b308-4166-a26c-260ca6c38f3a CLINVAR:164401 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68ef05c3-3ff4-42ab-bf6b-cd96bae58509 CLINVAR:43098 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c4145c8e-af55-4a3b-aaa4-bb54b9a4993b CLINVAR:43098 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d0884f7-3a86-4745-9518-c8f63925286b CLINVAR:177627 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2fc0d2c8-26b5-4628-a5c7-306cb4f2f067 CLINVAR:177627 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27297ddc-ccb3-4846-9704-79e0f6a80edf CLINVAR:181267 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a41b9986-073a-4162-9dc9-1041910a3c0b CLINVAR:181267 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 989c1c78-c93c-4756-bbf7-98050a603246 CLINVAR:42834 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e6494ba-4c9d-4bc3-ab70-4f7bee5c8384 CLINVAR:42834 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 252f9faf-a6e8-4cb3-9bf3-3398575cb872 CLINVAR:228918 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68c55612-bd74-4ec0-b9e1-3e5ba5605f4e CLINVAR:228918 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afc45c5c-df7b-468d-9068-eae3178553c9 CLINVAR:181349 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d3d66c3-4b7f-4302-aa07-b0233ea79834 CLINVAR:181349 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa2f5ec9-b392-4c00-bfcb-d657940eb48a CLINVAR:42912 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51364ca1-2eb5-4f7f-873c-6cccc9f2a928 CLINVAR:42912 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65a21dfb-4651-4d84-b171-5cb9bb5a7387 CLINVAR:181202 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d25b149-c5c6-4764-b5e7-590370f64a21 CLINVAR:181202 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 979eba21-98a0-43e0-a2f0-34cf2e2364df CLINVAR:164351 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bac0628a-dc77-41ef-9430-e21c40fd990b CLINVAR:164351 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efd8afbf-d89b-4c9e-be14-66f9dd47a93d CLINVAR:43110 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb574453-7c6e-4732-931b-3a0f03892eb2 CLINVAR:43110 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e91292d-030f-4d0f-be4d-37a700d3f373 CLINVAR:181324 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 621d2194-ccdc-491e-b082-0b88f7f59256 CLINVAR:181324 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3d64683-7354-4c62-b889-241fe726490f CLINVAR:264607 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fb0199b-14d4-4449-857b-dc61e8e16084 CLINVAR:264607 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e43da10-2e33-4645-a057-f95846846991 CLINVAR:43196 biolink:associated_with_increased_likelihood_of MONDO:0700087 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c5b8b36e-3101-428b-9b73-fbc6cea77fe9 CLINVAR:43196 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06756fff-b8ad-42de-b52e-753d21785104 CAID:CA1563057 biolink:associated_with_increased_likelihood_of MONDO:0010986 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b67057e3-8f5d-48f7-8bdb-d14b380d5ee7 CAID:CA1563057 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7197c191-f778-4fe9-a452-21b43de15b07 CLINVAR:1699993 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e086678-cbaf-4f71-b3de-4536d3532789 CLINVAR:1699993 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9187d21-9097-4577-b96c-931b4a397c96 CLINVAR:1699994 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86eabc4b-4c0a-4ede-ab3c-3ef0126201c4 CLINVAR:1699994 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c62f7d5-d112-4df5-9a53-bf931fcbe0dc CLINVAR:1699995 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8b0262c-edda-4451-8220-f3cf5aec1dca CLINVAR:1699995 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea813b10-e30a-4f2b-befd-71c0bf1f6144 CLINVAR:1699996 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4635ee6-f9a6-4bd6-8b10-bd7ad9963456 CLINVAR:1699996 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d74ef1f1-8e8c-4332-8894-2431d6d66ebe CLINVAR:1699997 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 48271d1b-2121-4d99-8dd6-543ba6247588 CLINVAR:1699997 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 580afed2-3055-4de4-9fdc-d1a05e8bfbd2 CLINVAR:1699998 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be29e1d9-f754-483f-a8c4-1840db2d3e9a CLINVAR:1699998 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 596fad47-1c0e-4c2f-b40b-47e42579d188 CAID:CA386967815 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a57ee11-271d-4f75-a775-8e40578a50ba CAID:CA386967815 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5993b8a7-dbd1-49ff-98cc-d827051cdeef CAID:CA386958691 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d352620f-bc56-4fed-9e6e-984769a6946d CAID:CA386958691 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5d9e24e-cfe7-4f10-a591-95f700187686 CLINVAR:1804171 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 796f0688-e5d3-411e-a012-8256b9b96160 CLINVAR:1804171 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb42d95d-9a39-4e92-9231-1d10d46d2c2f CLINVAR:203585 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6998b3d8-4d53-4628-86a3-f66440b9d326 CLINVAR:203585 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bffdd49c-e553-47c2-ae1e-dc5cd98271a3 CLINVAR:371449 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e86b40fa-d84e-431b-886c-6a40bb44abea CLINVAR:371449 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39d03e93-ccba-4a63-bb8d-72d9d828f883 CAID:CA397722455 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f63f6d6-c3fb-444f-9ac2-92887d95cd3a CAID:CA397722455 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1865a8d-e591-4d45-ab05-f0182c7219ba CLINVAR:21025 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 41719c54-75c6-4f46-90f6-8d7952517e88 CLINVAR:21025 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bac4935-42cd-4aee-98c1-5f4af0239365 CLINVAR:92275 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 239604d1-4d35-4306-94b0-af5953ce1515 CLINVAR:92275 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01bc23f4-60e4-465b-8a3d-5ac261b52145 CLINVAR:440555 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a4098fea-c2da-426e-94f0-36c4b8deffd2 CLINVAR:440555 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b03a32d0-c98a-4e1b-95d2-09452b01d890 CLINVAR:251105 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb5625e5-7b37-4440-90e5-7572f9799e26 CLINVAR:251105 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7056a896-96fe-430c-b804-a42fdde044c1 CLINVAR:251699 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a044ca7e-ea88-420f-b80c-f073ee46d4f0 CLINVAR:251699 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fa0e950-2572-41fe-9866-bdfaf358e3c2 CLINVAR:3695 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1a036ef-d067-4cc7-b2a2-073db040837f CLINVAR:3695 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e151a896-71a2-4f41-a983-1ac65799a3ab CLINVAR:36454 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 380f92e6-9eeb-4d04-8995-9128270a28ef CLINVAR:36454 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9af2cb0a-2965-4276-aee0-d8287cdbdd14 CLINVAR:162499 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 19fe8284-d487-40ed-a169-6d90902f5006 CLINVAR:162499 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eb8fbdd-cc2a-4b2c-bd69-258ccca7d443 CLINVAR:226363 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f33e9c18-2380-458d-a176-977ca272f478 CLINVAR:226363 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d27bd30f-b052-4d92-a787-becf9bf210d3 CLINVAR:251938 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff1ebfb3-c3e9-4ecc-8a08-1d3e5ecb4657 CLINVAR:251938 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2875c77-2c44-40ab-b291-fff7982a2bca CLINVAR:251085 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea2e311e-e6c1-406e-908e-4ab3124c4586 CLINVAR:251085 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 409ccfcf-b572-43b1-a1e4-1ce607bf543d CLINVAR:251436 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92929e59-a5bd-4df8-9837-1cd49efd7b4b CLINVAR:251436 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00d90fda-fce1-49e8-af15-d63e28df67d1 CLINVAR:375806 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8d2e779-d05e-4100-9b44-8745934cb6fa CLINVAR:375806 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80ebf4a6-38a8-4953-8deb-dc9cb5ed5ea1 CLINVAR:373769 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 294c8d33-5d95-4a17-8695-4b730d325508 CLINVAR:373769 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e4e64c5-9eb0-4fc8-8b12-056fea660f87 CLINVAR:252302 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7230486b-957c-4201-9189-b793693c1ab7 CLINVAR:252302 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3f0ca60-28f7-4356-953d-be8bafa2bac2 CLINVAR:250954 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dcb2c688-00a4-41bc-8874-fdedf5c0664f CLINVAR:250954 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48277cb3-cac6-4fab-8e65-61eadbf9cf78 CLINVAR:250980 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b77b1fa-c289-41b2-86ee-dff9c03fa961 CLINVAR:250980 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afba79e5-17ca-4f4e-8361-6759a15e5514 CLINVAR:250981 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 53182b0f-8e92-40da-9930-4bec14bc5917 CLINVAR:250981 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23af614f-7c1a-44bc-a4b8-50fa1b7b7de7 CLINVAR:251926 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 12e1b102-8b9e-46f6-ac7f-3b8970c63322 CLINVAR:251926 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a434fa6-ae3c-46d8-a9f0-fa2306c68fd8 CLINVAR:252330 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cca74c04-5942-4260-a3cd-373fbd353c61 CLINVAR:252330 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebc12ebc-07c5-47a5-9f4c-3f5557bfbdc3 CLINVAR:1703212 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 249042a5-c56b-4bbf-9c27-d702138a7b9b CLINVAR:1703212 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d343544-d024-4ab1-9e5b-1cb3a28f5d63 CLINVAR:1703218 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15fcc33c-640c-4feb-b341-c5742ebb660a CLINVAR:1703218 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af7b3c78-0c9f-4a77-b6f6-d4e640e5035d CLINVAR:1703219 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10e8fc4a-7138-4e28-9108-1e1e06f4a7d4 CLINVAR:1703219 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfb93d37-931e-4e3e-addf-29758597d787 CLINVAR:1703220 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a738da7c-e414-4ee3-91b0-f304dd03088d CLINVAR:1703220 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cba060d-773c-419f-b850-8a1658f8fdbe CLINVAR:1703221 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb59ae0a-1634-41d9-9916-f0fde6dcc64d CLINVAR:1703221 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9487df82-d377-4659-9c75-80a18ac382b8 CLINVAR:1703223 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72ee20bd-9db5-45e7-b318-cb88e0ed20b7 CLINVAR:1703223 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5847630-a976-400e-94ae-bb4268d0726d CLINVAR:1703224 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55bb4bb0-20dc-498a-b42c-b7e3e2348132 CLINVAR:1703224 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61bd353b-270a-4d9d-9044-62e8a4f3af78 CLINVAR:1703225 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b9ec19f-503b-427c-ad5c-e10fa3df26d8 CLINVAR:1703225 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9edda99f-79c8-465a-abc0-8c3600a3554f CLINVAR:1698724 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0102bedd-a0fa-46a9-8ad9-545292db56bf CLINVAR:1698724 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75a61b20-5c51-4b46-a030-4be0e7c117a6 CLINVAR:1703213 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09ce1231-1842-422b-8321-66393d71157d CLINVAR:1703213 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 067e9a1c-4e60-4c93-ad26-1dbf1af48de7 CLINVAR:1703214 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e88288fa-c081-4c23-bc2e-9254ac3c0e6a CLINVAR:1703214 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 340d7133-a171-4637-85ec-c7c8f1f4f7f3 CLINVAR:1703215 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1404a38d-49af-41c9-99ce-730f12e1a9b0 CLINVAR:1703215 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3acc180b-2553-4875-841f-a1e4ef3cb5c9 CLINVAR:1703216 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b7ae14c-932e-4393-b9ca-84f8066d5e1a CLINVAR:1703216 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0291753c-7768-4090-8a69-16a8ac41140e CLINVAR:1703217 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 884f1f0a-9951-4571-88f6-5690db6e5896 CLINVAR:1703217 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69121702-d25e-49e2-8080-37306c8f8ecf CLINVAR:9712 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5ea410d-59fc-4898-bf3e-d48f613968ac CLINVAR:9712 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab5fcf51-2e9c-426d-bc8c-e70a1ecfd1ba CLINVAR:986458 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa01e534-3279-4f51-b6f8-ae65292f3101 CLINVAR:986458 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dddec459-985b-4c41-ac09-cc9574fb3862 CLINVAR:693516 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0240207-a695-4832-a109-31c4d186248d CLINVAR:693516 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b6f9356-81dd-49e7-a96e-e8bca62cedcc CLINVAR:9715 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1232bbc-0007-428a-ad36-7aab1adc29cf CLINVAR:9715 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85f3e105-642b-4559-aa24-a5d8078b0606 CLINVAR:65518 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c7d0fbc8-605c-4fb7-8d71-82765f065cc1 CLINVAR:65518 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3393d0fb-e3b2-4faf-9cb2-34ef4199763f CLINVAR:986454 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a0f0e04a-502c-4d3b-bfef-b0dfc62213ce CLINVAR:986454 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c72bfc6f-c456-48f6-a433-7ecabc8193be CLINVAR:11505 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81334220-1091-4795-b57d-4c604eacd73d CLINVAR:11505 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0dc8904-23ab-424b-951a-39d7d42e87e7 CLINVAR:929426 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 30c6ec26-f9e6-4093-96e6-6e15d1f6e539 CLINVAR:929426 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5b9a1fc-d390-4da2-8b7d-18ec4cf31a91 CLINVAR:489299 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b77956e9-98ad-4eee-bc4a-3978c235f21c CLINVAR:489299 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8015b5e-555b-492e-bdc7-2d557991750b CLINVAR:643438 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ca1aa83-d14b-481a-9939-cad154ffd6c1 CLINVAR:643438 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01b82579-eeba-4f06-b762-f16a493ba629 CLINVAR:487576 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b164321-248a-45bf-8c43-10520228805b CLINVAR:487576 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 352efebe-bd62-4166-af18-06d4d4404cc6 CLINVAR:143749 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d2381202-64aa-4364-9ccd-28eca00df034 CLINVAR:143749 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42ed4bb5-6ab6-437b-ac0a-6f045a8266d5 CLINVAR:156615 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e13104a-26f7-4536-b285-250419ad821d CLINVAR:156615 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee0951e0-d3f7-487e-b54d-f7a80e39a301 CLINVAR:143754 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ae56882-b672-4b50-959c-d04170eeda2f CLINVAR:143754 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 311af4d6-5e42-406b-bd43-f56fdf582a1d CLINVAR:133026 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b923dc7-e623-4e06-9b3d-2f3cce224845 CLINVAR:133026 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89752ae5-d343-485f-9d42-c7c4a813f71d CLINVAR:650932 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e879b633-0b50-4e66-a33f-83bba1b588c6 CLINVAR:650932 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f5dded6-f1f5-43ee-a4e2-1201d836d98a CLINVAR:65996 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1852c55-0be1-434f-a769-cbfa1f5ca440 CLINVAR:65996 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 496aac25-f4c2-4b57-bfdb-1e2ff9118cd0 CLINVAR:803557 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb714957-b872-4439-aac0-18a4edfda731 CLINVAR:803557 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d5e5629-0e87-4ac3-b2b2-7021c7277fda CLINVAR:133027 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87789734-1389-44f1-a9d9-2dd81095bddb CLINVAR:133027 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08d965e5-2478-47f3-a05a-f47808c93abf CLINVAR:590582 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc878390-3367-4a13-bba0-933538681cea CLINVAR:590582 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2302c92-c276-4ce6-b40f-43b883574bf8 CLINVAR:803555 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6bfe053-7a43-47be-9810-1a578b2fad72 CLINVAR:803555 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27b88c0e-ca5e-4a0f-8996-bd07b3c59b1b CLINVAR:133203 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56ced840-46cf-4296-a08d-5e961af01a2f CLINVAR:133203 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ad665e2-bedf-45e3-9e79-e2b278a7b3d4 CLINVAR:803556 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da040b11-8ffd-4603-9316-b1b2e5ea19d3 CLINVAR:803556 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c03028ae-db69-478c-a67b-10dc8a023eca CLINVAR:938242 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 55fa50ab-8bc5-4c2c-a982-0d10f4391e6e CLINVAR:938242 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b22d6dc-72c9-4527-98e1-bfa26f771361 CLINVAR:4021 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f09cca59-5496-4ba0-9c18-e288e771874e CLINVAR:4021 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 291448c1-b367-4dc3-b662-47da31041aba CLINVAR:456391 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5c1b069-9193-4a74-9d3f-859fc8602807 CLINVAR:456391 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e592c331-7ef6-4051-9212-56728179bb36 CLINVAR:286469 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a232deca-82ac-4f04-bf2e-36d59224bfac CLINVAR:286469 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7dbb7eb-4c44-43ae-bb99-d9d7652d5ebb CLINVAR:371226 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ea47d2cd-3835-476d-8b6e-47766ad275ce CLINVAR:371226 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46b1ea7e-c899-4536-82bf-c8fd04ff1d4e CAID:CA658795267 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7428f280-db45-456e-9ac2-9111846ddcc2 CAID:CA658795267 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82315dc2-c52e-4923-9279-15a6d784838f CLINVAR:188786 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88e6f8f0-e8ea-427c-b983-12ab720360a0 CLINVAR:188786 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1175e5b-21e8-4c43-8b8b-3aa9c2573d6c CLINVAR:935199 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0cfd50ed-68a1-45fb-a275-ee3cdca932f9 CLINVAR:935199 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad1fca0d-9492-484a-b5c4-151c92e902d5 CLINVAR:392862 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d20b114-a158-489f-95f7-fcb627293006 CLINVAR:392862 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2d64a4b-a089-440c-b2cd-a30f79e571d2 CLINVAR:432217 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e018e300-1d97-4329-9e6b-dd6df53ef5ec CLINVAR:432217 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96a4589a-98ee-4f44-abd0-21ab8d051395 CLINVAR:552527 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6992bfcc-6714-4379-98fc-79bf45c8f949 CLINVAR:552527 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38a174e2-4c67-468f-a694-b9c7b198c00e CLINVAR:843677 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c352efd-d133-4839-9c94-7928c8a4d845 CLINVAR:843677 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e88347a-f4fe-446e-a928-ab2388ef8cad CLINVAR:554339 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87276084-af23-4d0a-80dd-d0213c426473 CLINVAR:554339 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 595b17d5-5ac4-49db-b675-7a824b395351 CLINVAR:856881 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b91e80d9-7118-4bec-8c66-9b4a7150b311 CLINVAR:856881 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95cd4dee-73d0-4361-a1f7-4691b2817b3b CLINVAR:1073045 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b418ec1a-594d-472d-b28a-017458fb096d CLINVAR:1073045 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8484552e-b02e-4fe8-8ddf-9cd2fb67bd7f CLINVAR:618506 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a7978e6-b9cd-4e64-ac5e-690b80b1768c CLINVAR:618506 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a609d0d-37e1-4659-acce-29a429432ad7 CLINVAR:846935 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 92f0e21b-cb4d-4736-be5d-e021d7432dff CLINVAR:846935 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5f1a339-2750-40b9-8b16-1bebbdb16b69 CLINVAR:1626 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c432d48-1994-4d28-a70a-89ab1db8899b CLINVAR:1626 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c9afcb7-21af-45f7-9f09-f2d6535a048a CLINVAR:422995 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 176c4700-d179-48e6-a5a1-76f273fd43a3 CLINVAR:422995 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bb9ef2c-ea9f-4262-a77d-18b650fbb072 CLINVAR:932787 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6cdd4003-2c33-4270-af71-9a0345809b82 CLINVAR:932787 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09ecaf67-8e0a-4c36-b6b7-421dd7a02e08 CLINVAR:370686 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2908962e-bdf7-4671-a2eb-de15fac1582c CLINVAR:370686 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 088481af-34c2-418c-b17f-aa8a19d793e7 CLINVAR:203580 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a18b24eb-15ac-4696-9661-514cb7435e10 CLINVAR:203580 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb1a9852-63ac-49bd-903e-5d8011a1e8ee CAID:CA397724300 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 33f5267b-ef98-4276-8400-5cf0ff115c27 CAID:CA397724300 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20598ff4-fd1a-4140-a574-f690bd6b8de1 CLINVAR:166638 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23795c1e-aa60-4429-ba01-f5b9bbf5a366 CLINVAR:166638 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4cd9e29-e51d-4ff5-95a1-fbbead596c0a CLINVAR:557575 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53a8a0e5-0145-464f-8102-0df86aac4abb CLINVAR:557575 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79d2151b-57e2-4e31-a1e1-fb00ef608121 CLINVAR:370482 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0997adc4-973d-43a1-8c74-cccbcfc69d89 CLINVAR:370482 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9a74d25-57a7-419c-bf1b-4ae3a7d9b3f9 CLINVAR:567061 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f3b1904-288e-4fb6-81fa-df4d885676e4 CLINVAR:567061 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c26406d5-420e-44e7-bb9e-7c3ad276d5aa CLINVAR:203593 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 377dbd2c-b3df-4ea8-b158-8b9d583fd7f1 CLINVAR:203593 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0157ae9d-b865-45c4-a824-9f45e7de6dc2 CLINVAR:581398 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d79b7075-3df5-4023-a7c1-c041cdef0d39 CLINVAR:581398 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe479896-05c7-4455-89b5-994c33561151 CLINVAR:932848 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 94811fa8-5acd-41fc-b6b7-ce795d90447f CLINVAR:932848 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6ab0b60-b068-428c-bd8e-42a775e29e6e CAID:CA8337657 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ae12a186-0f7b-4bc3-9029-12f3d1b8f9ad CAID:CA8337657 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d56c5f9-f8a9-4c2b-acc0-312eb8957652 CAID:CA397722888 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ce446b9-cda0-478e-99d2-8507e94212b6 CAID:CA397722888 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac15644c-7170-436a-821c-42a0059c8799 CAID:CA397726273 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9020f9d7-2549-4b19-897a-1e80f9b24f22 CAID:CA397726273 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d6ea475-ee01-4689-80a1-c3122900028b CLINVAR:193541 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0bee221-f679-48de-bb41-448226345dd1 CLINVAR:193541 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 265d62a8-e70c-494f-9fb2-f164f77a57ed CLINVAR:203570 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2611279f-f848-449c-8999-bd787daeef13 CLINVAR:203570 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52576281-82f1-4c33-9f56-349bd5064e32 CLINVAR:254700 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b121a289-ab4f-4c5a-9a2c-768068fdba1c CLINVAR:254700 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 372a20fa-aeee-485a-aa6c-56103b517374 CLINVAR:553583 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6c56700b-720c-48fb-a350-3691b5a4075d CLINVAR:553583 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d40f27d3-28c4-4ec6-bdf3-7f208a5bc8b5 CLINVAR:216422 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d5201da7-574d-441c-a96c-be18fd60715e CLINVAR:216422 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e46d882b-50de-45c7-b30c-3cec6b1b945f CLINVAR:279878 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5ab15fe-2575-498c-8769-114c11225727 CLINVAR:279878 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed6580d9-64e1-4dbe-976d-c3c9ab2d4eb6 CLINVAR:420491 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44dc0129-95f4-4a98-b707-e971b02131ba CLINVAR:420491 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e9b2858-2064-4e88-9eb6-d234be92be14 CAID:CA346124255 biolink:associated_with_increased_likelihood_of MONDO:0010986 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 452286c1-6865-4528-a9a8-31888f361873 CAID:CA346124255 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c096061d-718a-4a0c-9082-007d93bd76f6 CLINVAR:370279 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0d57e01c-ac83-4849-a041-22f0bc2ecc02 CLINVAR:370279 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 946d0052-4530-4dc2-a326-26a656300713 CLINVAR:412802 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cacd19bb-0909-40fd-8566-4805bbf0f5f4 CLINVAR:412802 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84bd838e-9f55-4cc9-ac34-8cbc6ac0917a CLINVAR:127676 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9a4328f-4b30-4345-aff9-38a27ea315c1 CLINVAR:127676 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45d2b6e2-31fc-4025-a02d-775b6c0d1503 CLINVAR:127682 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9244ff8-8a2d-440e-8ba8-aa920c71d99e CLINVAR:127682 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b472dea6-8627-4184-b8d3-fffa581b7553 CLINVAR:234695 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7037a09-33c3-4f24-b57f-4e68642828a1 CLINVAR:234695 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ad6b4dc-c180-46a1-9486-bef6fb0f095f CLINVAR:468719 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4500bd1-6864-4d73-a490-ae867d441f7a CLINVAR:468719 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cf9a446-b41d-488e-ac4b-db8c347191d2 CLINVAR:141717 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05d7cf22-5335-4caa-b485-86580b73d021 CLINVAR:141717 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25c8fe26-cfde-4aa2-928a-4cca93d29e6f CLINVAR:404144 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4fc58135-ddba-42ff-a370-203d70a09815 CLINVAR:404144 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bec002a-2f06-48cf-be22-ee9ce07031f7 CLINVAR:140783 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dcb1cebd-3e36-4a83-a5aa-50af1b2758c6 CLINVAR:140783 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df64cbf4-2ae1-4a87-aab0-b9e08a657eeb CLINVAR:825730 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f4c2a8e5-8236-42b6-b849-ba1ba8a2c440 CLINVAR:825730 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8eb9f0cd-b059-49a5-b41f-89a5f79aaf87 CLINVAR:428199 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen acede76d-9ac5-4f78-8a75-994130ef488a CLINVAR:428199 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20f16f4e-a5c8-4c72-b296-494bd5429e41 CLINVAR:644390 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9855fa41-9297-4b69-a92e-2479139d6d15 CLINVAR:644390 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d952a1ab-de18-46f5-83d4-d2b8c5914b68 CLINVAR:224542 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 310b21c4-2863-42e0-8e2b-8141829bfafc CLINVAR:224542 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a52e21a1-1d42-4a9c-baad-91fa0a490f43 CLINVAR:619908 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d87b29de-37a9-47df-b019-46cea0e77e0f CLINVAR:619908 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 968c6ddb-1d20-4f54-a6c2-442f56685488 CLINVAR:484605 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30b836e8-950f-4034-893d-b7b03ac6fb12 CLINVAR:484605 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3be5cca9-4e05-4cd6-8b64-33777bf5dd3c CLINVAR:492332 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6fe60bc-a0c6-48bc-808a-bc18a8608479 CLINVAR:492332 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 858418ae-aed7-4645-a26c-969b5447d16c CLINVAR:316208 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5769f6e0-9ee6-4c77-a190-a07e4324b056 CLINVAR:316208 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed461e0e-ac9f-4fa5-bf64-cda861743b45 CLINVAR:589915 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bbdbafa9-252e-4f47-8429-36d0e9e15557 CLINVAR:589915 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 735f0a07-90f9-43d1-aaca-adc35a7b044b CLINVAR:598112 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 565afedd-1050-4144-acdd-212752101190 CLINVAR:598112 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c47441ac-8816-4d33-97b1-67411952a52f CLINVAR:625953 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aed2f622-57a3-452c-a23b-6c44fa707d9d CLINVAR:625953 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dc862db-40ea-4029-9253-c6d608cb637f CLINVAR:570204 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d313a9d9-ea6b-4129-829e-8f5f05d0a876 CLINVAR:570204 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec7d7839-82a3-469d-b29a-a723c997f624 CLINVAR:654184 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 671fdc7e-64f1-4bab-9fe3-cfe2c62d67b3 CLINVAR:654184 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52dac3ea-f2bf-44e2-8cd1-6a6701a93e49 CLINVAR:55918 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5cd850c7-2fa4-40ed-9d27-62f4f81849e7 CLINVAR:55918 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a515a14-4eb7-4152-a99e-4fa420c9c356 CLINVAR:205617 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3016be60-6911-45f9-b928-e47efb3c4506 CLINVAR:205617 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a911d659-c6b3-4c0e-ba86-55f24bdac3a0 CLINVAR:55919 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ea097e86-d08a-446b-814b-e19cc55bd139 CLINVAR:55919 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9167730b-4453-4ee6-9426-0d842490c697 CLINVAR:7302 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4abe4493-ccf0-41e5-a0b1-4e39fbe5483d CLINVAR:7302 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 047e9ba4-0b0f-431b-9fe5-29e25ad8cf81 CLINVAR:55921 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d19e410-9f4f-454d-9f86-c58c002454b3 CLINVAR:55921 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0c0fce1-fe8c-412f-8674-8e3295ad1dce CLINVAR:21299 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01528545-37db-4a09-94b3-06cb3d5baf35 CLINVAR:21299 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a264701-d14e-4e40-9322-e00168f56b7f CLINVAR:572733 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 80598b72-2329-4fd4-bc99-440189cf6bd3 CLINVAR:572733 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 100b998d-2387-4209-8865-054b57d58258 CLINVAR:21065 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ae2adc5-7378-47ea-b78d-7ae2096e2ed3 CLINVAR:21065 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28a390e8-dd79-4731-b599-5bdfb3829fdf CLINVAR:205596 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a3a3dda-7b7e-45b2-8e64-3f8fa08040cc CLINVAR:205596 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06e204ca-968a-4c1e-b94d-12f531908d9f CLINVAR:544252 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 287c924e-8b36-4c16-a402-a4abacc1e849 CLINVAR:544252 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d706050b-7651-4607-9c0a-8a475ee04c58 CLINVAR:205595 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b256c8ab-f0c8-4344-ae2f-04cdf1231282 CLINVAR:205595 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 243dd39a-cc20-45d3-a549-678ef75d2f0a CLINVAR:205594 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d16f426c-8401-4ded-87aa-7bcc89a93bb2 CLINVAR:205594 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 418c7fc5-3af4-441d-b5da-17f197d171ef CLINVAR:445930 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37da3d8b-c56e-4b91-88d7-7846badbe7e9 CLINVAR:445930 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84e52a9f-a8b9-4d79-84c9-941ef1695bcb CLINVAR:205569 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79ca507c-9d91-4d8b-b526-24dd98589751 CLINVAR:205569 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63ef061e-1958-42cb-b303-ec2c7fb43738 CLINVAR:205592 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62084df0-af67-47f9-9145-02e27d72667c CLINVAR:205592 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 148c4080-4972-4d29-8e48-8bcb2f5e5ea4 CLINVAR:577478 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 837fbb01-9dcc-4a6c-a379-517177c2998b CLINVAR:577478 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bac6495-8e7a-43f0-9cf7-a8c4e768d871 CLINVAR:544261 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45164140-78e4-4b81-8bb3-dcecd85a0ae7 CLINVAR:544261 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dda13ce6-63df-4919-8050-c51bbb8a7017 CLINVAR:205590 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ecbbd9d2-254f-4e82-b733-0898749b2441 CLINVAR:205590 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ec9f952-9d1b-4aeb-9914-2276b1374e57 CLINVAR:205584 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7c06243-2c91-44ac-a238-8f5885c94b1d CLINVAR:205584 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d65684ca-0859-4468-b4d7-b14d51584148 CLINVAR:431959 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5464b09a-162a-4bd9-833a-cd62516ebddc CLINVAR:431959 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a28f22dc-55a1-4ae2-af28-d0c5adbf8cab CLINVAR:495685 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 335cef8e-361e-4eb7-83ee-b8f7c16b67a2 CLINVAR:495685 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08bd469d-2949-4b88-8102-dacfaeea5ba8 CLINVAR:205581 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2f0d2484-7695-4d68-af17-4add5fe96c63 CLINVAR:205581 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbc6407a-d172-42af-98b6-e1baade2c50e CLINVAR:513151 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6bd710a2-4256-48be-8415-8d2e443e26b4 CLINVAR:513151 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e115591b-eda9-4c56-9fea-a44b193043b2 CLINVAR:225369 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 58815785-9eb7-47b7-b7bf-5ca9bc783eba CLINVAR:225369 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aa4ed0a-920a-4cee-ab99-2b3341dc796e CLINVAR:664123 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 95169fe2-3d99-4009-95dc-a51f335e685d CLINVAR:664123 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7039399-63cc-4958-be23-28c904c19126 CLINVAR:205580 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 430184c1-e487-4092-bfaa-ceded49fa01d CLINVAR:205580 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 711a01c5-3b17-4421-8bb2-ff368830627e CLINVAR:566624 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7fb7d077-c639-4c53-b4bb-945d34aee176 CLINVAR:566624 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bed92523-d807-4369-93c2-ed37f8709f1e CLINVAR:8302 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84e05842-fd8b-452e-9001-0bfb31a0146f CLINVAR:8302 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8565ee63-01e8-487b-afd2-061a1621284b CLINVAR:21066 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9cd1eaf-8db8-4491-9ead-2f78d71f09c6 CLINVAR:21066 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a4dec73-2925-4a0a-a7c8-f73a06a75670 CLINVAR:666596 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5cfdee4-adc6-4673-b2d4-11a685dcef97 CLINVAR:666596 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b5bee7d-0724-4174-aa0a-045eb3cf7ac4 CLINVAR:666588 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f1fe9fc-c288-4998-93bd-6849cac00d16 CLINVAR:666588 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e5877d9-3c0b-471b-bab7-294a33a2153f CLINVAR:392671 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07e41e92-69f9-4edb-a970-e27e1d6c8efd CLINVAR:392671 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bc152d4-533c-45e3-9fac-4af0191af0de CLINVAR:533702 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cf902174-f769-467a-a560-5c4ff664e2fd CLINVAR:533702 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acd9b2f9-3ec7-4875-9671-9ef58332dfa8 CLINVAR:655315 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a8154c9-2924-4642-aabb-28125d07e815 CLINVAR:655315 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b642c76-30be-476e-8c47-cbb817bde71c CLINVAR:432463 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b55a779-a7f7-4387-9e4e-768abf7a5f0a CLINVAR:432463 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef74dedd-cea3-400c-85a8-362730f789ce CLINVAR:465148 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2889917-f0ca-43d3-bfe7-cfb13139595d CLINVAR:465148 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21eef21e-ba70-43ba-84fb-ec7fac0680f0 CLINVAR:643295 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a68f6c1-7210-4d0c-a11c-223eee2d5ccf CLINVAR:643295 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf8d09d1-0dac-4287-be0f-1ee499338a92 CLINVAR:650071 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1a4c4a0-aadc-4345-bb13-4519b6b11bff CLINVAR:650071 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b421631f-7105-42fd-aa10-e91d0b19e50a CLINVAR:572616 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d082561d-f0ae-4e8f-b010-bc641cdd0b0b CLINVAR:572616 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38d11a43-7b3a-475a-9bb0-d3cbaa64cf79 CLINVAR:410221 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d01107a-2687-4093-a887-a19b5e571337 CLINVAR:410221 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06333b7f-b10d-4ed0-86b7-f0c5530362f8 CLINVAR:658337 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e264f982-4786-4771-8f8d-3e6ba5958a58 CLINVAR:658337 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e3c3c00-10a2-4713-bd27-0d1894b8875f CLINVAR:21448 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81fee293-2ef7-4bc3-906a-c91d54a9361d CLINVAR:21448 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19163346-2a64-4af5-ae6a-75f81dfbeb2a CLINVAR:652028 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1717c76e-1fcd-4330-a78f-a290ca40ba7c CLINVAR:652028 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc907e07-7b81-4d8f-9145-5648134a8afe CLINVAR:449366 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9a434b3-d366-4dc5-a729-4b774df64c66 CLINVAR:449366 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66408dc4-e1a6-4d1c-ae72-e4858ca9b940 CLINVAR:635461 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 05abf4b9-0d8b-492e-bf7b-aa7dba65771a CLINVAR:635461 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98bd7916-a6e2-4aa7-8952-f6ee69f78292 CLINVAR:452407 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc50eb57-c6aa-46c4-8a93-0f58c7a3401e CLINVAR:452407 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c1d25f6-bf4b-4626-94c7-765592805fc5 CLINVAR:416002 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b61e82b-fd47-4ecd-9dd3-d9e4cdb73816 CLINVAR:416002 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77052b18-20dd-4604-ad8d-01eb996c85a3 CLINVAR:633583 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ff35127-fca3-4ec4-9403-3f82e13580a4 CLINVAR:633583 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edfe8092-ee5c-4055-b5b4-656f569ca0c3 CLINVAR:586615 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1213a977-2ac5-47f9-a1e4-429e63709d66 CLINVAR:586615 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 987d6080-330a-40c7-91fa-b22678e3eb1d CLINVAR:21017 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7050c79-78d0-4e67-8278-db20c9e5b41e CLINVAR:21017 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eb734b8-f025-4a23-8051-dc3a4072f8f9 CLINVAR:92276 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9499ad6d-bfd4-4eaa-ab2e-0837bc88490b CLINVAR:92276 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f62cb6d-47df-4640-b6e6-1375b30334a9 CLINVAR:986472 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 95f49365-5335-4889-8489-16e96a0ea16f CLINVAR:986472 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59330177-7a13-46f8-8b61-d04c31b4df64 CLINVAR:9632 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ae31526-9cd4-485e-82b1-50eed4701552 CLINVAR:9632 biolink:is_sequence_variant_of HGNC:7470 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e5a7804-2b5b-41b7-ba97-f81fcf2c6f42 CLINVAR:9606 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d36ea533-b02b-4cd2-8c6b-16c77763be4c CLINVAR:9606 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce50e461-20e3-4e79-be40-1cc8a084797b CLINVAR:689875 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d3aa585-eb6d-461c-aafa-fc6884efa353 CLINVAR:689875 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a966eb99-bd6f-4f93-947c-e0d59b954ed6 CLINVAR:9556 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9348868b-a61d-41f4-88ed-7562fd2d5f87 CLINVAR:9556 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c166939d-5314-462b-8306-6e9ae4041454 CLINVAR:223247 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6acde2f7-12f9-4910-83af-0398b277a7a8 CLINVAR:223247 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34dc34a1-c045-4ef3-a5d6-f8f4a8e6fe49 CLINVAR:9707 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1de56bc2-ed54-4bd8-9552-ae0c1afd03bd CLINVAR:9707 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2defdc20-3e7a-4a71-8484-e866edac5bc3 CLINVAR:9591 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 641d1341-f7de-44fe-9dc2-f21d9dbfc7aa CLINVAR:9591 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc2f8af6-598e-41fe-98fa-905e3d77968d CLINVAR:102551 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d30a67db-bff6-4002-986d-750a7e1219fb CLINVAR:102551 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67e53935-2a5c-488e-87c2-bb7cbca5793d CLINVAR:102652 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b984e4cb-d0c0-417f-8267-f14ad91feb99 CLINVAR:102652 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40ff72c2-35c1-40b4-8f25-d2c3104cd82e CLINVAR:102663 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7c625b0-1012-4035-9077-35cabfdebd62 CLINVAR:102663 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69f17fa9-560f-428c-94dd-a011d4b7e704 CAID:CA16020977 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2be5fca8-696b-487e-bda4-904d72835558 CAID:CA16020977 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baf6341b-2114-4660-9211-4b641f6e29d5 CLINVAR:102718 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49c44384-8bf5-4e2d-89e0-1edc70917092 CLINVAR:102718 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4013e21-b169-44b7-84d9-eb0bfcb961e5 CLINVAR:102664 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e06c3026-4acf-417f-9f59-2e66cd36421c CLINVAR:102664 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45400406-728f-4835-8747-55edb78ea25a CAID:CA386493311 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98541c44-a89b-4e05-82a9-539a088f84aa CAID:CA386493311 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b409d52-2c46-4bc4-8519-3d8f5a1945fb CLINVAR:657348 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 35cfbeb5-08fe-4278-9624-541ed1248a21 CLINVAR:657348 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f8668bc-bee3-4127-b824-564c326c1221 CLINVAR:431990 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c8f2b93-0a17-4e6e-80b0-6f7f24309527 CLINVAR:431990 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e77f376-289a-453f-abf7-2a718674e04b CLINVAR:92483 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8dfc6e76-d66c-4b9f-9704-ad0d01a98cbe CLINVAR:92483 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6f82b73-ca40-41d6-b672-748b2ce97770 CLINVAR:498117 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 359a26b5-83fb-4a03-8354-97907f36e2b8 CLINVAR:498117 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa723644-f8dd-4e5b-8646-11b4d9e1fa45 CLINVAR:370130 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c7cf8e3e-3d07-438a-aa0d-6289951a2be5 CLINVAR:370130 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ea55135-f185-4eb6-98d6-3f08c941f30d CLINVAR:933090 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0c07b4c-bc2e-4fac-b2bc-0d94021499d6 CLINVAR:933090 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7afb0b4-92b2-484c-8aff-f78ad27e41e6 CLINVAR:690461 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d0f2372-2f14-4bbd-91e3-a8ec292e1a67 CLINVAR:690461 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4f8ca44-4952-4c3b-883a-ea0027ccb073 CLINVAR:1722520 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5bc0ab1-4395-4a47-8edb-02225cf56c71 CLINVAR:1722520 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ecfcd89-7fbc-4939-ade1-3a27d3c81c57 CLINVAR:479636 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac003b4b-c30e-4610-978a-96ab65005f8a CLINVAR:479636 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d54dfc87-ac6e-48b5-8200-4a0fc8d6519f CLINVAR:429125 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f4f1a720-5e44-4d36-8f6d-a8e77f2b4286 CLINVAR:429125 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ca858b2-9b37-46af-9a2f-7b033edd937b CLINVAR:824918 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f6c99e3-8e5c-4dc2-904d-721b9c53f91d CLINVAR:824918 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 419a6175-efcb-4227-8d7c-385040d2085b CLINVAR:1722521 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51d2c8cc-b046-44d1-b395-ca5a30c258aa CLINVAR:1722521 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d06d472-8a24-4d89-a763-213794fcdd35 CLINVAR:1722522 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc92c558-b4d6-4832-85b9-6405c4a817a8 CLINVAR:1722522 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c448428-11c1-4823-a8f7-0b62374bc29f CLINVAR:825925 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dcab2ae2-4f87-427f-84a3-08671b605c0b CLINVAR:825925 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43cd6f6e-eb0d-4c36-8526-57ae17dfe978 CLINVAR:653922 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3fa8f37-0569-4e68-bf48-09a5a3355291 CLINVAR:653922 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b234fa9c-75ff-44ff-a123-77d8af109eeb CLINVAR:933126 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6db23bfd-c203-43b5-924e-999afbd38641 CLINVAR:933126 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb7fd7ec-7db6-401c-af62-60893a8ee74f CLINVAR:825934 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9ebc68c-9907-4186-98d5-6324c41476e7 CLINVAR:825934 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aae4f5b7-840b-4d3e-9098-8b619edf6192 CLINVAR:1723160 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47335bfc-ec61-4a6c-84c9-cdfeeabeea1e CLINVAR:1723160 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cacd7a16-554f-4ce3-a16f-33a974595bdb CLINVAR:1723169 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42c4794e-eb9e-4d42-8d51-cca82d2d8e8d CLINVAR:1723169 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e55b956-fc2d-49ad-8c0c-09e642f14902 CLINVAR:1723171 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b587342-070f-4814-a05b-33cef48e9e10 CLINVAR:1723171 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd7a5d34-b1ae-45f3-843c-2c3164ec5874 CLINVAR:1723172 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7cf6a1b9-a13e-40be-94ed-5d8eb897424a CLINVAR:1723172 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3cc02ca-bd95-440c-b8a8-aee1150898ef CLINVAR:1723174 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 684335ee-b4e3-4cdb-95dd-09f733c1ab96 CLINVAR:1723174 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b255d8b-dddb-4ef6-86e2-cc0c256747b0 CLINVAR:1723161 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62ceeb7e-cf1a-455e-8100-435e61c751e1 CLINVAR:1723161 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70621ece-dad0-4d05-9757-26a549f0e4c5 CLINVAR:1723162 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25fb944c-cf5b-4c05-9c98-d13757a29654 CLINVAR:1723162 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd9532b0-789f-49d1-a994-30ee2f52ad80 CLINVAR:1723163 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c343f9db-a307-4165-b3f7-0f67945e5fcb CLINVAR:1723163 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6d7c9b7-c500-4b99-9d1c-b89e7ba2ddf5 CLINVAR:1723164 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 615993d5-50d4-4a68-ad2c-b40c65e0bcc8 CLINVAR:1723164 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 584a65f5-d027-4533-b7e4-e146cb700c46 CLINVAR:4036 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0bd32853-e1a5-4ceb-b796-a2471e4d64ce CLINVAR:4036 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daa304a6-2097-4b54-a491-42897e11cbf2 CLINVAR:550327 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9a7ed76-74a0-422c-a185-2751977f4925 CLINVAR:550327 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 767827d0-cff9-42d5-9849-11a79a306550 CLINVAR:526518 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e0c1741e-d256-493a-8a6f-e0ca5cca0ed7 CLINVAR:526518 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ccaeba2-007e-46ad-9eb9-46d30bd09e4c CLINVAR:289361 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 44c26bfe-3a2d-4600-adcd-5c8a76bbfab4 CLINVAR:289361 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 241fb8e7-d29c-4f09-a32f-d81e237790b9 CAID:CA915940949 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01209f74-fc9d-47b1-96ec-cfc4ec12931d CAID:CA915940949 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 852c7aed-1c99-4c92-8e22-299d30d9c5c7 CLINVAR:200100 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d3214113-6b17-4038-a801-fc9d0025de3e CLINVAR:200100 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8861b0d1-92c7-4cec-b3a8-52e218a93bf2 CAID:CA392317923 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8509ba2-c40a-40cf-8142-1c6da6b906c5 CAID:CA392317923 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4255e3c2-e37b-4fd8-8b69-9dae51256fda CLINVAR:200041 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d727ecc6-5bec-4b9a-9466-58b7259bd5bd CLINVAR:200041 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 109a511b-3620-4eb5-961c-09537ae994fd CLINVAR:1325453 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 521e2ca8-a5b2-4e3e-b624-00d0f3e14cbd CLINVAR:1325453 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aeaf4b6-61ed-479d-8bad-33675a3be616 CAID:CA392325153 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8cbcaa2e-0b71-4362-8661-d98952966ec0 CAID:CA392325153 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8b12ff7-6bce-42a1-9d51-4d2770ce4518 CLINVAR:549232 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f99ef8c-7a12-43af-bb27-4b45f29f70e3 CLINVAR:549232 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f093905-8c36-43b0-b69f-1ea591ace788 CAID:CA915940948 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96c3bd1c-aa33-4e20-87cb-0509afd204ec CAID:CA915940948 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 554e62e9-b3dc-4842-ba59-a1727246de0c CLINVAR:161245 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64b2597e-de21-4eea-addb-da4d598d6b06 CLINVAR:161245 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c34f053-56c4-487d-b579-1923d739fec7 CLINVAR:549394 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bdaab071-01d5-4e0d-ac00-58c366e2ccfc CLINVAR:549394 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c233b44-7227-43f2-ad45-efa7ab25aeb0 CLINVAR:200064 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8ebc680-28c1-42af-879d-6bff1e7f7b70 CLINVAR:200064 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5d06c85-3d82-4f7e-9baa-4dc6c623322e CLINVAR:143490 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd4b09d9-b2b1-4b15-b2b5-b3c0538f126b CLINVAR:143490 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07bb4571-0b90-4ce3-b2bc-e815863e48e3 CLINVAR:143549 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 536ee98c-8310-44eb-b34d-e11e17d6ed53 CLINVAR:143549 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93167d0b-10bd-4ca3-a6c2-cbcaac99d51e CLINVAR:143550 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1e47c30-1b91-4aec-a51d-8ddedefa4218 CLINVAR:143550 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5691f5de-83fb-4c07-a1f9-8ede1a81574f CLINVAR:143560 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96c326b2-c9ca-4f7a-9535-1dc53fa3785f CLINVAR:143560 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13ceeac9-135c-4770-8be5-b84dcf51f918 CLINVAR:143585 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c4439893-3480-4d11-a8c2-c7543a2b5820 CLINVAR:143585 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f181dbf-0dd9-4623-9d69-684f895d5176 CLINVAR:143589 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b2889abf-a471-4f95-aeb6-4b1fa4a07162 CLINVAR:143589 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc78c8f2-6925-4ea3-9437-f77e19dbf65d CLINVAR:143742 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9d6c2da-960b-4ce7-84ac-9d3fe21567b8 CLINVAR:143742 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe6f36a5-d2aa-4ff6-b5cd-30cf4368cc44 CLINVAR:143340 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1243812c-5ca7-40e8-8a73-2432bbab429f CLINVAR:143340 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42d14ed6-3170-47d7-82e2-b2f1e16ea0fa CLINVAR:143656 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa36e3ff-ed1d-456d-9a52-25a374c704e2 CLINVAR:143656 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bf368ec-e184-4b2d-83fb-3dee55883078 CLINVAR:189732 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 06beef68-4a4d-42fc-9b5a-357070ecebff CLINVAR:189732 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9af28435-e9c4-4109-b9cf-468505739376 CLINVAR:189754 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3741f62d-cf9c-4c30-8a76-c92f3712691e CLINVAR:189754 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e855cce8-631f-48b7-b3b9-274fd67f7961 CAID:CA399802454 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 006cf1e4-851c-4196-b27a-9390bd8e28c0 CAID:CA399802454 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8951d0a1-6e41-4b49-b633-b5eed1fbe8ff CAID:CA915940214 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 590511c0-76d0-4fa5-a9e8-44b0abb202eb CAID:CA915940214 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6895c81-f847-4658-b567-5da5a1cfa34d CLINVAR:1684418 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d7e8687-7b06-4504-a49e-87b7f6060657 CLINVAR:1684418 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4ffb0be-2f0f-425d-b921-307295826df4 CAID:CA915940264 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9016e5d-d17b-476d-8e28-b62c0d29016e CAID:CA915940264 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 539a98ca-c0a8-4d97-9564-ffe3386c3bd3 CAID:CA915940225 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d80fb2e1-f901-4e64-849b-c9a7cbcab379 CAID:CA915940225 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95267ba1-b478-4c41-bda6-33be6f6a897b CAID:CA915940263 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee468ca3-45de-4117-85b3-1471987cad90 CAID:CA915940263 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 639c5ce9-4210-4d22-9505-1c10d1661353 CLINVAR:1879057 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b10615c-3f9d-404a-95e7-328ba03633db CLINVAR:1879057 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf4dfcad-424d-44d4-9780-74c423265461 CAID:CA399805008 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60ae1a73-1abf-4743-9cba-114f43229a2f CAID:CA399805008 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c98913a-bb3e-4a71-be32-f62eddd7851a CLINVAR:1703874 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen abf67a62-a4a2-44c6-8bf6-b346c41a036a CLINVAR:1703874 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdd040ec-fc80-4fa6-a891-5e03dda23caf CAID:CA8603099 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e74e21f-152c-45ee-9c8e-ff58207f00b1 CAID:CA8603099 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d25a743f-928e-4c24-bc01-49edee99c184 CLINVAR:13563 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 134323af-53ec-4684-8142-5733555357b2 CLINVAR:13563 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dc12d44-9897-4179-b5e0-1bef86d9b8b3 CAID:CA915940805 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5754fd1c-7b6a-4d81-9578-805d074472a2 CAID:CA915940805 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a699672-1902-4dae-9b4c-fb66f4712da3 CAID:CA915940766 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca38dfc6-a827-4048-899d-13cad9708293 CAID:CA915940766 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 216e6da1-e6be-44fd-b3f8-121a9691d3c0 CAID:CA915940767 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34f6ab88-1e35-4793-960d-13fa50be2551 CAID:CA915940767 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd115b80-cbf2-4297-b51b-9ff938a359da CAID:CA399804480 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3737c972-abfd-4cd1-8154-22add12d28da CAID:CA399804480 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dd29d9e-d4ba-4402-9e2c-df98beefc909 CAID:CA915940267 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5723c3d8-3e89-4fd7-85b8-5d5ca7b6507d CAID:CA915940267 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 995687fb-8676-4ba1-b8d7-bc66eebabbee CAID:CA399798192 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 16eec71d-d5e5-4770-be05-91aab0fb87c8 CAID:CA399798192 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b10debf-7f7c-4317-842a-c7f8fd379539 CLINVAR:1703869 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 646a0f04-d2c4-49d4-ae50-150eeb4c908e CLINVAR:1703869 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0622eed-3da3-4c16-bf55-001345ef9749 CLINVAR:1879045 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1af12181-32c0-40c1-abac-1b53c72aa1cd CLINVAR:1879045 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 690d0efb-3514-4f4b-9911-5341a6b52cb9 CLINVAR:1879044 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5cd000a5-a69d-4da4-994b-36c3950bf2c4 CLINVAR:1879044 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ceb37c1-80e5-4fae-8e39-aec8b64a299e CAID:CA291224896 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97105960-89c6-44fc-b4bb-367c692551df CAID:CA291224896 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25aacfea-a014-4111-83a8-f31d8be6012e CLINVAR:1879042 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c45f8584-52a0-44c6-b18c-ffe4e9c4ccd1 CLINVAR:1879042 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 290db790-7dc5-43c6-a48b-f1f960bb5bfb CAID:CA400031679 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49721a7a-6a96-42e9-8815-fb579ad59360 CAID:CA400031679 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60cff431-95d6-4f47-9084-61ef6c1a55a0 CLINVAR:1879040 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a0e00ca5-c8c0-4d25-82b6-3592656fccce CLINVAR:1879040 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffff36ea-0a63-4f16-8af3-ca68241abb2d CAID:CA399806223 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ede6d39-1d4b-428e-bfec-84ca6ee9b0eb CAID:CA399806223 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79097691-666d-47c5-abe7-7faf12add0e1 CLINVAR:1879046 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1753dd9f-0c47-4784-9c28-2e61b3ee5ad7 CLINVAR:1879046 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1424c1f3-0e9d-406b-82fe-86fc1de50271 CLINVAR:1879048 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce25569d-2816-4509-b256-182ebddafac5 CLINVAR:1879048 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 814ba731-1be0-464e-9002-ac876a2b0371 CLINVAR:1879039 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2c0a946-2c51-4d81-a919-4664e80151d1 CLINVAR:1879039 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a2836c5-4e7f-4c9f-96a8-d3270d7b90fd CAID:CA399787972 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 150dd81c-ce81-44eb-97b6-d42a8d5ae591 CAID:CA399787972 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b95d117f-333b-4b53-ba59-1de02e0917d7 CAID:CA915940334 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d26a893e-5393-4133-ad8b-95d3798563f4 CAID:CA915940334 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6e3fcd7-efb7-41e4-b178-932b826c6fc8 CAID:CA915940374 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d3e19e0-388d-475c-bfa2-4ce23fe34d6e CAID:CA915940374 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1eb6a0aa-dd85-4a27-a1e0-3219e67f0cc0 CLINVAR:1879034 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c82f4631-4474-44d1-8121-4ba08c597453 CLINVAR:1879034 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66e6331e-d09b-4913-828e-35623977f035 CLINVAR:627151 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 678c1e5e-6bc5-442e-8ee7-678bd9753c94 CLINVAR:627151 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38a23715-19b5-4743-b147-6ba107e1eef7 CLINVAR:1879033 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f019fa5-343b-435d-8a96-b083f1cb644b CLINVAR:1879033 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01e6ab50-6d3a-4d09-9504-ee39095b7f0f CLINVAR:1879032 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9d94dbc4-0137-40f8-b984-b11db82d5768 CLINVAR:1879032 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 439a7fa7-c05b-4317-9479-f9cb5c827f9f CLINVAR:977126 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 969a8454-8f07-454c-bf71-6c7df66ede8d CLINVAR:977126 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e8af7b8-8e7f-4171-a751-a53e4429fd80 CAID:CA915940788 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 50951eea-7713-4bda-96c8-28f62e0b9feb CAID:CA915940788 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbe12931-9c36-4586-b649-d5394e96be11 CLINVAR:1879030 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2045dcc6-639e-4a31-b860-eef8f8e45952 CLINVAR:1879030 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fafd4e30-7f99-40ef-a40f-dc94937d4fd7 CLINVAR:1879029 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63f0d885-4f9b-4b97-9f68-0f966b2cc48f CLINVAR:1879029 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 492ff7cd-ffcf-48b3-9652-89c082f8a8ae CLINVAR:977131 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1ced157-d42b-44f2-b4e9-f3443eee91e5 CLINVAR:977131 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5b33707-1215-42b5-a8a6-d7636e1b1e60 CAID:CA400031690 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a6fc8b5-1b89-4ab0-9a90-f2c2a71c8ae7 CAID:CA400031690 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae4ea91d-754a-4754-b8f3-c8b219e26198 CAID:CA2573131753 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f33623d-a31d-4608-85fe-54c1d285292a CAID:CA2573131753 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65d226bd-a48a-4b96-90db-19089a425488 CLINVAR:1879025 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d12d65b-8c9f-40dd-86a0-d814649f6947 CLINVAR:1879025 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3beafd9-d29e-420e-9651-f4e1ec4f9304 CLINVAR:1879024 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d1da8af-3092-4346-a935-3cd23a6a4197 CLINVAR:1879024 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60e2d52c-c107-404e-8614-0951cc180a2c CAID:CA2573131754 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8df66867-b1f2-4b30-adf7-2635948650be CAID:CA2573131754 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61f28158-daff-4c69-bf8c-666b5283cfe4 CAID:CA8603039 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e279f5d-4fee-4927-8eda-6f990795b660 CAID:CA8603039 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bcf1723-de32-44fe-8779-317a6039b11b CLINVAR:1879022 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff1ba138-b818-45ae-8919-ba1c4c9ea333 CLINVAR:1879022 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60cae673-c4ef-421b-a0c1-c90c418d1d97 CAID:CA915940806 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dff3fc77-2e7a-4917-98b8-fb2ebc684144 CAID:CA915940806 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d6d7ad8-b748-470a-9b0d-26666ad2f9e2 CLINVAR:1879020 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d790b95e-4cc9-4b6e-842f-28bbe2691df6 CLINVAR:1879020 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f504dacd-a08c-49f8-8905-269ddf5e021f CLINVAR:1879019 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e9aab6b-2ddb-4234-a234-6aba327dd680 CLINVAR:1879019 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d71432d-9aeb-469f-ae8c-0992f1391366 CLINVAR:1879018 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b1381ea4-f134-4e63-83ef-37f27499ed74 CLINVAR:1879018 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0871780d-3755-455f-bc25-81dd5a41db51 CLINVAR:891157 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 279ddf10-f419-4194-ae84-c87f37d2804d CLINVAR:891157 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1eadd7c0-f394-42f7-9f3d-7c02d2752982 CAID:CA915940222 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c53e444-a820-4aed-aa16-66c830f1be85 CAID:CA915940222 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e5f6bc4-9e7f-444d-a4f4-a0d50955271d CAID:CA8623068 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a5c7ab2-984c-4244-a85f-4c0844430ba0 CAID:CA8623068 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a094cf7-b7c5-4da4-9be5-b05f3e6c7b8c CLINVAR:1879014 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e77b504-434c-4887-a191-b18d452fcc9a CLINVAR:1879014 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9cd63fa-70ad-493d-be9d-8016d725a370 CAID:CA399802478 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68b78a53-fd27-429f-8612-7fa0c8614aee CAID:CA399802478 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0a542be-b4fa-49ab-b92d-bdb354deda0e CLINVAR:1879012 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cad6dd46-4f58-443c-8098-80f8362215cd CLINVAR:1879012 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aff022bc-2366-4c80-a2a1-77b722e4b98e CLINVAR:1879011 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2302b61a-200d-4863-8519-5d7e9bcafff9 CLINVAR:1879011 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8213e166-8444-44d7-99b7-41c666637811 CLINVAR:1879010 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3c05696-c6a9-454c-bd03-428f14eb50ba CLINVAR:1879010 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd4a4b87-b294-4a74-8957-67aa50a8fc32 CAID:CA400024958 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a36f1dea-4478-48c0-a533-433815bcd430 CAID:CA400024958 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7ec5e95-0c3f-4577-80f1-c1a10a9c9f54 CAID:CA399806951 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd67cc57-1d02-4a2f-9cb0-3f8c1920094d CAID:CA399806951 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a004e16c-90dd-49aa-90eb-6e51cefc3d0b CAID:CA915940223 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ccb308c1-2136-47e1-bbb9-46cf3a6c2bc8 CAID:CA915940223 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38ba9ab8-e09f-4251-be31-1b1a1dfd72ae CAID:CA399792888 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf89a793-f1f9-4843-9e52-125e5c954c80 CAID:CA399792888 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eddd868d-f1ad-48af-8996-e08855a15ef0 CAID:CA400028645 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91b5d4e5-4522-4b68-9fa0-61ebcbbed9a0 CAID:CA400028645 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcf3993b-50fa-4829-bf11-a3845248df23 CAID:CA399802559 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 531d0a24-3952-4081-bf3a-386bce1e1818 CAID:CA399802559 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e024504-4cbc-48fe-84fe-4a59743b1faa CLINVAR:100811 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7aa8610d-eb6e-4bab-a2f3-2e9217c5fee0 CLINVAR:100811 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 959543d3-d6e7-4f9e-a702-ab020175bd2d CAID:CA400029664 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a3b2a61-4169-4b49-bb3c-7451ed21387f CAID:CA400029664 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 810d569a-6eb1-4656-96df-14c3b8433145 CLINVAR:1879008 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 48de438f-8e43-48d6-aa51-7e138cfea9a9 CLINVAR:1879008 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad581fbe-040c-4a0c-9ab5-ac3b3cb6155b CLINVAR:225919 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5737cdf4-285d-4943-9dd3-c882334bf1fb CLINVAR:225919 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 993a5940-54d2-469e-9003-49b33b68e7b9 CAID:CA6748745 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 145a3d64-df10-4e9e-b0c7-cd28c705642a CAID:CA6748745 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7af7ff4-ec7d-4500-804f-eadedc8db0a9 CAID:CA386299735 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e68679ff-0329-436d-b0f8-5cd108fbe695 CAID:CA386299735 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff8d376c-350b-46d0-8e49-c41cd6609bd9 CAID:CA386297078 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05b388a5-775f-4d2d-a63f-b785b96724f7 CAID:CA386297078 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e6e4c31-5e8b-4854-8da0-93cfcae01e6f CAID:CA386492906 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a0a29c4e-0b23-4e69-8de2-e4fb0f485c7b CAID:CA386492906 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 756a2227-4436-44c2-b331-4a29efbbb957 CAID:CA16020960 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1d4fb49-ae2f-4f3f-bb91-47c16acf946a CAID:CA16020960 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70ce8d71-5d79-46d6-b9dd-657462bd8a70 CLINVAR:102564 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c796771c-ce7d-4ca4-bd34-4e8908f91c57 CLINVAR:102564 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16596e65-69a7-412a-ab9f-838195c55d7c CLINVAR:102653 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7159385-e06e-41e4-bd97-f9125077781b CLINVAR:102653 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2231c267-374b-457b-a961-a3fd8ce4ec21 CLINVAR:102574 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fc7ac9a2-46c7-4346-a8ff-f4882c20d0ec CLINVAR:102574 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82a48217-950c-465e-9511-2e51ab419f2c CAID:CA481331323 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce667fa2-4234-4777-9d21-a65c1091cdf8 CAID:CA481331323 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 583be7d1-1c72-4064-9360-38b63c2080f1 CLINVAR:102603 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77d76168-ce4c-4bfb-a906-ae9911d7f493 CLINVAR:102603 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d852f385-260d-4a9b-83b1-6f6851110eb4 CLINVAR:102730 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86c20114-77bc-47e0-b3ea-6e8dad5412e6 CLINVAR:102730 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66a826a5-2157-48fd-93e5-768a216eb402 CLINVAR:417917 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c137a57b-0d74-4848-8329-6e1bc830b127 CLINVAR:417917 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eda33439-d305-4e34-923a-bff5b67d35cf CLINVAR:854401 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 62843eca-a91f-4ab4-9c54-d99c17887c24 CLINVAR:854401 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3891d8e-3a9f-4c61-a245-2bdf6e3eb920 CLINVAR:474895 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ba8b8eb-9e3b-4348-8741-b6621d3df447 CLINVAR:474895 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d03dad8d-f533-4535-9fa6-93c6a79c77f1 CLINVAR:971356 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95efed90-5ac3-43f5-a9d9-b86f1c802e3d CLINVAR:971356 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 830e270b-878a-4880-8546-34892dceb7cb CLINVAR:555644 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e29da41f-7b0c-4ec7-aa85-d4bd4ed034aa CLINVAR:555644 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c24178fb-b105-483b-be1c-aeafb5a32b8a CLINVAR:661308 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e5a2cd7-adba-4c23-8f31-2084d6098fab CLINVAR:661308 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d85f010-6c1a-47a3-8a4f-88b87a1082d6 CLINVAR:1632 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b0df7e9d-2218-4bc2-8740-519a5258ed51 CLINVAR:1632 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 261ebf19-0f58-4d19-abfa-31b39eec3797 CLINVAR:203592 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db24075e-b0b3-4440-837e-c37a4aa156e8 CLINVAR:203592 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 328b69bd-b653-47e2-886c-a3d138347438 CLINVAR:839947 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 68d7cccc-e3a2-4392-b51b-6d44a5540013 CLINVAR:839947 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f70ad9b8-ca45-4f77-8d42-cd09b305ded5 CLINVAR:92290 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 503afb5d-b255-408d-b056-31f188e57a02 CLINVAR:92290 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69bce75e-5381-4e58-b34f-d0f501abd199 CLINVAR:21016 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80063f33-9854-4475-89a7-5b2752bd428a CLINVAR:21016 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 038295bc-d5cc-4f4d-bb81-27b3434a916d CLINVAR:1634 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f100166e-fa41-4951-b078-ca2258efcdaa CLINVAR:1634 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3ff0a8b-7170-48d3-8ef1-ab351ffc8115 CLINVAR:21019 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen daab707d-16e6-4bbb-855a-d416e6cd33f1 CLINVAR:21019 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95549d14-056a-4fa5-91c8-8dfb36c7452f CAID:CA1139532270 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d41f9bd1-46f6-4786-b21a-9f99cacb3687 CAID:CA1139532270 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad710fd2-f8e5-4258-b9f0-8775a9bc223b CLINVAR:166641 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 371d33cf-4200-437c-a187-13e653ff1d97 CLINVAR:166641 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0994a30-f466-4d04-9066-adfbd98317da CLINVAR:807359 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c97939f5-89cf-4b38-a4ab-e2db2475a425 CLINVAR:807359 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2cd0fda-5028-4a98-8a59-722090ac7d2d CLINVAR:370717 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34844932-17e5-4ff1-b6ea-e2280353a673 CLINVAR:370717 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1a43717-5edf-49ff-9123-ba8c6c348552 CLINVAR:581080 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86a81dee-b379-4ebc-89bb-4b7e2e12ce15 CLINVAR:581080 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38428222-0ea9-4dc5-bf40-b0d35efdce8a CLINVAR:92283 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 113a8467-17b3-4dc0-9dfb-2e8cd2494abe CLINVAR:92283 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d4484c1-ca50-4556-926d-0f3fa4fa4b1b CAID:CA916084367 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d97ac15-1237-4380-a4c4-1560e2b8656f CAID:CA916084367 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c5d5c84-ddf9-4ab2-b30d-e5aa1b40dfc1 CLINVAR:370770 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0eb1cfb8-b189-4412-8a69-fb66a33390b5 CLINVAR:370770 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d711f247-6eb5-46a7-80b3-8a4b6304cd90 CLINVAR:166646 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4799eaa-cc5b-4d22-84ef-9f3d2aafc7a1 CLINVAR:166646 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14bebb9d-ca84-492e-b096-4c3e79b187a1 CLINVAR:932835 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 206502cd-144c-4905-ace4-4635d3b326f1 CLINVAR:932835 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 815629db-d706-4c9d-8fa9-f7444ca8dbed CLINVAR:557136 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08eaa160-4b06-4379-83ac-51ef059d0afd CLINVAR:557136 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8372ece8-806a-49b9-95b1-067d4f0191af CLINVAR:418698 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba1226a7-4859-4708-9ff1-892afd4954ef CLINVAR:418698 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbb2d223-f76f-4644-a0dc-cb754a834a63 CLINVAR:1075156 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ede2b32-b9f8-4f6b-a518-c5ccc5f67b80 CLINVAR:1075156 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35ba2f96-4d6e-4ccb-bf70-355fb1376c4a CLINVAR:1622 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 43c2ab8f-b573-4dc3-b983-c27e2890aca2 CLINVAR:1622 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5c3e196-b168-401c-98a7-7b0b9a3a3ca4 CLINVAR:932851 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 015eb3c5-3dd7-464b-a0fe-f81b764efdf4 CLINVAR:932851 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b81f1d8-0c77-4c90-8978-1cabe22904ec CLINVAR:810875 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4a1e96f-d7e8-4314-8035-d243485c5ad6 CLINVAR:810875 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c17fe423-234e-4bea-b4b7-23cec85986db CLINVAR:812785 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b86011a6-3b87-4654-86c8-5d6c6f4f3550 CLINVAR:812785 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02d3653a-1364-4a0e-b077-e84e788f9360 CLINVAR:203595 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f4167dec-e5fd-4369-bf35-d9468697a6f8 CLINVAR:203595 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 252c8e6d-7558-496a-b290-3eeb54f0a89a CLINVAR:932788 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee236340-1cfd-48ed-b463-230ad357bd42 CLINVAR:932788 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7db3c18-fad6-4984-af0d-3de36bf3cca1 CLINVAR:439361 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 45be2c8c-3abf-46de-9c3f-f14919d29fbb CLINVAR:439361 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8c286d5-083f-4d93-90c2-09e3fb99b941 CLINVAR:1073505 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e8624702-ebdf-4041-b6fa-8cce3a066acf CLINVAR:1073505 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbc7a647-4747-4a94-bf18-d4da39127320 CLINVAR:876022 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 555861b2-0cbe-4022-bbea-7ddfff349514 CLINVAR:876022 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 020514a6-9545-4159-983f-f4de0826016b CLINVAR:1810373 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1313bca5-5fe9-475a-b6d5-890095096f6a CLINVAR:1810373 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e773d498-7687-4ebf-9212-f2206cf89ea6 CLINVAR:1810374 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2436ce8e-5215-4c64-8b64-e45d591d160d CLINVAR:1810374 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1975fe40-aff4-429d-9168-974d97960bb7 CLINVAR:1810375 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ceb6900-31c1-47e0-b572-cef873eeb1c3 CLINVAR:1810375 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fb1fa8d-d5f7-4868-9dea-f87c9c63d913 CLINVAR:1810376 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a69b4d4-0164-4b4a-a67c-04cdee46406f CLINVAR:1810376 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e868c716-caba-4906-acb5-dabe36c1a225 CLINVAR:1306862 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26f291f6-231c-452f-8b48-be0e15a3ecf0 CLINVAR:1306862 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29f08289-ad1e-43f6-ac9c-ac005a9aa147 CLINVAR:1810377 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a60deab8-8afd-440b-ad42-811886d83ab4 CLINVAR:1810377 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bff23138-568b-4952-b640-e9431f338897 CLINVAR:1803197 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af364321-5f44-41f3-b2c4-8ddf246feff7 CLINVAR:1803197 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9c7e515-e863-4c66-8383-c3a6cab37298 CLINVAR:1810378 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7a7a3e2-1694-466f-b06c-0547b6748a40 CLINVAR:1810378 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8056a84b-f5f0-49e7-bc20-44a85179be00 CLINVAR:1810365 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d321d594-acac-4e61-af62-0a562bcc2e65 CLINVAR:1810365 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17ebb46c-7b0f-4fe3-be82-218422430334 CLINVAR:1684936 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c297bebe-b0f8-44c1-8404-9343928f8291 CLINVAR:1684936 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e862d298-550b-42df-8f30-54f047d62867 CLINVAR:1810366 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20508b79-329f-4d2d-9921-4cef2a5d4171 CLINVAR:1810366 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaf46fcc-11dc-47fb-b240-7c0fa1d1e4a4 CLINVAR:1810367 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a20ece52-51d9-4d29-9226-2375127b4ddb CLINVAR:1810367 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c8d7536-2f07-4fed-ae99-55195a1e087c CLINVAR:1810369 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8a488fd-11c4-4a54-833c-a582ce4aa961 CLINVAR:1810369 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ef3683f-04e8-4786-9df0-ec42676d5d5a CLINVAR:1810370 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7209061e-5885-4587-919e-8237b3e46786 CLINVAR:1810370 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e12a67a5-3b50-438b-8e2e-e0c2c2efb13c CLINVAR:1810371 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4828197b-cd55-4520-ace5-c1eca3545510 CLINVAR:1810371 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9fb3dd3-a7e3-4841-8d92-78bed4f155c3 CLINVAR:7957 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f4445af3-871e-439b-a78b-01806b6aa5a0 CLINVAR:7957 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84084258-b42e-4432-8978-e496fc8505e9 CLINVAR:1810372 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d183e51d-acfe-44b9-a13c-f8bdf36c810a CLINVAR:1810372 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dc28611-07c6-4c60-8efb-0112bf11dc05 CLINVAR:1073342 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 767badf8-0444-48f2-8100-d5cb4b095fc3 CLINVAR:1073342 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3223a91-f99e-40c1-b752-254a281f5c83 CLINVAR:1628 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 493f2dae-bba9-4d15-bd0e-17c488792a20 CLINVAR:1628 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a97c869c-7804-48eb-b809-1fb0da143d49 CLINVAR:818026 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cebf8fd4-c17a-42e3-89be-4570d1e5f2d5 CLINVAR:818026 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 446622e8-c158-4f0a-8723-124db7125495 CLINVAR:936835 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 700c8cf0-4cd2-4505-a762-43b9ad681f92 CLINVAR:936835 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6106ed7-7d22-4bc0-b589-7b0472432d0f CLINVAR:557078 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 74a0ce22-41ea-48b2-ba95-983a866b243d CLINVAR:557078 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 211b19d3-7895-4930-992a-8155162457d0 CLINVAR:550315 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2bbe966-f5ee-4783-be2a-a7fa63e12d01 CLINVAR:550315 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cc0f6cb-5d16-4af2-abe0-4bdb175121fd CLINVAR:474901 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22e1526f-417c-4d1e-bb1b-8093f00f54ce CLINVAR:474901 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cbcb3d9-5757-4225-a873-3c283f5899fa CLINVAR:203591 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6be3030e-f9b0-4c13-97fc-477960b6f6c6 CLINVAR:203591 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faa1510c-180e-4c6e-b922-db199081c97b CLINVAR:595610 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e1ef654-5613-45a4-afef-b7879f19bf4e CLINVAR:595610 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 414bfc9e-23a0-4a82-a7d5-557758ce37f6 CLINVAR:194317 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb2d5379-3f4f-424e-981b-7c05b3ba63e4 CLINVAR:194317 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ceab16a-b771-4d14-9578-74ff7d9045e1 CLINVAR:429730 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen de92024c-59fd-4840-aa22-18334ba638f5 CLINVAR:429730 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43812551-65c9-47af-b6d0-a947f418f5d0 CLINVAR:932833 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3faf225d-939c-4623-be8c-5c825d8d06b2 CLINVAR:932833 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9545e2a9-bc93-48a3-b94e-50c0c861fb96 CLINVAR:379145 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 45ac8891-20d8-4114-a8e2-68cecfcc69b5 CLINVAR:379145 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca42b761-0e50-44d2-9761-506c994ecfe7 CLINVAR:4035 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bfcb492f-c216-4fbe-abd0-41efec27c5ea CLINVAR:4035 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93cfc155-4ea3-42e5-b96f-2087ab92ffc9 CLINVAR:972747 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c9456bd-4a1a-4e0f-8895-3285c7d8a9cf CLINVAR:972747 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f102e8c-6a32-4bff-b07c-cd905e9e2a7c CLINVAR:198393 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e19163a-9077-481b-ac9f-ff947dc227ca CLINVAR:198393 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bce9696f-6027-4fa2-be10-3e20c9bb0f8c CLINVAR:930445 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ada467a9-baac-4bd8-841c-efd354c0c8c3 CLINVAR:930445 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a8489b4-355a-4293-817d-0d886c5519e1 CLINVAR:495664 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52fed63f-2240-4365-9dfc-430c30d4a2b4 CLINVAR:495664 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8b27711-2f3e-4da7-98ea-c0f057336626 CLINVAR:550825 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 717657a8-7207-4fcf-a6ac-752e691e01a4 CLINVAR:550825 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 489ec2d6-7e88-4dcb-9ba9-a1e98eeccb07 CLINVAR:283230 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f49b730b-efbb-4550-b352-fddf774f3b47 CLINVAR:283230 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 490d1ba0-ed43-43c8-bb1a-0f12ccf275eb CLINVAR:557811 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c6cde05-1cf7-4fb1-b3e8-1d55c31b03af CLINVAR:557811 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bedd14d9-a142-4fb9-a5d2-83e86dff327e CLINVAR:1308288 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aced28b0-a68e-4dcb-9349-62be1b46dff7 CLINVAR:1308288 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e5cc953-5d96-40ed-9356-b76a54619be3 CLINVAR:597944 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf23a875-f329-432c-9af5-61df2bfeebbf CLINVAR:597944 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c04f0c3c-4555-44a3-8373-5679d4cca2fe CLINVAR:237861 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af24f7fb-005f-471e-a3db-375d4cf0da32 CLINVAR:237861 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05fa8ef7-7a54-420c-b9e9-69fd83bf3d5e CLINVAR:251895 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f594704-af97-4a89-ba63-5300fa4ee745 CLINVAR:251895 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dd40c90-ac0f-4726-b0ad-f5f2aba32d64 CLINVAR:252294 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 124f0ce2-57f7-4bee-802a-4ba91d77e7d5 CLINVAR:252294 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e89f202-489b-4554-99b9-d18e4ae7e238 CLINVAR:252295 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61fdda09-070b-45af-8331-6273f115329d CLINVAR:252295 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbd0f778-5c08-45a7-828d-8fb1effa95e4 CLINVAR:251138 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0afbff8b-d51e-4a4b-9b33-ed7e6a139deb CLINVAR:251138 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdbae4b0-ee27-41a5-b121-1f39d89b8760 CLINVAR:251876 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23ee60fe-3293-4752-96e4-79180763fccd CLINVAR:251876 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0590f20a-19c6-4e63-9f96-98f7935ea539 CLINVAR:251808 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 595c7179-2e55-4cfa-85f8-d57c95ad4ba4 CLINVAR:251808 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 228876b5-958b-49a1-b3c4-f45805aaa1fe CLINVAR:226382 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 039973a2-059f-4e6b-8587-86db2f1844ce CLINVAR:226382 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19f02c3f-27a0-4607-9047-d87aee537bb4 CLINVAR:183129 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9d2e61a-88e8-40a9-aa3d-727f14f04745 CLINVAR:183129 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a84527bc-ed9e-4d5e-b391-cb05e96ad11b CLINVAR:927435 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ecccdfd-235b-4770-ab5b-a91170174324 CLINVAR:927435 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed240add-3a0f-44ec-94cc-d76b1b5d0d77 CLINVAR:430743 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6838141-e9ac-4e54-aa60-f44d45dfbdb6 CLINVAR:430743 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c3e57be-aaca-4860-a82a-58ffd5f74986 CLINVAR:252325 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f56ce85c-949b-4182-b5f9-f4a5e01a4765 CLINVAR:252325 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc4cadc2-5a2d-4a44-93a6-4991c6f44ea9 CLINVAR:252110 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 323b749b-a88c-4d64-b5e9-348106ff079c CLINVAR:252110 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a630a8a9-7318-43f9-b537-5e2165ab2519 CLINVAR:252109 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f92a53d0-f805-4d28-950b-9521c0aa6eaf CLINVAR:252109 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36549de8-522e-411f-8cf9-f87acfe71ab0 CLINVAR:438327 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6c40a22-1d50-4fc9-80bc-eaa4af94674f CLINVAR:438327 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8527e925-5b15-4b5a-9100-d92feaa1038e CLINVAR:250946 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b87ff29-9c03-4de2-8fb2-103b18df6ac4 CLINVAR:250946 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da7b77db-053a-4954-98b8-98a50347ee32 CLINVAR:251097 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04489a7c-2eaa-45b0-9be0-4cc6de7c7e73 CLINVAR:251097 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce98e5f0-652e-4971-9b22-c4af6607eca8 CLINVAR:252258 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34f1acd2-1e95-485a-9fec-89530107c814 CLINVAR:252258 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b25fa8e-4873-4350-8309-4c31c14b482f CLINVAR:403628 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4fbab96b-c7fb-4fbe-bca6-1ba1c3c51b4f CLINVAR:403628 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc03464c-b8ee-49c6-b5f9-01623e7130e8 CLINVAR:250982 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f10315a-e58b-434a-ae15-0338c819aac6 CLINVAR:250982 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a929ac0-05a9-4b2a-ba57-0b40545dc021 CLINVAR:919564 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4b7490a-3e8c-43f6-bcc4-ec295723b2e3 CLINVAR:919564 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb508efe-0161-4be8-b956-38c47f5b298f CLINVAR:252065 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc289377-38c5-436f-85b6-7d81deb251cd CLINVAR:252065 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dd986fe-2314-4749-957c-f13a356427dd CLINVAR:251040 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f848b2a8-c818-4b1a-8437-731bf467737f CLINVAR:251040 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a36c4298-8c60-46f0-b160-e29b6c531aab CLINVAR:523722 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fd94973-ceff-489e-92e2-dad46c9f748a CLINVAR:523722 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20240351-97d2-443f-8f7b-4d5f7f8bb240 CLINVAR:251087 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8339cfb6-b194-4d55-80b0-4b2334506bc5 CLINVAR:251087 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2021cd48-ed3b-4902-9fbb-27a5477f518b CLINVAR:923296 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab32353b-3cf9-4132-9b0d-c8e3b3a302a9 CLINVAR:923296 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f45fede4-e01e-4756-b082-fc868389e6d6 CLINVAR:430774 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5afb3ac6-5456-449a-9443-bd40016f7703 CLINVAR:430774 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d86baea8-8c0d-47b6-a050-0c0ce21895ed CLINVAR:183115 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c3eda87-b8ee-4231-9b18-721d5e38da02 CLINVAR:183115 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6b06580-e3fa-4236-b8e1-4cff296e5245 CLINVAR:252022 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a96db18-9c5c-4fc0-82c7-1196b023ff82 CLINVAR:252022 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ad47369-7cd8-440e-93a9-74cf09a916be CLINVAR:441222 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e62d6215-fee8-4ca8-b63b-2b47393a2568 CLINVAR:441222 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a60d3f27-ac7b-429c-8fe5-5da656a75e12 CLINVAR:183125 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 495e7d54-f727-4db2-977c-edf0a94583cf CLINVAR:183125 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84b32ad4-1576-4f2c-9ebd-f8146db7325a CLINVAR:252036 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2081e49e-7f54-4123-8bbc-8855a3f3d7c3 CLINVAR:252036 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a38619a5-ff82-4314-a559-1b0b57e9f442 CLINVAR:424578 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81eddc89-3da3-4af3-b9e6-79f73c28f475 CLINVAR:424578 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe752612-31ee-48f9-bfec-2a70a4fc288a CLINVAR:456652 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d8eb9cf-ac87-470b-9184-be73f4db1611 CLINVAR:456652 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8077a72a-f226-45a4-bf3f-2bf48ce3e34a CLINVAR:252071 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cbe4b0f3-5f05-44bd-b934-58ac71330fef CLINVAR:252071 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7cb948b-1b1c-43a8-9d8f-4be1a2947515 CLINVAR:251774 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 233c3f6d-de39-4f6f-8389-228a14de933a CLINVAR:251774 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c967df4-4b88-4d16-9151-a65dd389a954 CLINVAR:251773 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 865ed122-1361-4d2d-a899-a62af65fcc0a CLINVAR:251773 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c62f124-31c7-4c33-9e61-5ad28db1c497 CLINVAR:251775 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6979d6a-413a-44df-accd-bc293e65d6e2 CLINVAR:251775 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c90ee31-887a-45fd-82cf-b9fa5302ee97 CLINVAR:496018 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64dd6c43-8a0b-452a-ae2e-0ba7c7a4e5dd CLINVAR:496018 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19888f80-2bdb-4c37-b3f1-04903f3739c8 CLINVAR:251510 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 44d3182a-0d92-4075-9682-8388a137b112 CLINVAR:251510 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25c99af4-c4c1-4e3c-be82-4245af8328ef CLINVAR:430742 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e96ea17b-6331-45ef-bb53-b1e0999f9de2 CLINVAR:430742 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 525a1c63-118a-4881-8034-023f4b4242a5 CLINVAR:924646 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen adae4e00-a10b-4dea-96a8-037ffe741923 CLINVAR:924646 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f6279f5-bef4-4e30-84a4-8de71dba13cb CLINVAR:251704 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 97dcb508-3c86-431f-a842-dd586662f8ff CLINVAR:251704 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1fe3448-04d9-4072-934c-38a7a58200b9 CLINVAR:870321 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ea4b59e-ec48-485f-b583-feff49cc33db CLINVAR:870321 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2347f13f-fceb-4a4a-abbd-4c8ea33b9670 CLINVAR:440630 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f82738fb-3ef2-4f4a-ba99-160751cc939b CLINVAR:440630 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1711e94-7d43-4e36-a009-9a70d196d7c7 CLINVAR:924165 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf9af655-a347-4e0b-babc-cf91964630e4 CLINVAR:924165 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2d099ee-e645-4840-8438-a66bca1dee65 CLINVAR:250949 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a4b0f48-0f1c-45cb-a2d0-15010232e638 CLINVAR:250949 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8da77c50-7399-42a6-892b-7a3a029931a5 CLINVAR:250952 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca43b867-9731-4018-bb46-535a4afd424b CLINVAR:250952 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02d904bb-dbe5-491d-be7e-68d48bee3015 CLINVAR:430745 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 602f83b1-3641-4775-bb84-4151aa291a72 CLINVAR:430745 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fca124e-46c1-4f83-a691-c74bf04dc4f9 CLINVAR:252046 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0496d5e1-b5dc-4653-bbe1-4a1c00fd3a4c CLINVAR:252046 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26c9fb44-46c3-48ef-ad96-e56a7995ee20 CLINVAR:226304 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75cc977a-81e9-4c7e-a539-b95fc9db3ab6 CLINVAR:226304 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eda2235-40a4-44e0-9947-5b2ab19b6d72 CLINVAR:183108 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 58e6ccc2-9c38-472f-b948-07ca7457b644 CLINVAR:183108 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dee0924-c653-4dd9-a966-baabb1807ffe CLINVAR:250971 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d9582ce-6a7e-4a35-963c-89479b98175c CLINVAR:250971 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b850e655-7797-4525-875b-5bf086ec9f51 CLINVAR:183094 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e19e2e4-5132-408e-ac20-4e143e399a32 CLINVAR:183094 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f969073d-bc38-45b0-b98d-8e566643f484 CLINVAR:927149 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 375d70ec-b975-4bb0-a074-b46a57711e12 CLINVAR:927149 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61c3ba4d-30be-4d5a-b1c7-be82d46c3970 CLINVAR:440602 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 574e3a59-56bf-45d7-ac4d-a36df11c17e9 CLINVAR:440602 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38e2dca1-ca65-468d-9d2a-c2b12b49ac3c CLINVAR:251447 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ef62eda-2f0b-446e-96ff-301e2a2a1067 CLINVAR:251447 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d9a1a29-c4c0-4476-ba26-d3e678446a8b CLINVAR:456412 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 565ad8c8-aeb4-4747-af28-34f2b7ed3464 CLINVAR:456412 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d306041d-b530-438f-8431-7099669323be CLINVAR:143526 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 642d967e-67ee-417f-a3fa-7466801f289b CLINVAR:143526 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76e5133d-8d8e-4773-9707-b7e189965919 CLINVAR:690207 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8be561b0-5c10-48b5-9c0c-db0757746c86 CLINVAR:690207 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31eef21b-c5cc-4eea-aec4-447fb2b96ad4 CLINVAR:9586 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d75e479-c1e0-4633-82f2-a403e61b24bb CLINVAR:9586 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0345528a-6305-4316-b157-631057c702a6 CLINVAR:42226 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d0b6aee-de2d-49f6-995b-54c0c0f9644b CLINVAR:42226 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e406aeaa-fa53-48ff-b404-4bd3bf573e1e CLINVAR:689871 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f1f50dc0-0719-46e7-8995-724450b23108 CLINVAR:689871 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3e48779-bd8b-43e2-a864-2efb5b3f34a3 CLINVAR:9612 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc9416c9-a684-4775-bc6f-2dae06750887 CLINVAR:9612 biolink:is_sequence_variant_of HGNC:7486 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67f2e9d8-5b87-44b2-ab43-5d35e65a59dd CLINVAR:9624 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ba99921-a494-4c07-ad80-f74b6b34830d CLINVAR:9624 biolink:is_sequence_variant_of HGNC:7475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f15f09d3-349d-4e8f-880a-c274ac1a8806 CLINVAR:986494 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2485098a-c2c6-4cdc-b36b-0671616747a7 CLINVAR:986494 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8249fde6-eb9c-47a3-a99d-7230caf6a2d1 CLINVAR:986422 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 582dad76-79a4-4cdb-8a25-6ab369987b0f CLINVAR:986422 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a1f0173-cd05-4942-91dc-210e3150d2dd CLINVAR:9566 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 80f82250-2e19-4e48-95cb-0ec2a0a2cb4d CLINVAR:9566 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5b97d11-91af-41ea-83a6-b9d42cbce96d CLINVAR:932827 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a00b786-df49-49d4-8192-56c9d49d23cf CLINVAR:932827 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bbf6921-c58f-471b-9eab-12f00d747635 CLINVAR:935797 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9358553c-0afe-4e42-aacb-a328a21781f0 CLINVAR:935797 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d0a1dc8-6876-4da4-96fe-7eeee3099a0f CLINVAR:932845 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d5ae8941-fb66-49f7-9c77-6adf415c9e07 CLINVAR:932845 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81d233f8-f2aa-44ab-b785-67b935c542df CLINVAR:690181 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 05fe5824-fa53-4cdd-b7ca-b28fead39933 CLINVAR:690181 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8646a1b3-7769-45dc-8875-fd3c9cbb93cd CLINVAR:689874 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8226976c-71a0-4566-8629-eb4849fcace9 CLINVAR:689874 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 863109d5-43e0-4b2b-afbe-b00cbc21c963 CLINVAR:379889 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b40afc0-e28c-4ac0-b4ac-dfb8effdfc0a CLINVAR:379889 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen add2ad5e-5382-41f3-9310-c7d06f53ce8b CLINVAR:225920 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e118e2c-1922-4d51-8c3c-825ee711535d CLINVAR:225920 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7d1c604-71e3-4ed1-94d7-b870633dfb3e CLINVAR:225916 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6253627-4a10-4bd6-b04c-59457978da37 CLINVAR:225916 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2af89677-2227-4707-a586-05db19da7439 CLINVAR:225913 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 469fba37-1e40-4e7c-91f3-d33d4e5ad46f CLINVAR:225913 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25f10400-d7d9-4bc4-ae21-20a76b32ead7 CLINVAR:917494 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d03bf434-bb93-43a9-817f-2350f966080e CLINVAR:917494 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7b7e2c4-bb66-477a-a973-3d42c35c965f CLINVAR:917493 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e45eebd-24cd-4f92-8359-464e7389aba4 CLINVAR:917493 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 601ff3ff-379d-4063-864a-735da970d4da CLINVAR:225918 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be40ada3-3b4b-499a-bc92-fcd395438ec7 CLINVAR:225918 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfeca53f-3d11-4d7a-a326-195bba0e2fc9 CLINVAR:225915 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9762ee82-fa18-482e-a1d9-53638f5aef86 CLINVAR:225915 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9004b1b0-4948-4289-a6cc-e451d9851587 CLINVAR:225914 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b60e6913-cd9e-48ba-bd2a-a630fe25e602 CLINVAR:225914 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54be226d-6ac3-48d9-9cac-3f47ccc143ef CLINVAR:1478699 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2206d6b9-2a32-4016-b41d-d5603ccb8fc1 CLINVAR:1478699 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2da6bd44-c740-4f11-897f-ddf9b9a8d5e6 CAID:CA392260686 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0ac55d4-aba9-4915-9bb2-801bedae06fe CAID:CA392260686 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bad029e9-a1df-461a-b708-762a442c9afe CLINVAR:2446453 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 599bb60f-5799-4f7b-a4aa-8570decd76b1 CLINVAR:2446453 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0daada42-2643-4704-b0f7-26f0590c2d00 CLINVAR:556882 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e03fd131-952a-45a3-a9e2-918f1ddc6b7f CLINVAR:556882 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e6ca949-e79f-4fc1-adf9-3de662884a61 CLINVAR:1487846 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 89980f58-4ff9-49bf-8bc1-442912e5bf94 CLINVAR:1487846 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23c8dce6-e072-4a0b-b93a-d814d89321ff CAID:CA1139532474 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ccd40dfb-07a7-4713-ae67-51743c2a4ef7 CAID:CA1139532474 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18f64e40-386c-4025-9659-c7979a17bb5b CAID:CA269524632 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d95e3a00-e19e-4400-bd37-3ad1c0d6c2cf CAID:CA269524632 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a921663-1ece-4474-8f2b-6cdef93e6c5c CLINVAR:2429790 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0df8c50a-064a-4f58-b712-5ec7f26cd56b CLINVAR:2429790 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa4602f6-cade-40ed-873e-d604acbe233f CLINVAR:645957 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ae2198b-5431-481b-a0e4-c0b114940b20 CLINVAR:645957 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca256e32-7914-4a93-bd96-7a94235b4114 CLINVAR:429154 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e9bf939-6df6-4f3f-9140-c96e46521e6e CLINVAR:429154 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0593f4a4-b98a-4e53-880b-3c007ac8aa2e CLINVAR:644129 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eafb5816-b5ac-4646-ba2c-eca722de2efb CLINVAR:644129 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f62130b4-dc3a-4060-ad64-881506fd016a CLINVAR:483408 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88b9609e-d490-4dd7-a645-865429e87264 CLINVAR:483408 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71c36995-6e93-44de-8619-1c12ce4cf73b CLINVAR:825868 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9551f81e-a8a9-4830-ab88-e9cd20c2ed92 CLINVAR:825868 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c49a68d-ed25-4a5a-b340-69141ddebaab CLINVAR:375463 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen adee483a-de55-4ed8-bdc0-a6962d09b5e2 CLINVAR:375463 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61280d8f-647e-448a-beff-ca8aaa555eda CLINVAR:866837 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af6fe669-60b2-46fc-8176-338695b3a543 CLINVAR:866837 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6725d057-fba4-42d9-a8a7-08eececdb24e CAID:CA913187307 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5207c308-3dfe-408f-9e25-35349a27b78f CAID:CA913187307 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1887f47f-90a1-434c-a8d8-c6183fa4d979 CLINVAR:92289 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a5ab61eb-ce95-480f-9318-7821fbb1d8dd CLINVAR:92289 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e1c53e0-309f-4766-bcfa-cd106a97490b CLINVAR:474878 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7537b468-3777-4932-a695-c4fff44f4e5c CLINVAR:474878 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85bd7ac9-8d2f-4e99-b04b-98d4099da743 CLINVAR:941106 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 70ff09f1-3794-41de-b128-79dd527fa897 CLINVAR:941106 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83b0e4ae-0866-4433-8c87-cb445122715b CLINVAR:932838 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4577526-443e-4ddf-b28e-47cf80d36061 CLINVAR:932838 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcf3c027-8aee-4b78-afe3-1772c4a2c102 CLINVAR:2429755 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1fa68f0c-9137-46c9-80bb-ee9d85af3557 CLINVAR:2429755 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8c6126b-9f36-44d0-a24b-264193338690 CLINVAR:2442270 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d48606d7-fbae-4dd8-a504-518038a56574 CLINVAR:2442270 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c794e28-4a2a-45f2-a52a-aa34bfbc3e40 CLINVAR:2442281 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0631703-a5f8-4f1d-9d76-78fc9719adea CLINVAR:2442281 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2176fdb7-0b42-4091-ac3a-4b838a947dc5 CLINVAR:2442286 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e743213f-f3c4-4cf3-bf1e-eab5dfd620e0 CLINVAR:2442286 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 747308d5-79e3-441a-85e9-f7801e11900b CLINVAR:2429759 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9270a6f-329f-4454-98a0-ece26b9cb146 CLINVAR:2429759 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93ae30ae-1b8a-452a-963f-2cefbdde6e3e CLINVAR:2442287 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f60877d6-57cb-474b-be65-bae868a8ef37 CLINVAR:2442287 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16c17359-a9d5-41af-a1b4-bc8939818cca CLINVAR:2442288 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de8283c6-c27a-456a-b702-d075fa977b25 CLINVAR:2442288 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76c8155f-dc0a-4bea-ba6b-e6fd50fe5f4f CLINVAR:2442290 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 990a88a7-7d05-43a2-9359-76d780dece50 CLINVAR:2442290 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 242b8f2c-6e82-4070-b135-41288cb86f7c CLINVAR:2442263 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3f713c0-44a0-4760-867b-0e47855cb4f2 CLINVAR:2442263 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e975509-3672-4529-874c-e2df5f18b477 CLINVAR:2442264 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9fd6dec4-073a-4af7-b63f-89b220f6819f CLINVAR:2442264 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19c1dd69-f8b7-4fb6-8f53-b060a32d8cd1 CLINVAR:2442265 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c342547f-26fc-4e46-8f65-d87896ee0ecf CLINVAR:2442265 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a1e9665-0477-456a-a6ea-a628313c1e5f CLINVAR:293716 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d062b1f-ec75-4f65-9ff8-c64a6257f3be CLINVAR:293716 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b478fac7-8366-4a80-bf81-68e87bab6068 CLINVAR:2429760 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen de6598ab-92e5-4cf3-a5df-9c81bfd7dde8 CLINVAR:2429760 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f29f272-ec0e-4015-88c2-e8e419316dcf CLINVAR:2442266 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8051f3ae-5cb9-4933-9ff9-330ed5952650 CLINVAR:2442266 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd01a853-db66-4f3e-8a4f-8a1bcba8d8cf CLINVAR:2442267 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f3211dd-7d2a-4284-a64c-e76dd2ff0512 CLINVAR:2442267 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d73431b-bab1-48be-807b-c41e89195ae0 CLINVAR:2442268 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0961ef0-0473-4042-acc7-1144ed4dd621 CLINVAR:2442268 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29b7718e-56da-4274-9a5c-4a70ddb5bee8 CLINVAR:2429761 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b0c941fb-2099-4753-9e48-25cfbcb72381 CLINVAR:2429761 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e140de7d-943d-43b8-8d5f-b8d7f671a123 CLINVAR:2442269 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95d345a8-e405-4269-9112-f6ac66fabc78 CLINVAR:2442269 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6634b851-06ea-4015-b879-0ba907398056 CLINVAR:2442271 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54353ee5-2386-4555-b0a3-8fde9fd2fdee CLINVAR:2442271 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7104ed7-2bb5-4115-832c-0af4998a2707 CLINVAR:2442272 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74659880-2383-47f1-8fe3-090ec9d89abe CLINVAR:2442272 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3578ee61-eb7f-4504-8e97-66bc71c5fb56 CLINVAR:2442273 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 444188f9-e979-4ad7-ae42-eba728a24c44 CLINVAR:2442273 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eae0faee-1616-4126-9c4c-1a7390bf94bf CLINVAR:2442274 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 746db076-9ae8-418c-b3a4-d0cf6c7b0487 CLINVAR:2442274 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7d9284d-8864-4123-8efc-0c4b3e519462 CLINVAR:2442275 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88f39850-e922-4be9-a9d5-38a55da65dce CLINVAR:2442275 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f998250b-a34b-4ee2-821f-4c51564d20e2 CLINVAR:2442276 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aad7e5c4-2eb0-41d6-b844-58d264d1641b CLINVAR:2442276 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e06e1727-1404-4378-bc42-722038a8ca2d CLINVAR:2429762 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed835334-db44-4006-ab06-ad6e6012105f CLINVAR:2429762 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 615ef00c-0b7a-45cc-8797-9cddebe1491e CLINVAR:2442277 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdf7dacd-5c70-4401-ac93-cd16da1aa661 CLINVAR:2442277 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0246e84f-ec4a-4917-848c-c89ba8c0e9da CLINVAR:2442278 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff74619f-fd82-4cd2-a20c-49b70031cd31 CLINVAR:2442278 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0dbba55-2c5f-4cc1-a8c5-e09a3ab9014c CLINVAR:2442279 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c090b5c4-abe8-4a8c-983f-1c98b97c5eaf CLINVAR:2442279 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2de07b66-7e43-4cd9-843d-5b8f57c3810b CLINVAR:2429764 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d6f79373-2c09-4d2b-9bb3-7f46bdf430b4 CLINVAR:2429764 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f0f34fe-71e7-4a2d-b8ff-3fd2feaa31d9 CLINVAR:2429765 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2729cb89-a265-43fd-b001-92eb342a2206 CLINVAR:2429765 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cea99a0a-0ff7-4358-a74f-5e877151b066 CLINVAR:2442280 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6478fd98-3843-4af8-99e4-114d3dcf4c18 CLINVAR:2442280 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a322a9b6-a1fd-429e-9395-d6e5d484c204 CLINVAR:2442282 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8b66a56-307c-417d-868f-0dff69682784 CLINVAR:2442282 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d621156d-ac86-4608-abed-5df28cb34dd3 CLINVAR:1439558 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c02d66a8-783f-403a-943d-eaed96a5858e CLINVAR:1439558 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e1e3daf-a1ed-4745-b265-3f51dc3524ea CLINVAR:2442283 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f5f088a-de0f-40bd-a942-e23cdc22442e CLINVAR:2442283 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dd90a2b-6bb8-4024-a3a4-f83979f95e00 CLINVAR:2442284 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2bdbc3ef-e0eb-45b0-b471-a53c69eec88b CLINVAR:2442284 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cee3966-927b-4714-96a0-95fb5ae17418 CLINVAR:2429756 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 782962fc-f0c7-4bac-a1a9-7de28bc490ca CLINVAR:2429756 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b274f540-6ac0-4e91-8597-3f1590de3d37 CLINVAR:2429757 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1401251b-f9de-4aef-bf6e-0a461f27f7c4 CLINVAR:2429757 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d7b09d3-7227-4621-9ead-7cb37df8619e CAID:CA8603502 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a5116d4-906b-4e24-bfa6-72c53d77e54c CAID:CA8603502 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6468abc-5910-41c0-b6f8-d354821fab80 CAID:CA8602740 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62790c8a-52ca-4e13-a003-c9059bafb95c CAID:CA8602740 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aff9b9e4-45e4-49c1-bbf2-d2e0e8885fb5 CAID:CA915940796 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92996735-2e38-4f35-9158-42c7af89e17a CAID:CA915940796 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3b08ce3-6641-47d7-9c50-15987170aeb3 CAID:CA400033003 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31bb143b-916c-4e0a-8a11-e3a00f62b2ad CAID:CA400033003 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b1088c0-987c-45b7-861c-0bf5aadc618d CLINVAR:890710 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 97e7d504-ade5-4202-a8d2-4dda40da7980 CLINVAR:890710 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a85a7a20-d61f-4a25-bb71-6b9355cf7353 CLINVAR:890713 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3cf238f-3d4e-48a9-ae21-07f70253cfcf CLINVAR:890713 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9fc75a5-7cd0-4043-aee4-2beec0bc0dcd CAID:CA8622991 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 502b00fd-de45-4d37-abbb-c50d256b7094 CAID:CA8622991 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd1a5024-d7e3-4acf-8f31-de6e3f917f58 CLINVAR:2498348 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 870d9f1a-07e4-4acd-b7cd-5af0206cc847 CLINVAR:2498348 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 223f2f5c-b704-4728-babe-7d88d23de23d CAID:CA399790399 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cfd7ad60-d62c-4cd2-8a7c-de6b20cc4dda CAID:CA399790399 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d3bb64d-b2e5-4b84-8cf4-77dd05559906 CAID:CA400029436 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76ad50b1-0ea6-4df7-b9b9-ae53227270ce CAID:CA400029436 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7babf23f-e83e-4c2f-9802-93d0fdc3a2de CLINVAR:2498351 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09d71c0e-53e8-48b2-9c44-f2b01e40c317 CLINVAR:2498351 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e54c8ef2-7b28-4351-8d1d-89c0d4c594a3 CLINVAR:9628 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4339481c-4b3c-4317-9840-8d7415c74d65 CLINVAR:9628 biolink:is_sequence_variant_of HGNC:7470 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e946f8f-6afa-492a-a68b-e125cc9ea08b CAID:CA915940266 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec3cd989-fe1f-42c1-bde1-b13616faf235 CAID:CA915940266 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd0cdef6-5da3-43ec-a7fe-e77b9e7d5956 CAID:CA915940809 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen abd13eb0-93b7-4ffb-8664-95b1d64492c3 CAID:CA915940809 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d3a46f4-fd22-4ead-84cb-8f05d081bcfd CLINVAR:892353 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2cb4b9ab-9d40-492b-86e0-fc2f9cd8752e CLINVAR:892353 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ff7793a-01ac-4eab-9eec-9aec5be29de0 CAID:CA399805912 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 357475c0-ac68-45c1-9b0d-a9ff7f4f9980 CAID:CA399805912 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5a5cf3c-a6ce-46ef-9b6f-1c4ee7343b34 CLINVAR:2498356 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60827f25-7e0b-4dbd-b612-fd473dab0b7f CLINVAR:2498356 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 812842d9-cbbc-4368-9574-7388dd835cf3 CLINVAR:143603 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 742079ea-77f0-448b-b45b-8a1e511e7c8c CLINVAR:143603 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7224f3f0-94c6-4c34-a445-0c3fc19ccc77 CLINVAR:324982 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af1ccf04-98dd-4ccb-9177-33332a816a62 CLINVAR:324982 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f3bb14a-393d-4dd2-af5f-29e76350b61d CLINVAR:371464 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1272faf6-c4e6-41dc-82d1-1a272d594d32 CLINVAR:371464 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e243ff14-40cd-4326-9430-b885f0acebf2 CLINVAR:555732 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9820a2b2-7dcd-4f22-96dc-577274b6f9c8 CLINVAR:555732 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12c98b99-cb52-4e4c-b2de-7b1eb50f4e9f CLINVAR:1676595 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb74b44e-c7da-4f46-84ba-2440f12328bd CLINVAR:1676595 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0960eb2d-9343-4337-9c7f-9feeab2c853e CLINVAR:825824 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cde4293e-9874-432e-b7c0-b28087801498 CLINVAR:825824 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 973ffd90-e3ff-4cb5-ad9d-aa08ec8a7706 CLINVAR:543574 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e399c72-ef69-4a68-9cea-97075527ee1d CLINVAR:543574 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfdc6cd4-c7d5-42bb-bd5f-5cf32ced3379 CLINVAR:570456 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ab412c6-1168-4cfe-97bc-7f424465f1b7 CLINVAR:570456 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca849b87-636c-4810-a6e5-7a298bd47f66 CLINVAR:1687567 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 83026393-ce94-4e5f-b68b-a7a1137c2f42 CLINVAR:1687567 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 059f49a4-4902-4806-a072-b4419bd19e5d CLINVAR:648917 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b034500c-b119-45c1-8716-acc280368f23 CLINVAR:648917 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24912d8d-4a03-40c2-91ec-802fbc40bd22 CLINVAR:1067574 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ad0556ad-44af-402a-8b27-edb49bfd1040 CLINVAR:1067574 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a51cbdf-c23d-46b8-aec6-6880b1ca716f CLINVAR:972790 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90e84cc2-65e0-443c-a51e-d0bb0cfc8670 CLINVAR:972790 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aa6ea9d-0c71-4f79-8683-28a8af238264 CLINVAR:982297 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b65fbb66-9898-4c77-bf52-ea8acf236c79 CLINVAR:982297 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65350806-ccec-4efd-86e1-3e67d5f297c0 CLINVAR:1037598 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 855f19ed-bd9d-48be-9e73-215bc854a3d3 CLINVAR:1037598 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e93d669-0048-477a-b88a-54d52350cc99 CLINVAR:92465 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26834694-5e8e-4c7a-a0a6-fbd5af0c5a79 CLINVAR:92465 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bde715db-b661-4046-8443-ffc3673f148f CAID:CA913184761 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4397342b-50f2-4d73-893c-404d06b887e7 CAID:CA913184761 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5d60cf8-e950-4fcc-912f-09a6d6c95334 CLINVAR:1353052 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bdbb979c-cdb6-4eb6-990c-fbeef0bb27d3 CLINVAR:1353052 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 281f1172-384f-4c36-a700-89e53da28b3f CLINVAR:11699 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a40c24e3-8f3b-4966-8754-62c2b1ccb505 CLINVAR:11699 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6d4b86c-2069-4b79-ae2c-11cd4fc5f65c CLINVAR:520792 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f2301c21-a2f2-4002-9dce-0ada328c8857 CLINVAR:520792 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39745410-8b26-4d24-a25a-ec4865653645 CLINVAR:430374 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86d0693f-9be9-4f0b-b286-db2f7fbf2100 CLINVAR:430374 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1ec9b55-9473-4e98-888a-8d2effb6c363 CLINVAR:844968 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4727dde-b5b8-4524-9a77-4dd129b97052 CLINVAR:844968 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 245508e3-134a-4f75-94e5-cd75da1ab8ab CLINVAR:916122 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eff565e8-ddd1-43fe-8c35-10c20d551042 CLINVAR:916122 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb1f4a36-13a4-47ab-b401-93a81bd3a031 CLINVAR:849693 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen de1875ec-c0ee-497b-85fa-d1d0a5550898 CLINVAR:849693 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3544a418-e8ec-401e-abc7-da105d600247 CLINVAR:939992 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61fab4e8-c847-4a7f-a13f-36c667c2dc93 CLINVAR:939992 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b519f69a-93fb-4918-832a-b78a294794a8 CLINVAR:2446451 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9464104b-c72f-4d83-abd3-af2912a7ee70 CLINVAR:2446451 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc6f5457-56dc-4344-900d-6f962d4db327 CAID:CA415084325 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d3f43d0e-3785-4252-b50e-9b5a46bc28dc CAID:CA415084325 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1db56e2-d8d3-4935-ae83-d8567470258c CLINVAR:1211026 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e3623d0-23c6-424d-bf78-26303d48e0a5 CLINVAR:1211026 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6ce599e-9e7e-4cc7-9155-15bd0937a83d CAID:CA415079466 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75a96fc6-27d7-4872-a363-ea5577c9af8d CAID:CA415079466 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30e9d2fd-ae23-48e1-9551-9dacfb2055bd CAID:CA2573334474 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ede86c89-923e-462a-9f14-184bb94fde69 CAID:CA2573334474 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3118c25e-021a-49a4-9590-fc3849aba02c CLINVAR:2446447 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 933a3770-88a5-4789-abab-c3e5885eacbf CLINVAR:2446447 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 258bc17d-1ba5-4929-bb2d-e3658cfce9f6 CAID:CA2573334479 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5e2d4f2-5002-49cd-aab2-e17449a8a1a5 CAID:CA2573334479 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90b538ef-d086-4585-a7ed-e9cf8101a38b CLINVAR:392462 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2f20c9bb-a770-497e-9cf5-0e86c6257b0b CLINVAR:392462 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35f3a369-6828-4ed8-9267-bf6f0e72a22d CLINVAR:689840 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 869635df-bbaa-4bac-a614-b0e2e087866a CLINVAR:689840 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d899d80b-7e63-432f-b27d-8e2882064e99 CLINVAR:9573 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4283b5c-d346-4bcd-9211-0572d6eba0ac CLINVAR:9573 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a5e0c89-cb74-443f-b201-b26e388a127f CLINVAR:689856 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86dedf83-4b85-447f-9482-14f5fbc6b602 CLINVAR:689856 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c171feef-72fe-43bb-bcb9-aec1096ce8b9 CLINVAR:9683 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01806132-78a7-4c68-8fd0-6bc4e7656f4c CLINVAR:9683 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0777ac37-a1b0-4a57-a9a8-0b10f1c3a64f CLINVAR:628229 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ca5bf48-6b3b-4f80-b92b-69ecd06a2685 CLINVAR:628229 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39e58fcb-2977-4154-92a4-e7d5a40aa37c CLINVAR:824698 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ca219ba1-6dc2-4971-a57e-bb149f8de078 CLINVAR:824698 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f60dedac-dd9e-4a3a-829d-73ab1be59937 CLINVAR:217982 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44093250-611e-4b5b-ac09-6c729bb0015b CLINVAR:217982 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 722ca031-3e79-41a2-a4dc-9f1b8882fe3a CLINVAR:804 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ec3c1cc-7f85-442d-9bfa-1cb736820cca CLINVAR:804 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a66cdca-7ff2-46ce-bbf6-14b43263e759 CLINVAR:411469 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec0a4ef1-1b32-47ba-ae4f-76c1ba782fa8 CLINVAR:411469 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c983476-c2e9-40ec-bcb5-2e7c86383224 CLINVAR:218000 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9381de31-29ba-459e-89a8-9f21d47e491c CLINVAR:218000 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08c4737d-33fa-4c9d-ad53-d1379b426b7a CLINVAR:827113 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd1af52c-cd19-460f-b98a-d1b024dfa9c2 CLINVAR:827113 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4ff054d-e532-4f1d-96a3-88e71a0d438f CLINVAR:418007 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 45f53ba0-c90b-4760-a2f5-f29ab7b01d88 CLINVAR:418007 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 210d0646-8bfb-40a9-9a5f-7466c5ab2215 CLINVAR:184999 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44db6f1d-1099-4e57-b861-e41a7760e158 CLINVAR:184999 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92f2fec4-6ee9-4fa2-bcc2-eb80137f2f22 CLINVAR:822187 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f768335-a59f-4e6b-8051-8e9688e17cb0 CLINVAR:822187 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1693c575-0408-491e-b68c-7fb92ae60590 CLINVAR:438864 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 20538783-1470-45b1-8b81-4906f93cd8af CLINVAR:438864 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b93712e6-cac2-4a8d-bf0e-9100fc1705a5 CLINVAR:826 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be4a1e1e-318f-4f73-a7e9-370a53f63a75 CLINVAR:826 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34cb0783-69a9-49dd-a9a7-d23ab8853b2b CLINVAR:230944 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4e11c90c-2691-48e5-b176-43ecc509e64c CLINVAR:230944 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f59456b-7a5e-44dc-b36b-d2ec5f189978 CLINVAR:411555 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b825c2b8-4d3e-44ac-b485-a388c3bd2a21 CLINVAR:411555 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 680f845e-351b-4e4a-8172-98e4c6ac790b CLINVAR:649594 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9977865-905a-4947-850d-35176333dca0 CLINVAR:649594 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05f95af8-ad1e-44fe-bcda-796c07040cc0 CLINVAR:490221 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d98af064-b642-431c-9ccd-946e4b63c8c2 CLINVAR:490221 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c32c891-a1c2-4e21-9b69-390f9444e3c2 CAID:CA658760617 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f2854c0-66d3-4a80-a623-2d8ced74602a CAID:CA658760617 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6e94be4-ac18-42f6-bfa8-788d4e986c0a CLINVAR:419202 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e2292a95-78be-4167-8a3a-8d70d8f54745 CLINVAR:419202 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19825fe4-4751-4b9a-b8fe-117e4307b88c CLINVAR:428167 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8af8e3d-81a8-48e7-b8fc-d2016c09ae08 CLINVAR:428167 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aca2695f-447f-45dc-a0ab-836254f57c8f CLINVAR:1393312 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cb28c6c9-2ac4-4997-b711-8393e4538456 CLINVAR:1393312 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc45fc19-d777-4fbe-be55-25bc486f1850 CLINVAR:428186 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 412176b1-fd27-4467-aa59-94c9cd14f907 CLINVAR:428186 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fb0ced0-e42a-4686-9d67-a7bce9e2fbc7 CLINVAR:469904 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00db04f4-2265-4aef-b505-f67ffde14dcf CLINVAR:469904 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57045460-fa19-41ed-803d-b27d6e4832ca CLINVAR:233215 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c176778-3a85-4a07-93ed-a1de9bc1ef7b CLINVAR:233215 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4f6e11e-befa-4c69-9328-8f81d873bca9 CLINVAR:862543 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb651d03-570d-45b8-9548-2ab33508df85 CLINVAR:862543 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33177b4e-64d7-48b1-b943-f27df968ee93 CLINVAR:816 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d7a3f21-f0b3-410b-adb9-4cbe19157ecf CLINVAR:816 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 323e5687-a34d-4d2a-a9bd-40b6bb0845ee CLINVAR:140839 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5419ada9-5bc1-4dea-9c96-2c5efca46874 CLINVAR:140839 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd53a6c9-efd0-4153-9e11-5295128dff38 CLINVAR:486786 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4801c5d-8a19-48c9-94e3-74ac148eda4e CLINVAR:486786 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2042f7ac-600c-4569-9e9b-99622cab663d CLINVAR:411472 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1f4c070-7c05-4595-b260-104693cdae3d CLINVAR:411472 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c22b3d75-a77f-4051-a4e4-a6dc8414502a CLINVAR:371858 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4ca05cb-3f99-4acb-b56c-366706f73cf6 CLINVAR:371858 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6e7804a-d979-4268-ae20-ecf1c48c0128 CLINVAR:486740 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f8ccd7c-c421-4164-8a67-14798007ad8c CLINVAR:486740 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5852616-ab08-4b4f-b028-9c8b3cb3704a CLINVAR:950642 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57e37416-0530-442a-9dc2-80a4a1294c0a CLINVAR:950642 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69609226-2bf3-4935-a322-defbc024d210 CLINVAR:537703 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16b9ef93-5d86-4b53-aca1-14830c055b57 CLINVAR:537703 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e925cc66-a144-4636-bf8e-39b67710bec5 CLINVAR:429040 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83ba13e5-b946-422a-847c-e9bfd0bc2b80 CLINVAR:429040 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cd7aaeb-5f09-4807-857e-55314beeb44a CLINVAR:642643 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a3fd5414-c288-4763-80c8-793302c89efa CLINVAR:642643 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec99c40c-55a3-4ee0-a518-6c1b40bd1608 CLINVAR:9618 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d08d3d3-212e-4bb1-9877-ba416c7a88a9 CLINVAR:9618 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de735494-ba6b-4d39-8de9-1f94f3743b5d CLINVAR:9610 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 447cb62c-0381-4843-8a19-7e5900b2c021 CLINVAR:9610 biolink:is_sequence_variant_of HGNC:7487 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8fdcc42-f917-48fb-8aa0-de7f017ed6a2 CLINVAR:9580 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fbf7a0af-5c93-428c-8244-c69cc9f1e69d CLINVAR:9580 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 065e5fa5-7667-4ab8-af41-192bce91b55d CLINVAR:986496 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 982420c1-c381-4439-b1c5-fbac8287148b CLINVAR:986496 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ed3916a-5541-4414-a7b1-7e52675727f6 CLINVAR:9616 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f43c83e9-420b-426f-8e56-b0fdb6f339a9 CLINVAR:9616 biolink:is_sequence_variant_of HGNC:7495 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 289131d4-1c1e-43b8-9918-e21bd5ee55ca CLINVAR:9617 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf257cb9-5e68-4c63-87f5-1755fe8f4540 CLINVAR:9617 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2614df72-3950-41c4-b9dc-65aae63d9a86 CLINVAR:102628 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 09ac4845-65be-48b9-82a1-e1f4c2eaf59c CLINVAR:102628 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71057909-d53b-489c-94ce-067f3f98c0b9 CLINVAR:1460083 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e17b2ba-af8d-4d68-9fce-8dd4597511c3 CLINVAR:1460083 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ff24c24-374f-4a6f-9aa9-93f3192614d4 CAID:CA16020827 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 99ea7567-fd81-4299-8037-362d77db7820 CAID:CA16020827 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 858ac3fe-2310-4d4b-a5af-35ce4676f568 CLINVAR:986440 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84cfbb1d-e15f-4c09-8c5f-3e7e752ca388 CLINVAR:986440 biolink:is_sequence_variant_of HGNC:7492 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28be612c-00d1-4706-8c14-6bc2d9552b80 CAID:CA386304171 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 70fbf980-a92b-4ca4-ba40-ecfd2ef815fd CAID:CA386304171 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81fe08a8-2ce1-4cc3-9e9e-eb6269b6eaa5 CLINVAR:102746 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bbe65996-274a-4c7e-bc8b-85f0f3c112e2 CLINVAR:102746 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc67fd02-4216-4033-b524-84e7bef49552 CLINVAR:576828 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be7367d7-63b2-401d-a4ed-ec3e30ad8b0f CLINVAR:576828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27607d81-151b-4370-b483-5611617b29ec CLINVAR:2573215 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e40babb7-3294-4993-b6a4-0056297ca7ed CLINVAR:2573215 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bc5ae3c-b59f-4ea6-8672-cd1334edb8d2 CLINVAR:557365 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5dc92756-96b1-41b2-8579-baaa216aeb37 CLINVAR:557365 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7905a7af-e78b-4a51-86bf-b0e5565d2115 CLINVAR:595611 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5635db0a-4316-48eb-a0a8-b221f7c5a65c CLINVAR:595611 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5eb2f24f-911e-4567-8865-4b4d3599515b CLINVAR:102625 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6316247f-4e20-456f-873f-7908919201c0 CLINVAR:102625 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb1b9a4f-cca1-46e6-9dc2-a1d6269cbaaa CLINVAR:9565 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b0310e9b-3c1f-41d0-9b43-e4852f6aaff4 CLINVAR:9565 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2a2def6-9994-4b5c-9238-1d8a4ab7d166 CLINVAR:9581 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e6576419-8fac-4979-b285-2d6533072a4c CLINVAR:9581 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b795e9c3-6cf6-4b6d-af61-3f13931cf4e5 CAID:CA8602771 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 933bed3b-c05b-4898-b394-11c77c5b2b90 CAID:CA8602771 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2b116e0-c879-4c9b-8471-d31da2f0c9ba CLINVAR:2498358 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 795b6de4-7c32-43da-b97a-b7a4864f5ce5 CLINVAR:2498358 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc31f502-0326-402e-b365-766f17d7e4e9 CLINVAR:2498360 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff09ba72-e9de-4041-810d-f12e79e156e2 CLINVAR:2498360 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83b46264-e0cf-41fe-ac8c-288fadf0c699 CLINVAR:2498361 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 48411055-14c7-41c6-9e8b-2612041ec473 CLINVAR:2498361 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ba3a757-a32a-4170-9b25-67d49365846f CAID:CA915940807 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46e33ddd-5b19-475c-8275-56345956153e CAID:CA915940807 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f69195dc-c5b9-4d3f-aac4-c61b90a5bfac CLINVAR:2498363 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39e72ffb-804c-421a-a7af-c48dc90e21af CLINVAR:2498363 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73d50811-8636-4fe4-8732-851ce4c7dc94 CLINVAR:627094 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa35079b-a2c3-479e-9bad-9e7db1169540 CLINVAR:627094 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 780159a7-82f4-4833-9ab8-a5a8806abbb2 CLINVAR:634433 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fdcdfcd4-5215-4805-a2b2-6eeca77275e5 CLINVAR:634433 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32579301-8650-4b29-8b8c-18fe4708e10c CAID:CA16020822 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27d41fd5-9640-4424-bba1-8a126c0eae5f CAID:CA16020822 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24c39d6a-9446-40b2-bcad-497cb971610d CAID:CA409106289 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4895daa4-4667-4964-8399-6d9f1b73ac72 CAID:CA409106289 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfcb8fc1-8726-43e9-a9b3-89325b4ce5fc CAID:CA409105438 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58cfbb73-7f94-4973-a9a8-275a06b4ff08 CAID:CA409105438 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2da7b07b-8659-47c7-bf27-5356f4ef114e CAID:CA409104278 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 162e1ee4-6d79-4c9b-aee8-6b5ca5538a60 CAID:CA409104278 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d88a76a-fa30-4f77-94e2-31a492847805 CLINVAR:660424 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b5ae7bd7-01c0-4884-b773-71c6a9f8f61c CLINVAR:660424 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8c6766a-37f9-44d5-ad43-29629c3aa985 CLINVAR:932842 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d469cd2-e845-4084-9500-0604ab9aaa31 CLINVAR:932842 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c49d2c31-3d6d-482b-bb61-faa358131667 CLINVAR:932852 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 440d08e0-4425-468d-ae0a-79e09354826d CLINVAR:932852 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51081c46-f537-4852-bb99-561f6c891fbe CLINVAR:932834 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b43e21ff-95cc-49df-ad9e-1453055c135d CLINVAR:932834 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d68210c-d579-4cbc-bd00-39d911b87711 CLINVAR:932176 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b21b37dc-605b-458e-9cff-e2c06db2f9e7 CLINVAR:932176 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aadc2cb-34c3-4103-8fb9-3c1c0ad54ec9 CLINVAR:373427 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db3ec766-fc9c-4ad6-9eb1-210d8d35f16a CLINVAR:373427 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57b10b08-9a2d-4244-91da-d0f2c9064203 CAID:CA1139533037 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39f6a34f-0cb4-4f6a-92bf-739053416298 CAID:CA1139533037 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d87f71f-d3bf-4bf3-b266-3f5afc3bc52e CLINVAR:618219 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 625f31a5-482e-4521-8079-aaf3e101b7df CLINVAR:618219 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6c5a9ce-5d8d-4898-83fa-2f07bf999f4e CLINVAR:618216 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7bfc1847-5688-4bdd-8f88-bb34d837d9db CLINVAR:618216 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91e76ac3-1b76-4033-98d0-7dd02b52f2d0 CLINVAR:65513 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen afc847bc-ef85-42e5-b018-e0c61b660c52 CLINVAR:65513 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c867f9b0-cf31-4c93-93a2-95172c4b3cce CLINVAR:9694 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3815ff7-7178-4425-a003-279d1064713b CLINVAR:9694 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9358c31-5c9a-4373-9a08-1642cd8aff40 CLINVAR:544251 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9d92879-6817-42f7-a324-f155ca16a6f0 CLINVAR:544251 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d3dc444-d64f-424d-abdb-710aa6b88dd3 CLINVAR:1402763 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff2f09d1-e79f-46bf-b4ef-4b11fce7632b CLINVAR:1402763 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b26b52bd-7169-430b-b6d8-d3c574361d94 CLINVAR:8305 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c915543f-8373-4abc-bba3-53285761a0ce CLINVAR:8305 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a58a0506-cdc7-4e1d-be01-ef42db92391a CLINVAR:2446454 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bd48d854-ad3b-451d-8560-b26a6988a909 CLINVAR:2446454 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f5f0707-0cca-4fb5-bb74-a2b8ce9720b7 CLINVAR:2446455 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56ab94ac-f6c0-4f76-a766-4a253bda693c CLINVAR:2446455 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a13d1f47-75f6-4a44-8349-c4ef638a5de6 CLINVAR:2446456 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b208f9c-d6cf-4166-aca2-2ce8754cce9f CLINVAR:2446456 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fa139fc-1543-44bc-bd55-4982d7247c1a CLINVAR:2446457 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 707e9b09-fd4c-440d-bec4-f3d09920983a CLINVAR:2446457 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c6caad5-2851-4cfc-b658-4e1167097af9 CLINVAR:2446458 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3830ae29-d1f2-43b7-bfe2-54f76341ead0 CLINVAR:2446458 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09a85968-a18a-496f-b895-85bc81776d2f CLINVAR:2446459 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a57e30c0-154f-42f2-a4c0-393cf1cc7542 CLINVAR:2446459 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbe0e318-2405-46b3-95c4-92ad79579f8c CLINVAR:2446460 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 016d7a07-b608-4d08-9bb0-9bb0cc852f4d CLINVAR:2446460 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de2e83fd-f586-4c21-b075-e19aeed0f4ab CLINVAR:1335317 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7f1c05c3-e298-47ab-abe9-15e30d75189b CLINVAR:1335317 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ef901f4-9f51-4334-b07b-cea2928d1ffe CLINVAR:1409758 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 604ba3da-aa87-469a-9225-7f94505cc2ac CLINVAR:1409758 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90a63ec7-7933-4938-8298-70205baa2976 CLINVAR:1328978 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0272d058-21ed-4d88-a9b7-834e4eafaee0 CLINVAR:1328978 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dfb3d9f-93a5-4fe2-9247-b9dfbe6d15b7 CLINVAR:9583 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb053515-33ca-41cc-b570-e50cd8bc57fa CLINVAR:9583 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14eb7f06-206e-43d4-b68f-41010e646c29 CLINVAR:9622 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2caf57b1-1558-4dbc-82bc-10cfaf9e86a3 CLINVAR:9622 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 004e1ac2-d832-42dc-b3da-d81e48d5c833 CLINVAR:9620 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8bbefb75-1ec6-42f0-bb75-6c374bd222e6 CLINVAR:9620 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39de53f6-6d2a-4af1-9e08-34232f18499b CLINVAR:986477 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c99e65e4-2c91-413b-82fc-3082c9b431a5 CLINVAR:986477 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92fd684d-16b3-4878-bd79-39704c1c87d2 CLINVAR:9592 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4541f80-321b-430f-a345-43b584f8aaf4 CLINVAR:9592 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71d26bb1-b55f-4aa7-9235-384002cf5129 CLINVAR:393097 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e38dbacc-43e1-4f5b-8fa1-7e7f80833e71 CLINVAR:393097 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5abf0703-54b6-49d5-a6bb-72b4646d04ff CLINVAR:440665 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84bbf944-c261-4009-9f05-4de0da1d7520 CLINVAR:440665 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ce4866c-3167-40c1-a2eb-1d09acb7b868 CLINVAR:251094 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3974c98e-e9a0-4984-b2da-2803c8a81efa CLINVAR:251094 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d75e244-1231-4b6d-9669-b4aabe7d39c8 CLINVAR:251095 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e8b3d1e-a94a-43d6-acd1-45bb1afed512 CLINVAR:251095 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4ec594a-f885-426d-a857-b70e1fa56551 CLINVAR:226310 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec33a93a-d30a-49cc-aef3-2fd7d4be093d CLINVAR:226310 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6237ee30-e87e-4ba3-87ea-cc7837d82938 CLINVAR:440592 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bcdfc969-d1b1-426e-8139-123f0488df57 CLINVAR:440592 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4fa9464-71bd-4103-b357-decf0dc72fa1 CLINVAR:189298 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2970225e-0647-4f48-9ada-ee4681f7f67a CLINVAR:189298 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 152f5774-437f-4709-a285-a294ed12649a CLINVAR:251805 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c658168-1c88-4977-a5e9-607ac60367a4 CLINVAR:251805 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04c938d5-f297-4284-9ef5-8748c61e3c17 CLINVAR:183128 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 43f5531c-4ffe-473e-aa27-fcf4a9fb414a CLINVAR:183128 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d95287a-2002-49d8-b7b8-129ebf53f943 CLINVAR:252127 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 943c9682-f4dd-4fc9-b380-5dfff5c11dbe CLINVAR:252127 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 673afd54-02ee-4901-88b6-9fd579e83b68 CLINVAR:252128 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c5f3954-0a48-4ba9-a23b-ccc185c8de2f CLINVAR:252128 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08c8845a-bc46-4839-9e03-332442e3976d CLINVAR:251727 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 91d3982d-4cab-4da7-b63c-43704614a829 CLINVAR:251727 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f543daf1-b0d2-40f1-8bda-55ba1a98b619 CLINVAR:252306 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bbc490b7-42e8-4aff-81ed-bf41bc437457 CLINVAR:252306 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4f45835-90e5-4516-bfac-e3741fe2131f CLINVAR:252340 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77216ad1-20e1-42b2-8c78-a2236bcfadbd CLINVAR:252340 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d727172-c3f2-44c5-9220-0fc76f1ddf46 CLINVAR:252341 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b983ab5b-5228-40af-9a6c-3cc92c6d33d1 CLINVAR:252341 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae643b81-f5bd-4438-84be-448f31cee21b CLINVAR:161265 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3da6acbf-2436-4c7c-93dd-cc7c5cbec534 CLINVAR:161265 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58e7bbf6-f174-45bc-8780-7fc1d9cd121d CLINVAR:440701 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d542bd67-6682-44bb-a24c-32182a3a4336 CLINVAR:440701 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93030d05-301a-4fbb-9823-05b04e94d63d CLINVAR:252141 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0602f71b-ae00-4183-88eb-ad0eea233adf CLINVAR:252141 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1319f77-e683-4e71-a0f7-342e2ecc1606 CLINVAR:430757 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 79175c5c-98bd-43d1-8d97-6e311fcd23d7 CLINVAR:430757 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dcddd41-8377-4f78-b7a2-57b87ea4ac4f CLINVAR:250942 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73b50310-3817-4ac4-a82a-8f7f15cc6d27 CLINVAR:250942 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3b41b87-d5ac-460d-9487-649b32800195 CLINVAR:440600 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5352bc6c-12e9-40ec-9b5c-37dd604e10a0 CLINVAR:440600 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b3a193a-5bd2-442b-b3f8-660fcf70a4ba CLINVAR:431538 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79ea96c3-c0e3-41da-ad97-8b43d787a40d CLINVAR:431538 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28e45878-7637-4ba3-80f2-f62275e64cc0 CLINVAR:440670 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e43cef0-f2dd-431d-a3a4-3704f1e538d7 CLINVAR:440670 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0c8d0ac-21f3-4d71-a966-4013ab9435e7 CLINVAR:251489 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51eeff60-e9bb-434d-b7cf-c45f2e1ffd15 CLINVAR:251489 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 906391d2-35ed-4137-85f4-e843af3e7bcc CLINVAR:375809 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4710a046-d7d6-45c1-b309-e2e71a1b1cc7 CLINVAR:375809 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4e6eca1-7719-477a-b180-1da85b71f1e2 CLINVAR:251606 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1492af3-9197-460a-b64c-b4c6f7f46bd6 CLINVAR:251606 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fef5e0c7-aff7-44d8-8693-aa9c782d3ca4 CAID:CA386493486 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b6c2b697-e6b6-4c3a-987a-b8b3fe57fa4e CAID:CA386493486 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aefca20-97c9-4132-bab4-d5f910ec711d CLINVAR:102810 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31f56497-20aa-477b-bfff-aab8c0cc8850 CLINVAR:102810 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9282abdc-51e0-485b-86c3-9d9f2e15570b CLINVAR:9563 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 73edef12-e924-496b-9e97-068e2ab57309 CLINVAR:9563 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2639408b-dc3c-446d-87d3-2cd66c8b5f09 CLINVAR:9688 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa0e8ed9-a98c-47cc-a01a-0416cda5d5b6 CLINVAR:9688 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f571b491-1aa2-4be2-a69b-61b2e9523f4f CLINVAR:9570 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60f7a7b3-54c4-4ada-a243-d50e105c480f CLINVAR:9570 biolink:is_sequence_variant_of HGNC:7494 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca135264-426d-45f5-9e47-fd5c63c50b36 CLINVAR:9560 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c9a79e7-6203-4a6d-8d9f-d365cb9c3a4d CLINVAR:9560 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b4a914d-c030-49c3-8456-333094cd7e69 CLINVAR:2498105 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14315881-8852-4386-bf2f-5da79a8c449b CLINVAR:2498105 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fe29de1-9dbf-44b7-88c9-faba2b6ace10 CLINVAR:2498110 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49e9f3ba-4201-4353-bc0d-7a006c5e5445 CLINVAR:2498110 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8932eca-7781-47f2-b9af-f14065371f1c CLINVAR:2498112 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5cb72b50-24d7-4329-bf4f-59d260035188 CLINVAR:2498112 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90506b37-f6df-473b-aafe-2611b9ce066f CLINVAR:2498113 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0abf2d86-f2f6-4376-9ff5-95e824642302 CLINVAR:2498113 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 912af552-451d-475c-a673-e36214bef1de CLINVAR:2498114 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b42e981-22bf-4e51-9d2b-9103fe886f7e CLINVAR:2498114 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4e1774b-6121-4571-985a-9b6d7234cf8c CLINVAR:1698837 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d0461b1-b697-4f47-96e7-6229351d378c CLINVAR:1698837 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef66576e-40dd-4f75-b6ea-2156d9085c96 CLINVAR:2498115 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed794f15-4228-463c-8bcf-4b7f41395865 CLINVAR:2498115 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4859d7bb-65c5-4996-ac10-ebc53226b46f CLINVAR:2498116 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2120f2a0-ac06-4748-b83d-511da9f31a07 CLINVAR:2498116 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1c5557b-5776-4f35-b48c-4180667e9570 CLINVAR:2498106 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e1eeb56-4c72-42ac-9915-91fea06e399a CLINVAR:2498106 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c54258cf-59f9-4987-967a-ef8df0307fd7 CLINVAR:2498107 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ce5a912-dccc-4b20-a917-5b6807c2f4f2 CLINVAR:2498107 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0fcf0a7-a899-4ea8-8614-a183d53c3211 CLINVAR:2498108 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42e6f6b0-dd52-4a39-93f7-8f5c45e4e169 CLINVAR:2498108 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5822885a-b3d5-4b79-860b-2757600b6a3e CLINVAR:2498109 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5833d76c-a6fe-4713-b619-95c16fe19486 CLINVAR:2498109 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c0325f4-fd17-459e-a23f-29dda0cdc14b CLINVAR:293712 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 633834cd-38fc-4e21-b560-4580d085d6a8 CLINVAR:293712 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d60be3d0-203c-4936-a835-cada5129f9cd CLINVAR:133063 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c19c0132-0003-485d-846f-2f37c2002744 CLINVAR:133063 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 290dd8a9-30b2-4174-a304-455a16a65fa8 CLINVAR:133059 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 617313f1-acb9-4559-aacb-add8cdab3e94 CLINVAR:133059 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee79e4c0-310c-4f75-8416-20f5b9b8471f CLINVAR:133069 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 406b58f1-5ac4-4ac4-82b6-989a310573fa CLINVAR:133069 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0283eb4-1fc5-4f02-8b9a-1ee471d75800 CLINVAR:1213826 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63616379-2dc1-4e23-8f29-72ddae3bf54b CLINVAR:1213826 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83e01fc5-89ed-4590-904c-7dccea8b8aa4 CLINVAR:1018682 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 421bcfb8-2f11-417d-bdb4-b4a3d9502240 CLINVAR:1018682 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b17acee5-4d26-4c99-ac99-7286dc0c26f4 CLINVAR:141972 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cae31038-fe09-451e-9d05-f0e7e19d5bc5 CLINVAR:141972 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceb5bb95-4a09-41e7-bf9b-2e83fcf0f4a0 CLINVAR:830187 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 472aa121-783f-4aab-8daf-b70667e8a813 CLINVAR:830187 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c71d8a1-a832-490b-8e5d-020b07a1016d CLINVAR:232594 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3588e4a5-ad0f-40d5-9f4c-0a804c1a5807 CLINVAR:232594 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80b5712d-d8ae-447e-a119-a737c88744da CLINVAR:492220 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53e96e41-bccf-4ed5-b451-4e53eb6beee5 CLINVAR:492220 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e29bda01-03dd-4a74-b9c7-6a3be474b5b8 CLINVAR:944799 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6174bffe-62b8-498d-9e4c-752734deb5f0 CLINVAR:944799 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e820e80-7b09-49d9-b093-e60e8b1ed2d1 CLINVAR:580962 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf0a429d-f92c-4331-b069-5ae7e8b8290d CLINVAR:580962 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4f51e5f-af77-43de-97c9-4ebc61a0e2d8 CLINVAR:241572 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40198ffa-93e3-4ace-916a-8ee6137230f0 CLINVAR:241572 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35b11ecc-3c17-4752-a40f-9106534a495c CLINVAR:657328 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec0c7415-79b4-49a4-ad9f-6add89ee4dec CLINVAR:657328 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b90b5f4c-3929-4f97-892f-a2953464c43e CLINVAR:818335 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e8b883f-8a15-458d-ac57-81b1a7e1718b CLINVAR:818335 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba98c1a9-eddd-4751-8903-0af912bdea96 CLINVAR:185108 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9210bee-e4b8-4cb6-afa3-959b19379619 CLINVAR:185108 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52f6d7b7-4b61-4867-89ce-983c2adc7db0 CLINVAR:126609 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c01a9c8c-8563-443c-9a12-8b84c51f8217 CLINVAR:126609 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cb8fbfc-af94-4de8-812e-7efbda3e81ea CLINVAR:482029 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1f85d9b-fef2-4af6-9b5e-f3c1ea9ae09e CLINVAR:482029 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7be51e24-dc04-4143-820b-0fd806f6e92d CLINVAR:143966 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 16ba3b41-ab9c-45cf-b283-eb0c3a93f8d9 CLINVAR:143966 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aad962c8-908c-446d-9021-7b0ea0ad9650 CLINVAR:186990 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b119d068-cbf1-489d-a5a2-670adea52a74 CLINVAR:186990 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a2e2d1e-bb2e-4053-9d26-50c020a5abf6 CLINVAR:126660 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c9c86096-222a-4b1f-ac88-b3f1839390da CLINVAR:126660 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7b48c86-e065-4190-97d1-45cd4cba4434 CLINVAR:2498117 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f257f9b-6df9-41e1-8a26-5c97db800dae CLINVAR:2498117 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f686e011-7e34-4f58-a2f9-51c326a6897b CLINVAR:1453402 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98d96426-89d2-4abb-954b-722896e5e518 CLINVAR:1453402 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba83dc64-0376-41ef-93c0-cbae2ef32918 CLINVAR:187262 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 301d0f3e-c1c2-4fa3-87c4-e6103567a689 CLINVAR:187262 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d77f7a07-81f1-4587-824a-1732623be396 CLINVAR:232977 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef372d62-7e3a-4a8f-89ae-c259f7df264b CLINVAR:232977 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70e8b36a-8752-42e6-b692-e931e2903b9d CLINVAR:126711 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e1bed5a-86cc-4471-9481-bc906f17cf76 CLINVAR:126711 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1b8c694-5a74-4786-b51c-718f60df25fc CLINVAR:126737 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 50387350-d19c-4f3f-bd91-5648c4a43119 CLINVAR:126737 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a9c72f4-8770-4946-8d26-1e49c0adfd37 CLINVAR:126739 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 20a5af01-3606-4ce1-b2ba-1a90e0641701 CLINVAR:126739 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b9ed95d-4a83-471e-8ce3-a6259ce355ca CLINVAR:2498118 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4fbb19d-fa65-44c0-a44c-6467c461d2e9 CLINVAR:2498118 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0dad641-067e-496d-be5e-80849c0d8a7f CLINVAR:128144 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 299e4559-bd83-4355-a08f-23027fbc827b CLINVAR:128144 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41a2e696-817e-4f45-b689-0f127bed6bde CLINVAR:186820 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c83752d-e13e-493a-a310-7c7d82626e92 CLINVAR:186820 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4073d1cf-282a-4d19-baf6-0afb16f78755 CLINVAR:461007 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b5d4ea7-040c-43cb-bedc-437f07f964db CLINVAR:461007 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8da5444e-a18c-4008-a771-2a83fcfd7e99 CLINVAR:484222 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1866bed3-ffc0-4594-869c-7f8ec81c8ac2 CLINVAR:484222 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e612f874-bb9d-4f7d-8f7a-b6d8c94a1fea CLINVAR:241571 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d485a72-c944-4179-97a9-e7d9f8be1e6a CLINVAR:241571 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa2ded94-e800-41e8-b15f-859c647551d4 CLINVAR:410148 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb699a8d-9615-4fdc-b9ab-23d74978c08e CLINVAR:410148 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6b21f87-6873-4d66-ad80-b24b839fb443 CLINVAR:480243 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 666ac996-4a75-4525-afdd-4be6763cc771 CLINVAR:480243 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 165dc366-c32f-45e8-8621-f5c2c4a86848 CAID:CA399789759 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e478d9b2-d7e2-44de-bc41-71b522cd7d10 CAID:CA399789759 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62261c74-bb3e-4fec-be67-2b5672af2516 CLINVAR:2498366 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 152185ec-c070-4386-836e-3552ad5aa6c0 CLINVAR:2498366 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec12d593-78af-4cda-a757-6fe5aa41d951 CLINVAR:2498367 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3dfc25b1-54ed-4513-b2c1-22be9c1f390a CLINVAR:2498367 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49140118-6e3d-4c58-bfc6-6e2153c0ed60 CLINVAR:374016 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed102c72-85a7-4490-b003-742f285ddd5c CLINVAR:374016 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ba87f01-7873-4bc1-b3f5-809e603bec5c CLINVAR:374015 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5e43a34-fa48-496a-acd4-3827d4f21ea8 CLINVAR:374015 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1401a738-21cf-4ac4-8020-54b887a0c2d1 CLINVAR:2498368 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5a281ea-75b2-46ae-b67a-2f18e5982627 CLINVAR:2498368 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66754d8c-95fa-4d47-97f1-7cd09aaca2c3 CLINVAR:2498369 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6dc9c622-4ef0-44c7-9b7b-bf3687974ad1 CLINVAR:2498369 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e200e682-3017-4e43-b549-5a11ded8fbac CLINVAR:2498370 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53e73dd8-3d3a-4bc6-a99f-c6bba0f4d4c9 CLINVAR:2498370 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8b207b4-b1fd-406c-a359-af08402460eb CLINVAR:2498371 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d578e02-9e39-49ca-866d-af6e9868c694 CLINVAR:2498371 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3b4acb0-ae58-4bee-b612-569ffdebc677 CLINVAR:2498372 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2e728cf-7f24-46fb-adbd-68734d653dd1 CLINVAR:2498372 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65ab3c46-6022-4f07-9faa-c1859109e05e CLINVAR:133058 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8973cea-95a3-4682-9d81-fe331352a944 CLINVAR:133058 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0700e04-6dec-41f5-b703-ff3d1ebc6581 CLINVAR:474888 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a7eae0f-fcaa-45b8-94e8-66ab70e5b1d7 CLINVAR:474888 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21e1fd79-b50a-4edb-8621-7d7ce7fb6433 CAID:CA891834518 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab58679f-0d90-4860-8f36-5591a6bf3adf CAID:CA891834518 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d2d8a76-a7cb-4b9b-8f0c-9a8bc3e5f5d2 CLINVAR:932828 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 64a2f50f-43a7-4d70-b7bd-bbe0e480ccce CLINVAR:932828 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cf29054-b06c-4db9-bdd7-0b55f3497724 CLINVAR:252000 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64f7175d-2314-4261-8170-b5dafa5b65a2 CLINVAR:252000 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4aef4d8-160a-4e5f-9343-8005f69a7d1d CLINVAR:406163 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a4972ba-c933-42d0-a611-c39123970d56 CLINVAR:406163 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a39dd554-1eda-4d36-990f-f01dca2bce9b CLINVAR:226343 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 11c6d61b-e06e-44e4-8ad3-d48b1c83e966 CLINVAR:226343 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3f1efe9-f049-4608-b12d-e4933c4661ae CLINVAR:689349 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e790040-7f7b-43df-87d1-f5028ede837d CLINVAR:689349 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dc1a74b-a51b-4389-b513-64b82ec72f52 CLINVAR:440698 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 915e3d61-03bf-46fb-bcbf-63c68d425c91 CLINVAR:440698 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65e0ddaa-be12-4599-8050-5c1cad3cc938 CLINVAR:440697 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 062ac5cd-8288-4314-b3f0-7b885c0c5ee7 CLINVAR:440697 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f30f0b1-5ea4-443f-9f74-82cd63384d6f CLINVAR:252321 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f54df40-a12d-4346-be8c-7b11afd36a45 CLINVAR:252321 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f4f4e57-c7f1-47a2-902c-d2162973b6a9 CLINVAR:251850 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5658038a-94c5-4ce7-a302-a6b717d49a98 CLINVAR:251850 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba0643b4-4a1f-4924-a8cc-f003e0409f9b CLINVAR:440645 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen edca2ad7-f618-4e9d-9b4d-1762a85436bc CLINVAR:440645 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 786882e3-9165-4771-9248-1efb144751d4 CLINVAR:251847 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b0c1c23-7276-4f1e-9d4b-392570db3012 CLINVAR:251847 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c07dddbd-1244-45fe-9da7-a9350665db8c CLINVAR:440646 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6f28ccf-0da9-4e65-8622-264854d2c03b CLINVAR:440646 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4b8d57b-df01-4baa-9a07-d81aa2c424ee CLINVAR:430740 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4eae67e4-872d-421b-af72-2b7936236afd CLINVAR:430740 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6da28341-e6a6-40e2-aba6-b486214034b1 CLINVAR:251649 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0edfefac-876e-4932-8a10-67ef5e641170 CLINVAR:251649 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e9fdf49-b7d1-4da1-b10d-92e8ad00f820 CLINVAR:431519 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6c3f3f0-a4b2-41b1-89eb-fa9d9a341dc3 CLINVAR:431519 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42ae62e5-c944-4bd7-9444-9eb6ae392f3e CLINVAR:251651 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 250314c2-d942-4dfe-8747-e082764afbf0 CLINVAR:251651 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbe04d47-046b-4c4a-8bb4-2a6eead2d218 CLINVAR:431508 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b97d49c-d079-49e7-b454-289a8d0c209f CLINVAR:431508 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cb9c7cb-ccc3-4dff-b2ed-456145b6b6da CLINVAR:251127 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12cf3d45-48df-4a2a-9b25-8f3a0234f89a CLINVAR:251127 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f746dce8-c68f-4ab7-8df2-d2c7babce75b CLINVAR:251537 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 915520c8-05b5-43f4-8b7e-1d829bae0438 CLINVAR:251537 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 466dc165-51d6-4ca6-a13a-5ead6708e125 CLINVAR:161280 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e7070fc-afa3-4775-88fc-b273b33000d5 CLINVAR:161280 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73b7f2a3-2c78-4f6f-be3a-21d1ff4ef5c8 CLINVAR:251519 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dddcc12f-0369-42d1-8ada-1d10d780eb6b CLINVAR:251519 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e656a4d-4fdf-4ec4-9278-70c6b045540c CLINVAR:1437514 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 451a2b2c-e331-46cd-adf6-57db80ca2ccd CLINVAR:1437514 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a502c14-b2b9-44df-808c-faa63e79c2d7 CLINVAR:251521 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 745bfd56-245d-45dc-9793-ed1af07a3495 CLINVAR:251521 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cd7fe40-6632-4356-9fdc-260827dce790 CLINVAR:251081 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen beb4e388-99e5-4a40-850f-78f7600b8d90 CLINVAR:251081 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ceb183b-0dc1-4897-82f8-2b80223de3ed CLINVAR:1331775 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c288b06-1672-400d-8793-9bdcd2505091 CLINVAR:1331775 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0646e974-ade3-47c7-a3ef-610f7dd6ed36 CLINVAR:251362 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b84a541-36cc-4411-88ed-6827ccb2d0a0 CLINVAR:251362 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3349eaf6-cf8a-44a0-8c3b-dae603c9b5d6 CLINVAR:440599 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16f2294b-05f3-4099-beec-4ce4e0e947f8 CLINVAR:440599 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d8229b0-897d-4606-a4d8-51edd290f601 CLINVAR:417370 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8f9a996d-f7b9-4f3f-b985-2736703d0d43 CLINVAR:417370 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2e84256-3ea9-4cfc-bee0-49dc50a62fe2 CLINVAR:369855 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff12df12-2f89-4166-9097-85a4b11ba674 CLINVAR:369855 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eec0325-be31-4c90-8b1d-fc511db6816c CLINVAR:431513 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ac6323d-ff85-4007-b46f-f81e31bf3c8d CLINVAR:431513 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eef183ba-500a-42ed-91ba-50ece69cc36b CLINVAR:251223 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed43605e-97f9-44c9-bce1-bd987d5b1cc4 CLINVAR:251223 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9b7a353-28b9-4c24-a05c-4599cb35f65b CLINVAR:183098 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 828bf24c-3e65-4596-a3ef-f6b7138facfa CLINVAR:183098 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d30f34a3-779c-4d1c-9097-b665e25b0c98 CLINVAR:977996 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb98067d-ff0f-4a90-9b23-e7bb26c2bd9f CLINVAR:977996 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f152c31f-93b9-44f3-8356-1d9c4fd095dc CLINVAR:977997 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4741405-c23b-40a3-af3f-e08e267f3ed7 CLINVAR:977997 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a110b33-b338-49f9-af77-3624b9af5916 CLINVAR:1466547 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5dc943bb-bf11-4b21-b913-ae81e55fb38f CLINVAR:1466547 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32ce0dd0-1a61-47d2-8cb7-f4894952359c CLINVAR:431547 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 31200c1a-50e0-48c7-9fd2-f09fdf1697ea CLINVAR:431547 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af29d542-9d13-4d3f-a617-d1e584428703 CLINVAR:251691 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39cd48a8-95bc-4375-b38e-ecb4b2f656cc CLINVAR:251691 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d0aef84-cc3f-40ec-8a40-260eab97b33f CLINVAR:440626 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9180ecd-4e64-45eb-a9a6-f806227d719a CLINVAR:440626 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f6d10a0-bef4-4cef-a175-7239204f00a0 CLINVAR:251692 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6eea57b0-657a-4291-9360-533f67232892 CLINVAR:251692 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 842c5b48-bceb-4205-a4b6-fd6d9a3f04a4 CLINVAR:252120 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 82e5a8e2-0898-492d-96ba-5634b565408b CLINVAR:252120 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d3a82a2-5522-4603-bb7c-1db96229d982 CLINVAR:183106 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b2405623-81b6-4129-a17c-abb57815aabe CLINVAR:183106 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 972f982a-ec08-413a-9c82-b63176d6497a CLINVAR:440618 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f3f7dc76-7e35-407c-b075-e92d3feb7be2 CLINVAR:440618 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27265ec2-c745-468f-a15a-c34065c63fd6 CLINVAR:251605 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85103259-8684-43b1-b3ab-e6183461839a CLINVAR:251605 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63c6f2fe-b794-4b9c-920c-897c4d44be8c CLINVAR:251406 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3548191a-e8ac-4f35-8450-d3f3452d2963 CLINVAR:251406 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3f2f134-8520-488e-be15-419fc5e5ca98 CLINVAR:440623 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b7ae63c7-1408-4218-923a-e91f621642a2 CLINVAR:440623 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ad470c0-333b-4079-beac-722d84a6d076 CLINVAR:251645 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cf16b454-9398-448f-887e-0deb8b6cf1ff CLINVAR:251645 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98917383-6390-4b9b-a556-ca7051b86505 CLINVAR:183114 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47ef875a-d0fc-4d71-9a14-8b9597a3b64c CLINVAR:183114 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b4a63f4-d378-4a88-8d17-ef23bc6e2cb2 CLINVAR:226332 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a355d3a4-85c2-4bec-b44b-1c5e74d15d46 CLINVAR:226332 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5784da3-01c0-47a9-bcc4-6fdb55735ef3 CLINVAR:251735 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44332dd7-efa8-4be2-b198-1972418c36fd CLINVAR:251735 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 296f38ca-3aea-4e95-80ba-0aa83a6f2f42 CLINVAR:431523 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8009406-4fc6-4662-8f77-4bd5fe3d1d07 CLINVAR:431523 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d34c739-c323-4f67-96c5-c1faab69c3f7 CLINVAR:369861 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10f083a6-b243-4c4f-a3ee-101cabe7ad23 CLINVAR:369861 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09de0156-c6fa-4f25-b083-e69d3396a4dc CLINVAR:252033 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5811287f-6932-487d-ad6a-5d147b9fcb6f CLINVAR:252033 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2c6a1dc-1df8-4d58-a664-a984d6c226e3 CLINVAR:252032 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b362ef8e-6d90-42f9-a985-8cdb9c1cc25d CLINVAR:252032 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d9ca506-49ff-4a17-ae4e-c489e7407235 CLINVAR:226402 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1651a2f-7ab7-43be-ae01-e325569bc7c6 CLINVAR:226402 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca5e8fb5-ca8e-48f9-b93f-bf50a2326538 CLINVAR:251425 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cdaf4936-915d-48d8-abba-a2a630ba7bff CLINVAR:251425 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c0a6906-2d12-4d52-b5b1-e7ae78374da8 CLINVAR:251121 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0368a09a-35ae-4e77-85c9-69f02be1d129 CLINVAR:251121 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5901376-3789-43e3-bded-9458887b1777 CLINVAR:251122 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b14a8884-d944-4b90-bd7b-2023814e8f97 CLINVAR:251122 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da970355-fe90-4981-b8e5-2400c24b3d6a CLINVAR:440556 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf158bbe-1d36-46d3-83e4-b2470c91d0cd CLINVAR:440556 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48efec90-315c-476d-acc8-ed775a3dae91 CLINVAR:251583 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10d395a3-fe32-4112-b0e3-46281b50254b CLINVAR:251583 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2745a60f-cb60-4bde-9999-7e5d0cec6571 CLINVAR:918325 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e00ef08d-7a7c-4cc5-8681-a1757e58b334 CLINVAR:918325 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d7f50d0-4703-4c9a-9d28-a19cfe2dabe5 CLINVAR:403665 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7b62051-8bab-4b29-a5a1-87d00ce58657 CLINVAR:403665 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8838f5bf-4725-469d-96a3-98988f41b34c CLINVAR:36452 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6dccbbb7-4fc9-4357-8888-9550348a9d6e CLINVAR:36452 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43f5bdb1-062a-4542-91f3-2af4c5e762a3 CLINVAR:183083 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 981a3f47-ef38-424f-803a-2a653543c766 CLINVAR:183083 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fead280-8ac8-4c44-9a77-eb799a3257fe CLINVAR:251088 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e324e5d2-50b9-4628-9b39-ef1935d7b655 CLINVAR:251088 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 712e3e5f-7d0e-416d-b957-64936ec21e4c CLINVAR:924271 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d5d045b-3ace-478f-99cb-33ed756e8e0e CLINVAR:924271 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b4e37cc-e7a8-48a1-a98f-2d09a2edbce3 CLINVAR:251828 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cae8b345-a1f7-4bb4-b73b-201518262e07 CLINVAR:251828 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 209ce5c1-929b-4dc0-9db3-d9d9abba43a0 CLINVAR:251894 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41b9f7b8-ebbb-4173-9d70-0d308a703428 CLINVAR:251894 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f471a35b-1ecc-44be-a3ed-2a6cb1a847a5 CLINVAR:183105 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 54513b10-623e-4309-a6bf-21a9eef6d721 CLINVAR:183105 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 980be343-0f63-421f-8df8-58ad0ef896c7 CLINVAR:926520 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49363331-f3e3-4279-a5dc-7f2e016f1ff8 CLINVAR:926520 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cd62210-0abf-451b-9331-2779c95de13d CLINVAR:225181 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94afec94-3f78-4d77-95f7-2f18578bd24f CLINVAR:225181 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4df5060a-cf92-4746-b8d2-8fbddf6e5bfb CLINVAR:251587 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d6fb46a-c3b3-44c0-bb0a-879de61c634e CLINVAR:251587 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c41618b-3a78-4415-8f4c-b6a3feb11a83 CLINVAR:226299 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2966444b-c215-4b9b-a876-80449d3c836d CLINVAR:226299 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00c3cae1-d146-4b72-b89f-35b1c2c73e42 CLINVAR:1395739 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 356c29f9-61e7-4282-a27c-8d14c60c978e CLINVAR:1395739 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8240bba-833f-47b9-9152-5e55c5b42ccc CLINVAR:2500836 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ac2f568-0a38-4262-8de5-7a51fbf4dc26 CLINVAR:2500836 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b23563ab-3759-41ad-a2f2-8543acd07d74 CLINVAR:2500835 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b7400b85-758b-4485-b7e6-63dca13d1f8c CLINVAR:2500835 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21fa042c-2e40-448f-9386-16c1067efcc9 CLINVAR:2500837 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1dce45bd-0d89-45d2-bedf-e135b1df104d CLINVAR:2500837 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae3b8752-b54b-4bf8-afe8-4cdcd0039d73 CLINVAR:806282 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3be2b109-01fb-402a-bb89-d9b6dd57b08a CLINVAR:806282 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad5fff78-0c1c-4185-941f-27758c98af3f CLINVAR:2500839 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8b1fd75d-e314-48fa-8fa7-7a9a1d74d149 CLINVAR:2500839 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2820fd92-cf8e-47bb-b24c-8501f9cc6223 CLINVAR:2500840 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7824837d-b058-4e9b-b315-d781cee184f5 CLINVAR:2500840 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91e151db-9f72-47e0-8337-1d1333466e89 CLINVAR:2500841 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 789ba718-8dc8-48d4-a782-755cadffa80d CLINVAR:2500841 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c8ed523-e8d8-4a97-b7f0-eec544205894 CLINVAR:875032 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a457f58-7778-44c9-90fc-0cbd801dc8f0 CLINVAR:875032 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9d909ed-bb52-44b0-bf3a-616f85af732f CLINVAR:1173106 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c77f3746-8ed7-428d-ad2c-70f23ed2b452 CLINVAR:1173106 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ca46a0f-675d-4320-8eac-85b7d269ad34 CLINVAR:2500832 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 414d15b5-91d4-48b7-8c1e-94c4d716def8 CLINVAR:2500832 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20535de7-c1db-4575-98b5-744f392c8af4 CLINVAR:2500833 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 310f5bc0-4000-4a13-9a3b-ac45d3d4aaa2 CLINVAR:2500833 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64d82e9b-6957-45b1-b9eb-b06a5f609201 CLINVAR:1048923 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e9d1117-b62c-4041-b569-ed7d052160db CLINVAR:1048923 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 538d6a37-21ee-4283-a361-26c8461b86b9 CLINVAR:1302992 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cce89bdc-b2fd-4fd6-b3b0-dcef7e015e3b CLINVAR:1302992 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54c408d8-386a-4982-988e-a64cdafe959f CLINVAR:877000 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 526e15b0-5ba4-4c02-89eb-7abaa84b42d7 CLINVAR:877000 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d072b9b8-af5c-4683-8790-8de6e491138c CLINVAR:2500834 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 125ad226-24eb-4efb-b946-1109f54bbfef CLINVAR:2500834 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a8083ab-39e7-4d8d-8f22-53b76da66f2e CLINVAR:431972 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac64f5c3-9fa6-47bb-963c-94c89a6124f0 CLINVAR:431972 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4040d39-f836-4dbe-80e6-a61a74ab2a4c CLINVAR:242139 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fdfd739f-dd9a-45b2-ab5e-06aaa5bbde34 CLINVAR:242139 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2c51922-d799-49bc-9670-78d7abe080ba CLINVAR:479634 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e808ec1-0fa6-46ae-9c69-9e1fe74a62ba CLINVAR:479634 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b525a783-ac98-41be-b642-87f2beb5a5d7 CLINVAR:825798 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08604cad-d1b2-4fde-8adc-55cb5eb73ed2 CLINVAR:825798 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80cc2c81-e84b-4e8c-951d-715a349b11bb CLINVAR:825790 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f02d779b-5ddb-41bd-93c9-7dc17b9f01f7 CLINVAR:825790 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24843b1b-1873-4c10-a4cd-8add2f3bb67f CLINVAR:825823 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10bfd2f0-bb0b-4087-8322-e7e73cce1d7f CLINVAR:825823 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b2ef48b-3d41-44c9-aefa-ffb75a62b6e7 CLINVAR:479625 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 040ae321-4282-4573-b6bd-24bdce85937f CLINVAR:479625 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 892c4cc4-6fc6-408a-bc0d-104abdc79049 CLINVAR:2506404 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e5e66511-7c4e-4a2d-a474-7a9641b31e99 CLINVAR:2506404 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb6411a5-1c48-42b8-bebf-8036d892f54d CLINVAR:2506405 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3fd6b844-6c4f-4d66-a42d-dfabeee18ff0 CLINVAR:2506405 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d273f0c-8767-4263-a563-240e35eca1fd CAID:CA399795582 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6877483-14c5-4752-8aab-10a8c4c4d0ee CAID:CA399795582 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e5955de-777b-48c2-b9b2-e21290cacd08 CLINVAR:2506407 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e0da7218-0d40-451d-b83c-7539877a2882 CLINVAR:2506407 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56372f45-f8c3-49ac-a972-3d57a0d79974 CAID:CA915940265 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 126349aa-2242-4bf6-8d1d-94b9b940df09 CAID:CA915940265 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3f55441-c661-482d-94ab-3d8f6f397ecc CLINVAR:2506409 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46fda426-e0b4-4d22-be5b-364d1afe0baa CLINVAR:2506409 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e33d79e-9663-4ed8-9dea-23334435b303 CLINVAR:2506410 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b17d049-2cf8-45bc-bebb-cfb28191efae CLINVAR:2506410 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5d49b42-f63a-4a62-b216-3e8c8531e140 CLINVAR:2506411 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e9f315c-d9df-4985-bc83-8ae5e0e19936 CLINVAR:2506411 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a249a066-6eec-4edc-9dcd-0a1525027b04 CLINVAR:2506412 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 536a55ca-b418-47be-b0d6-2741fb7f2a9d CLINVAR:2506412 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3ca73ab-3825-48a4-aba1-5fe1f528f06a CLINVAR:9590 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f9e511f-664a-425f-a508-701b77f71e5c CLINVAR:9590 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3e72a2b-200c-4f0e-9025-ae46d0263c68 CLINVAR:30004 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a24f47fb-6ace-47ab-a8b1-dd86f7462e91 CLINVAR:30004 biolink:is_sequence_variant_of HGNC:7487 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3dce78f-5b57-49f3-92a8-132b1fa904b6 CLINVAR:9569 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39a78071-9922-4c6a-be77-f5918bd000d0 CLINVAR:9569 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1813b88e-e926-47c6-8ee6-23833db8f785 CLINVAR:693062 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7371e1d-ae53-4e26-87b7-e7ad88273a26 CLINVAR:693062 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b02a8b8-d1b1-403f-bd0e-9e59c92bb584 CLINVAR:9722 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0efd16f9-9c1b-48ba-9139-e7b41d8c2f60 CLINVAR:9722 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4f0d2ac-7388-4dbd-86e4-e3c36d967363 CLINVAR:133144 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e0777a6-17f3-4ecb-92e7-0faae4f8ae20 CLINVAR:133144 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0238248e-dbfa-4bc1-a4de-0cd9d00efabe CLINVAR:932844 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 58f44c56-5ba6-40bd-97f1-14c5cb999083 CLINVAR:932844 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8424015f-4ee0-45a1-96da-6b7c187d797a CLINVAR:810628 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42c6f5ac-0f0e-4812-a903-fe8caaf1b6ec CLINVAR:810628 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e52a01c4-89ee-49fa-b45b-160d8f611c28 CLINVAR:1312506 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8359951a-d587-48db-8b04-c4048e7c68bf CLINVAR:1312506 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 354b47bf-1bdb-4db6-adff-4c6348d74803 CLINVAR:8304 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e496d524-05e1-4249-b822-ad9cddda72ee CLINVAR:8304 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00c28c69-9d58-44ae-80b7-d0edd78e85cd CLINVAR:1067935 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d54961a4-dcf9-4437-815c-b2b9c1d02924 CLINVAR:1067935 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e142b865-16da-4b9f-9d07-5dfd58588b64 CLINVAR:2570636 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d9281243-835d-4035-916e-099fcfafaf5b CLINVAR:2570636 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee451dab-5de4-4ab7-b1a5-63678060263f CLINVAR:939221 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 884abbf2-6456-46bf-9ccd-7301a50893f8 CLINVAR:939221 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15649d9b-c4ac-48ab-bbc4-5275e64fa468 CAID:CA504731701 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f293d150-7161-462d-9481-d3961d1cb2a2 CAID:CA504731701 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4882cafd-a171-4bcd-bf40-3728d82488d8 CLINVAR:2570638 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b688a8d-812a-4ef1-b899-f676bc5d6f2f CLINVAR:2570638 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9ecfdc7-1c5f-46f9-83b3-ac757387057c CLINVAR:2570639 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d76959c-0606-432c-ada1-534b595af591 CLINVAR:2570639 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 315df4b9-b62b-43a1-a328-2c4d087c2b66 CLINVAR:2570640 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 04149d6e-507d-4848-b946-2caa67b5d09b CLINVAR:2570640 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba6e9e3c-100e-4f3d-a25e-5c8d8ae45495 CLINVAR:8303 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen acaa6e28-7e2c-4c67-b148-7b63cdc3c534 CLINVAR:8303 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8f688ff-08c5-4c0f-9329-49541e61eaf4 CLINVAR:947458 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7404e5a6-8898-494e-92ba-0b48c89685c1 CLINVAR:947458 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97841550-4dfd-4ed4-ae10-2f1bd02259ef CLINVAR:449690 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15ffcfe1-5e7b-431f-8bc3-d041299b7cc8 CLINVAR:449690 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 859bbc46-5f83-440d-bbc2-ba4659c72d21 CLINVAR:1361089 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11c33abe-0d22-45a6-840c-17d9668ebc82 CLINVAR:1361089 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ab98a73-cb51-46b6-bd4b-c87acea361a2 CLINVAR:2136533 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3b6e01a-f23c-45c1-9fe9-bc20998d61a9 CLINVAR:2136533 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81a2c090-14b0-474d-acc4-848c8ef73930 CAID:CA2018007653 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 101bfe38-bcd6-49c9-85f8-33cd4d6a2343 CAID:CA2018007653 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dd77a68-d651-40f6-8460-21d27fa2b87f CAID:CA367401305 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c2efe8d-ccd3-47d9-b38a-6daec77fc03d CAID:CA367401305 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bb9aa12-ad88-4228-a25a-d7f4a910ffc3 CLINVAR:36224 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0562c52-f17f-41c4-ad43-815bcbd4de36 CLINVAR:36224 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02b3a559-c92f-4e99-a202-d262917eea47 CAID:CA367402542 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ecb9705-2d66-4a36-aabc-9c715aabe3c1 CAID:CA367402542 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98b072d4-8608-4dd9-9cb4-d9b78b807948 CAID:CA2573102977 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d8c0c14-b496-4f78-9fcb-ddd2964a72ea CAID:CA2573102977 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ea32e64-780c-4c2a-b656-7d2e922f7ac7 CLINVAR:2503894 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1028076-138d-4414-acdb-03bb2f0d3048 CLINVAR:2503894 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d33efef7-487c-4602-bdeb-af3808bd7fad CLINVAR:1299751 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fcd22855-6324-4653-b948-5e1110512419 CLINVAR:1299751 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62d09bc9-c99e-48dd-b6e3-2b372183034d CLINVAR:1299750 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f0e3211-0b9d-4e62-9807-9acb507fecd3 CLINVAR:1299750 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94716bff-41e0-464f-92e4-61e06de35ead CAID:CA409103994 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c575436f-6922-4cba-b8ed-6af0213d41b1 CAID:CA409103994 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc17071c-a6f0-4149-a002-f290290a06e5 CLINVAR:393110 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3960326-ea9a-4e1d-b045-1d4441f50ce7 CLINVAR:393110 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8744d7a3-ac95-48a0-868f-a62b242fdeaf CLINVAR:447515 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 526a1ac4-ab6c-4ebe-98c1-3fc319a15e2d CLINVAR:447515 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15fa67a1-cfdc-4724-b0e5-c553c6eabf2a CLINVAR:36348 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f55a301-c8ca-4ebb-aa2e-6d14efb05be4 CLINVAR:36348 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d1141f1-742d-44e0-9e3c-f9ccce308426 CAID:CA409104377 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f478efc2-5ccc-42c7-b8d6-216cb1866d02 CAID:CA409104377 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac9400fd-269b-4c7e-a4cd-a2ad65f4ca16 CAID:CA409105868 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c1b8e06-e45d-46e6-bb30-f5dbd3475719 CAID:CA409105868 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92fbf359-ce3a-4b7e-8ca4-f998f9c01985 CLINVAR:9215 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f31630c-c83c-4291-ae95-4127cafc42cb CLINVAR:9215 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 758ea453-5b39-4529-898b-65d5d4bec308 CLINVAR:36356 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 436e146e-63b1-4a2a-a211-a63d29259881 CLINVAR:36356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11ce3de9-c518-4b72-a8e3-4b6245d4ebbf CLINVAR:1700660 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7811fb5b-6550-40bb-ab2d-a624bcc50ae8 CLINVAR:1700660 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0cdaa33-42f0-4922-9955-0fca18cf3a09 CLINVAR:586021 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1932003-e5c2-4034-8d07-9feb31ca19e9 CLINVAR:586021 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdc7c9f2-50be-4428-95ef-37df1d834313 CLINVAR:972810 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78369687-79c4-4e90-a61a-dcb8df0887bd CLINVAR:972810 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07fb10ac-3124-4df2-afab-fe522f8dd1ed CLINVAR:36344 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f5d6513-c7a9-4195-9ec2-1ec4f0273400 CLINVAR:36344 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccc37d6d-27be-4c59-9f85-26ad08586cfc CAID:CA409110466 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29af446d-e37a-494c-8351-ccb08ad96b0f CAID:CA409110466 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab276d8f-2b38-4cc6-b3fd-ca010e912ba9 CLINVAR:875084 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65ac3ec5-1294-482b-a706-dfb780df48bf CLINVAR:875084 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de1452fa-9145-417a-97c3-13f8f48d3137 CLINVAR:2505289 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de20992e-60fd-4ef2-9aa5-9e7dc23db119 CLINVAR:2505289 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae760a6e-e2c3-478e-b3ae-5a818009b1a9 CLINVAR:293710 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ac0be00-de2a-4e59-a7ef-398b8065c42f CLINVAR:293710 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43533664-530d-4782-9792-6cc1b6fedf40 CLINVAR:2505287 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b8906ac-cc17-4ac8-8897-d841c2624bf5 CLINVAR:2505287 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 795a67f2-c0bf-43f0-93b6-33e42004d0e5 CLINVAR:2505286 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06294765-d96c-42e0-b420-402cdbbd1947 CLINVAR:2505286 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 023cb31f-d938-4f04-a3b2-b76b7a3f20b2 CLINVAR:2505295 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4cd16397-5ad9-4373-96a3-f7b07cbb3a4f CLINVAR:2505295 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62ae0892-aa76-4e77-8252-08b9b052d883 CLINVAR:2505294 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c411916-eb0b-4f94-96ce-d13f604439ce CLINVAR:2505294 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b5b8266-8616-4c96-84ac-b82249d5edbe CLINVAR:2505293 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd4c9c8b-6434-42ef-9a0f-1bb21425d127 CLINVAR:2505293 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01980830-2832-4da9-b311-1e6a940f2ac9 CLINVAR:2505292 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b72dbb58-f158-4ea9-8165-30d4ad929af1 CLINVAR:2505292 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51f6ac06-79d4-48c0-981b-ea9aa7ad324d CLINVAR:2505290 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d143cd1-baf6-4b99-ba75-c6d65d201f2e CLINVAR:2505290 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a28bc43-57b5-4429-9d79-748451824a64 CLINVAR:877041 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19427541-5cb1-41b6-b3ec-4bfb69e55d21 CLINVAR:877041 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c41f057a-c7da-4257-afc9-d6f8cc1a7ba6 CLINVAR:1324771 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20fc5e79-77a7-46af-bb47-a15aa92e98e2 CLINVAR:1324771 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cbceb29-083f-49a5-a029-f2d09a956fe8 CLINVAR:701285 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee46d25d-5873-414d-b45d-71b5edf5dda3 CLINVAR:701285 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89bb96dc-f9a8-424f-af5a-f1a1a43ace0d CLINVAR:627234 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a0a5ab4-88af-4148-84f2-2460e53b392c CLINVAR:627234 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e295b621-1307-44d9-907c-2efd3bf6ae08 CLINVAR:2506413 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 095cd625-d96c-47f0-a088-ac75d7d37990 CLINVAR:2506413 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 556bd11f-b6b4-4bdf-8a4c-b5d1f944a249 CAID:CA400034479 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68006aa0-4d68-40fc-b321-0de13aa2bfa8 CAID:CA400034479 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7411efa4-dfc4-4b91-a3c5-80a9bfb54d4e CAID:CA399806084 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96cc757e-3660-437c-8f7e-c17c19609765 CAID:CA399806084 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 431bf29f-c5d3-4bd2-8546-6b6ff9232774 CLINVAR:2181112 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c9a3f66-2bef-41cc-a430-706f1a3090ec CLINVAR:2181112 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77705e7a-c5d8-4b88-b835-1cdcb34bcfbe CAID:CA915940780 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen baa574ac-1cc2-4eaf-9680-43c78f752112 CAID:CA915940780 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77909f22-cc5c-46d3-86b5-5619064e97a7 CAID:CA399802364 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 17a2fcb7-8e2e-40cb-b259-e35e68105057 CAID:CA399802364 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3233a1b2-9c55-4129-a5c5-54a30a62a10b CLINVAR:892302 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1668ad02-dbc3-4e0a-82f4-ea84b3ff37bb CLINVAR:892302 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18a6a8fb-9586-426a-88ef-281f136191cc CLINVAR:983532 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d3a9e31c-a033-439d-9888-0d21b191e2fb CLINVAR:983532 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f1afd2f-0b81-4fcb-9039-2d273f7b96ba CLINVAR:573140 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5efda98a-07a4-4228-93d8-34713adaef7a CLINVAR:573140 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90710464-d0c6-4804-a34f-67637eed2e5a CLINVAR:932829 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c997e432-b38a-4124-b70f-c78aabea00a8 CLINVAR:932829 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bbcaac0-7c8b-41ce-bd3e-c70361bc415b CLINVAR:189008 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f6ce68b-b64e-4722-acc4-4252ea80181e CLINVAR:189008 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3445b5e6-e4f5-4d24-91ca-ba2e590e87bf CLINVAR:2058739 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17f4bd9c-b517-42bd-a579-714d659f6d72 CLINVAR:2058739 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e13ab07-3a6d-40e6-b3de-c4fb881e36b7 CLINVAR:1623 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dbd2fead-b995-4243-b31e-d25dc8b842e4 CLINVAR:1623 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db620e79-d085-4786-91fb-a42879e3b5b7 CLINVAR:406374 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2852f372-c642-4c06-b612-f096d7808482 CLINVAR:406374 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00ed46d9-a273-40cd-bef2-795c71693a53 CLINVAR:42420 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e5da068-f60b-4379-b36d-b4ae9fee8e9d CLINVAR:42420 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ba2cae6-b12f-4c9c-b4aa-9373736b9909 CLINVAR:426140 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 19465909-4e95-4d73-9606-b09d16797a9e CLINVAR:426140 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39730f55-0fba-4b69-a3e5-f70a0f678846 CAID:CA916084365 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6507adba-d176-42c8-a470-3611054b21c8 CAID:CA916084365 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcdd1130-ecc6-4e86-9b76-418ec577cd33 CAID:CA392325892 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 464d027d-d19e-434d-9667-89b67737a3d5 CAID:CA392325892 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 323b1898-bdf9-4e89-842f-065e816b12cd CLINVAR:200198 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 42255d96-358b-4873-bb60-3d9e57db91bb CLINVAR:200198 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e1fbf06-f12e-41c4-ad93-9be1efbd3b96 CLINVAR:431935 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eade2509-6df0-4f2a-90b2-2567db1e09ff CLINVAR:431935 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11312949-5466-4b68-a6cf-2052be9ef87c CLINVAR:406332 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9d322fd8-e19c-4745-8ee1-f6aa4c7155b5 CLINVAR:406332 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04a88f77-1e03-4830-8bfc-c51afd68aba3 CLINVAR:373598 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07e7bf08-5dea-4c4c-92e2-26b85eed59e8 CLINVAR:373598 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6b61c82-ec47-48ec-8e65-befa5d940142 CLINVAR:189623 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56627f52-b624-4148-81e9-48b977403866 CLINVAR:189623 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 492b7e83-5603-4ece-bbcd-2ba9242aadc6 CLINVAR:217360 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c2ecec86-b09a-42dd-be4b-2291a67e95f6 CLINVAR:217360 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1a93646-c7e9-49e1-8c39-f8b11303a3d2 CLINVAR:286706 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 55f91ddc-57f9-4c78-a370-f709bdad7b45 CLINVAR:286706 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb4d47c9-6a02-4ef9-9a3b-a1c316d331e2 CLINVAR:452682 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 308daa59-2ddb-4a14-92ef-9648d0bbd971 CLINVAR:452682 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4f55d3a-4234-4bcb-ba81-41e997e0ff99 CLINVAR:547390 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c027124d-9a93-4122-94ef-35676b26da58 CLINVAR:547390 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2db35b0b-701c-413e-9d25-13e71d457597 CLINVAR:658951 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ec16cc11-8bc8-4afb-a022-f95371287b21 CLINVAR:658951 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e4e75fe-6f53-4bf6-b6ac-8d8c2a0b24e3 CLINVAR:803714 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d9aa9608-2fdc-4cb0-9712-a12c6b8451d9 CLINVAR:803714 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcd61889-b0a0-40e8-a965-5bc829a523a2 CLINVAR:870171 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 970ae1be-ce56-4fcb-aebe-ef75741489ec CLINVAR:870171 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56a6144b-1814-4d8a-bd87-694cac8e7906 CLINVAR:985267 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen affb0935-0870-4e1d-acc4-66a9a2d7c591 CLINVAR:985267 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3a57f34-cd3b-47e1-a9a8-ef53d719cf5d CAID:CA2573102976 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29be631c-c862-4144-b19d-96a5aa56a077 CAID:CA2573102976 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3ab233e-9c64-4586-ad97-77fe606f43f8 CAID:CA2497028747 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c51cddc-4a50-4e2a-86ad-272e6962423a CAID:CA2497028747 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f7f148d-11f1-4a18-a76d-d25a1c1ae753 CAID:CA2573102978 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e74228fe-a9f6-4280-ab84-abf388488117 CAID:CA2573102978 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c15f3cd7-baf2-46f3-9e87-4f17fa80be7f CAID:CA2017997780 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e9d013b-4c4d-46b9-97e8-2864687ecfc5 CAID:CA2017997780 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 019654c8-84a5-4ac5-9296-9f9a709cf97a CAID:CA2017997779 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e229e85-ddb8-40ae-8274-ea5ee34ae54d CAID:CA2017997779 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d20d52c-80e0-4e3c-b0a0-17406a30e2b0 CAID:CA2496602227 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a113944d-5241-4dcd-89c8-687b71241e81 CAID:CA2496602227 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1964ea6-d72a-4272-844c-6f765795baf8 CLINVAR:1708917 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 199741d7-3157-4263-bdc7-a02cb593015e CLINVAR:1708917 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 291e90de-4c5d-44f9-8336-9cbd8e16dc59 CLINVAR:36197 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4f1bb25-90fb-412e-9c88-89ddbb3c4bdc CLINVAR:36197 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a21c7221-55c2-4e67-8493-d1ffe3d0f5d2 CAID:CA367397060 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4169b81b-cf00-454e-87a0-1fe1de0eac07 CAID:CA367397060 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16622437-ce58-4bdf-854e-735f89fbc4b7 CAID:CA2017997767 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 440d586d-9e75-42f8-845f-fbb74725d682 CAID:CA2017997767 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 709c455a-a917-4550-a8e3-9cf1ee77e895 CAID:CA2573106064 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8593a59f-d925-4179-bdce-28244ad025d3 CAID:CA2573106064 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e45d4e9b-4756-4304-b275-36160bc46d31 CLINVAR:36191 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 37a7c69a-e18a-4ee4-a4ca-6d19db9eff06 CLINVAR:36191 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d42e22d5-2140-4401-813a-fb766b19f595 CLINVAR:1301411 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e3ec2d78-a892-4eaa-959d-4acb27811734 CLINVAR:1301411 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71461312-0527-40c6-b974-ef13abd79f68 CAID:CA1139771342 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10ebc031-bf76-48fe-a5f3-f5d8be9de5f0 CAID:CA1139771342 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8c91407-0449-4a31-adcc-d2fc2c6aff61 CLINVAR:817706 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 97bdd391-0aa8-4084-856b-af2cdcb2b196 CLINVAR:817706 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c14817d-330c-43de-8b89-04b849d75a5c CLINVAR:597013 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80a150c6-85cc-4213-b444-cb30aef16ef0 CLINVAR:597013 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8fb7b38-0cca-47b0-b834-026704a5dec5 CLINVAR:654347 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b04656c5-ad00-4baa-990b-9b45fcd41eef CLINVAR:654347 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76f143cc-613c-4f92-88c7-343b2556c32c CLINVAR:850340 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db6e9fe2-395e-4105-b607-e648b4308b99 CLINVAR:850340 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61ca61c7-fbb2-4c0e-a4dd-43e335aafbb3 CLINVAR:418562 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed036c82-9aa6-409c-9bd7-dffe0f03bcb4 CLINVAR:418562 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a00de108-49b5-44f3-8b8c-172f8558ec56 CLINVAR:211455 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72440b7c-1d38-44be-b771-b7248ee6ed55 CLINVAR:211455 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca4ea9f9-8e9f-449e-b097-c1b83798288d CLINVAR:804844 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab5caf44-b575-4646-9a06-93c1b83b5b27 CLINVAR:804844 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea9d26b1-ca64-42ef-9057-ff943d7a716d CAID:CA2017997776 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 556544e6-9f7d-443a-b455-5d9fd91d3c2c CAID:CA2017997776 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8c1ff80-415f-49c8-af82-fdb9bf074a86 CLINVAR:393448 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad86efb2-785e-442a-80b1-d0c67060deb5 CLINVAR:393448 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35024f30-c98f-4296-bdc0-3d7da17d3d9b CAID:CA2017997775 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1960863f-91eb-45c3-b49d-311af34e153d CAID:CA2017997775 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d1c44be-86d2-41f6-9dce-ab9db798d854 CAID:CA2017997774 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 20e7420f-a6e8-41dd-bf02-ac461ca1b82c CAID:CA2017997774 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99537e2e-e359-4935-a571-aaaa5baddd03 CLINVAR:421604 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2cb12ad2-7777-4784-ab40-cd7379eef1e8 CLINVAR:421604 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0db503f0-942e-46f0-9f2a-942c548d4b88 CAID:CA2017997773 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 748dbc0e-f655-45c9-8fb6-dd8245a68f62 CAID:CA2017997773 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef57c9df-44ec-4278-930c-cf7ed8304968 CLINVAR:1320655 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d28e76ca-060c-4f91-8d04-b1c3ade0770f CLINVAR:1320655 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c406e13a-7e02-4dce-9424-bd11513b73c5 CLINVAR:435298 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46138a9c-4afa-4ed3-94e6-a581e49f6eee CLINVAR:435298 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f26c8d6e-f4d6-4de9-811e-a0315a59a9c9 CAID:CA2573106102 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9c9530d-2cfb-40c4-a1cc-48da228bb125 CAID:CA2573106102 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aad311a3-1851-42f9-94a9-8d6b0ff30ee8 CAID:CA367397036 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8738a9e6-b09a-401c-ac9c-a8b6f9beff4e CAID:CA367397036 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c7b47e3-9a80-4c31-95ba-2b7e2cae91da CAID:CA2573106063 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c733acb-d813-4801-a35d-426f29d430e0 CAID:CA2573106063 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5e1ebae-b306-4288-bc93-14fa4ea7062f CAID:CA367397114 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e65c871f-815d-402f-a4dd-d45e579fae7a CAID:CA367397114 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eac1f37a-f1c9-42c7-a77f-9057807c0638 CAID:CA367397285 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10b5d029-36d8-4610-9975-316b257a5fc7 CAID:CA367397285 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca203c35-c493-4652-a8a4-25d62aa740d4 CAID:CA2018007672 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 604f010e-036a-4174-8263-1089e7756ea0 CAID:CA2018007672 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0550cb17-a0a2-410a-9081-6c139b529abc CAID:CA367397309 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5a47459d-84f3-404f-9450-8eaf8d1dc811 CAID:CA367397309 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 332125e0-1bf3-4930-9cbc-bbfb09b894e9 CAID:CA1139771322 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f5ef476-041b-4e4b-802f-4fff615bf815 CAID:CA1139771322 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 425f3880-5000-4901-b0e9-24493e3ffd6b CAID:CA367397313 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f9489dc-834e-45a8-8055-3361dc24d7a0 CAID:CA367397313 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62883abb-1719-4707-86e3-384359249bdf CLINVAR:252467 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84b360e8-c242-42a9-893e-31bb60312062 CLINVAR:252467 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccf973e5-c5b3-45ba-95e7-2e097e37106d CAID:CA367397324 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f0a1944-7bb9-4e4d-83b4-567d7b04b96f CAID:CA367397324 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ce05e65-8007-4602-aa17-9aa8c1dd87f5 CLINVAR:36188 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a14bf8ee-cd4c-4361-9d53-12a5efcec9fa CLINVAR:36188 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9ea7c19-8c38-42c6-af47-b0cfe779f77a CLINVAR:811525 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 35eeb102-7f38-47f8-ac02-4eabb32afc95 CLINVAR:811525 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 561bc494-f848-415a-af09-203fcd2a7928 CLINVAR:371635 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 482d6e3d-15ec-4f5d-bef3-00724dafa193 CLINVAR:371635 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 670ed761-8618-4e83-bb87-f6eb50e346f6 CLINVAR:932836 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22912014-66b6-4caf-aa5b-b41d6046c810 CLINVAR:932836 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cc1a89d-c6da-4c8d-902b-c876ca9c6953 CLINVAR:811520 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e285f14e-8d97-4db7-8673-93ca08ec96e3 CLINVAR:811520 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 024f3756-01fc-46aa-b2b1-5e5b17bea86f CAID:CA1139532272 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen abed011a-def9-4258-8eac-dc79280631aa CAID:CA1139532272 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b47a1425-d1c6-44de-aa8f-939e7c1145bc CLINVAR:965068 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4d21f06-9ffd-4f14-a34a-318dc7aa9b46 CLINVAR:965068 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59c4748f-66a1-4ba2-8951-be9869f54b88 CLINVAR:291163 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1664d0f6-c8cd-415c-9447-7bc9aa0a2a09 CLINVAR:291163 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cd51e89-f27d-429d-9b30-c8c907a125cf CLINVAR:370981 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5565cea-316d-4a53-8b88-56d890368e29 CLINVAR:370981 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eecf37c2-a84c-4e50-9127-83a728ecdeec CLINVAR:932832 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 11ba69f2-8c92-42f9-bbfc-3ecf751c7012 CLINVAR:932832 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1f89bae-44d7-4488-8552-a0fbdaa13cc6 CLINVAR:932831 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0064b218-6ff4-4378-a527-7bc791579190 CLINVAR:932831 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eacaf6d2-378d-4eaf-ad18-1bcf1d3aefd3 CLINVAR:656452 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ada2d354-3fea-47d9-8223-bc15bc25a3c1 CLINVAR:656452 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fabcf72-9b17-4484-b310-592661c9ed2f CLINVAR:932839 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a911a2b9-0231-4c38-837d-b69fbc332578 CLINVAR:932839 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86e2dd38-b4b4-4d75-91a5-52fc764d440a CLINVAR:178503 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 91de0d8b-74d6-4aab-9b60-a7f1141bf03b CLINVAR:178503 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f66fed3a-5adf-4155-a311-a1b2cbc69ee5 CLINVAR:446446 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27bbfc72-2b10-4374-99f1-969a3329d54d CLINVAR:446446 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a16ec77a-3019-4953-b81b-6d78d933da67 CLINVAR:265402 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43b2bfc6-8d7a-4a96-a2ef-9ac1975ea0a5 CLINVAR:265402 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6bcc5e0-186f-45e3-b721-c6f0b4ff83bc CLINVAR:2570628 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e67053ec-3a2c-4b07-8dd2-6004db928ee4 CLINVAR:2570628 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15fdd95a-6b93-4a81-ad59-b58d851cde9a CLINVAR:1698736 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05642455-8600-4557-a069-00474623b563 CLINVAR:1698736 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b955458a-b3e2-42d9-9103-23410b65e3a8 CLINVAR:2570630 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba10a31e-15dc-4069-b4df-9f7f8d790606 CLINVAR:2570630 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbf55a0d-b74c-4fc2-ada4-c169eb342cb9 CLINVAR:2570631 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c16ee39e-e508-4db3-a370-973d4f05dec8 CLINVAR:2570631 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e607d62-8ae4-4c53-89a5-a4e2ab65f7b7 CLINVAR:2570632 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 02fa506d-ffa3-4c0c-8cb1-2f9775cfe716 CLINVAR:2570632 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b24e52ef-ec5f-4f21-8b2b-533d1d3a4335 CLINVAR:2570633 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d24edc4d-a13c-4eb5-b329-09edc0735d94 CLINVAR:2570633 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe60abf5-6b1d-4522-8533-668e18df55e0 CLINVAR:2570620 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2877f871-7f23-4e83-9cff-a2360fd25a32 CLINVAR:2570620 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93ab3e94-b95f-47f9-b9ce-3d2700d9ce1a CLINVAR:2570621 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca5b543b-7b99-4010-a405-cb62325f9c2b CLINVAR:2570621 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2667adfa-006a-4dc6-9918-8480091f31e3 CLINVAR:2570622 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0deda69-e1e0-4d0a-a331-ff23cdfda5e3 CLINVAR:2570622 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3927d997-c1ef-4436-9c91-c9b9c2a9fd67 CLINVAR:2570623 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65f4f545-bea2-4026-98ec-f825c6b65e1f CLINVAR:2570623 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a97eb1a-4413-4317-be89-059aa36556b1 CLINVAR:625855 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10be6757-55a2-4a89-9ea9-bc847774c4fd CLINVAR:625855 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31410b64-0ca1-403f-bc8f-798078cb1a45 CLINVAR:2570624 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5481739d-8596-4d18-bd4f-bb1ee3cd6423 CLINVAR:2570624 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b3d4d89-d991-49ae-92df-1b267d182120 CLINVAR:2570625 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 242cc141-8c8b-44de-ad46-2416d247fd6f CLINVAR:2570625 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 633a17d7-3143-45af-9c0a-157e9a0e5838 CLINVAR:2570626 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e48c5d29-1ec1-4920-ac0c-e4939351bd61 CLINVAR:2570626 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d7d7f25-bf18-4075-ad21-1211c7bebd4e CLINVAR:2570627 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8183d26f-fc22-47b9-a989-75bd328cabc3 CLINVAR:2570627 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0486b962-d9a8-43f9-902a-e7403b8a8348 CLINVAR:21077 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b3991224-5252-43b8-a07f-434b09163ced CLINVAR:21077 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e73743e9-0aaf-4c6e-a09d-0125ba54c6ca CLINVAR:2169517 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a0175c68-4d0b-4b3f-a201-b3be5c7b7d81 CLINVAR:2169517 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2f04fe6-cf85-4e0a-a6de-0811067574e7 CLINVAR:1522625 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d3298004-388b-4ec7-960b-16501ce3bee1 CLINVAR:1522625 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a75f7e30-f3c9-4665-bbe9-3aa78d3be60a CLINVAR:2574162 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 52625882-c408-4b75-9dae-1ec385ff823d CLINVAR:2574162 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a37ea60f-cd6c-46c8-ac0a-b32cec502a24 CLINVAR:585909 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14f29bc0-8a2d-4a56-8c9c-c9cf228c7ffc CLINVAR:585909 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a9004a2-f01e-4e71-bdc4-37af69d7759e CLINVAR:1256304 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c19633f7-d2c1-4b58-b85a-041f8c2dc3ac CLINVAR:1256304 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80edba71-55ef-4c56-91e0-70e99ad80a1c CLINVAR:447384 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd7d1db1-27a1-4d24-8230-9557f40bf16a CLINVAR:447384 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1be5288-3d5a-48ba-8f66-09f802979b7b CLINVAR:36178 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d9a0244f-514e-41c0-9d0a-ded18af8d2f7 CLINVAR:36178 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52037b5e-4b63-475f-abd4-db2bdf88b4cd CAID:CA367398764 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ad258e5-caa1-4c3a-905b-678025710c16 CAID:CA367398764 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24e7a6af-c9ce-409c-8e89-b1f309e8dad9 CLINVAR:36177 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 63474c95-6590-4662-8c2d-1f59053fd2ae CLINVAR:36177 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cce82f38-f5cd-4471-abd2-4a4b43a7bc29 CLINVAR:447382 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b5142a08-dbe3-4f60-a20a-1c6780ea0682 CLINVAR:447382 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 657ca4c6-d0d1-4058-b430-451eab7a843c CLINVAR:804832 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bbe1faf2-7c8c-49dd-9bd1-664d216b6685 CLINVAR:804832 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a95a3093-3adb-4983-a095-9e93c1724580 CLINVAR:280955 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6298996-9926-4c2c-8c6d-7c3f3c540e62 CLINVAR:280955 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcae911b-4d2c-4580-83b6-4c11e3fb8158 CLINVAR:638014 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f60dbdf-88bc-4a95-ad91-854ae40bac8f CLINVAR:638014 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cad9116e-2199-4174-a3a9-934b2bde84d5 CLINVAR:960182 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bd49feb7-aba9-474f-89df-fe7032e8ef40 CLINVAR:960182 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8915ae81-ba5c-49b6-9088-a2aaee4dfd97 CLINVAR:2573146 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf6ea350-998c-47e4-8f61-7d7e5de4196e CLINVAR:2573146 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70c56124-d89b-46c6-b4dc-5d9e0cdc8834 CLINVAR:1513387 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e97ce63-3ec7-4621-a976-2f0ac5511bfc CLINVAR:1513387 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c1aa49d-994a-45c8-8a0f-6b6a5d211266 CLINVAR:483420 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb066846-35e6-4173-a9ec-dd89bab3c20e CLINVAR:483420 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a13020f-f30e-4a2b-bc3f-bcbe5956ac80 CLINVAR:412149 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b05e2576-107b-44b2-ac75-8ad2a7f50a84 CLINVAR:412149 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6464214-9204-4ff7-b9c6-5bc2823b7347 CLINVAR:825706 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db2f55ca-dc78-4177-8f35-034343cf325d CLINVAR:825706 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a6f7b11-ce3c-4a69-b326-6e8e4ef063e7 CLINVAR:825692 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4ca8c37-758a-49ed-9f5a-1941d37c9ad2 CLINVAR:825692 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8484469b-8b4d-414e-9ff6-30dc7f50f02e CLINVAR:485537 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 077abc1a-8fa7-4154-b381-c88ddad4e575 CLINVAR:485537 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99622dcf-54fb-4902-8218-a214d2ccb596 CLINVAR:825630 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 667df5d4-5faf-40d1-961c-ab09e71afee4 CLINVAR:825630 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d252dcb4-7d4f-452c-b3ab-ca1820d02e25 CLINVAR:483441 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55948ed8-f759-4e34-b2a8-62add4b0fd24 CLINVAR:483441 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28b81069-71cf-474a-b84e-a0df448bf0d8 CLINVAR:477252 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f78e0408-825a-4a9a-b822-d90e6c3a1f5d CLINVAR:477252 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa3e777f-38a7-451c-b766-2821c591cdb7 CLINVAR:804344 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5cf377ea-5ba7-4d63-b28c-a0b0003553f9 CLINVAR:804344 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e87a1bc1-aebb-4256-99c0-c90429fd5b39 CLINVAR:426122 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 507aa3be-5a13-4379-affc-c9244f3d3c99 CLINVAR:426122 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae7e8ffc-152f-450a-8817-d60d8165f4f6 CLINVAR:553638 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c39512f4-b095-40f7-9a0e-f1c89233ebe6 CLINVAR:553638 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2bfc56a-de92-4de7-aeaf-e03d5db5b8ef CLINVAR:102594 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b1c4685e-23c4-4192-a870-0f0439409391 CLINVAR:102594 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ed5f658-0620-4039-9586-eda162fd73c7 CLINVAR:102765 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 45a7f4eb-c8a3-4a9c-9acc-bd1fc076dcd9 CLINVAR:102765 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 914825b5-4225-4c8d-8ed2-443ce85aedf2 CLINVAR:102903 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f7d1e45-f136-4d7e-8e33-93e0274979be CLINVAR:102903 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acc875c3-2851-4784-8695-0e3e37670e3b CLINVAR:102503 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6280832-dab4-444f-937e-dd1697085628 CLINVAR:102503 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 092bd84e-2669-4713-9d16-8e8619eaf8b7 CLINVAR:552806 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07c2ef79-30c8-4f38-8f2e-739203486409 CLINVAR:552806 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47dba88e-5148-4a95-9313-5f023b5ed33d CLINVAR:725756 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 798b3028-9384-4446-a7fc-74f7d0087db1 CLINVAR:725756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 807c652b-d7e7-4528-8acc-5c16ed75ddcf CLINVAR:733267 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 620d62a8-3ede-480a-9326-94adc88916ac CLINVAR:733267 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dba83015-b2c4-421a-91dd-58f88f9487b5 CLINVAR:755030 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4447606d-2a26-4c25-8fed-764f64dd5eb0 CLINVAR:755030 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2d70e4a-b281-4528-9222-18a1ff596cff CLINVAR:760907 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7ff997e-7b3e-4100-ae1d-cf82c339be0a CLINVAR:760907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3b0a015-de4e-40d0-8ddb-51407aa887ca CLINVAR:883189 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 395ba78b-2f5e-41bc-99c1-baddb265f801 CLINVAR:883189 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29e46035-0ef2-4953-8f45-1268bef90a2a CLINVAR:991620 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7fc72b61-4f47-4098-8362-40fefe7ffd0d CLINVAR:991620 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57e03f3e-05c7-422e-981b-6784cb5d71e8 CLINVAR:991623 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 483bbd33-2a8f-4ef5-8d65-5740a440decc CLINVAR:991623 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a78535a3-d776-4a5a-9ba7-d8325090cc7d CLINVAR:991624 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3722cb89-7c2d-4e8f-a9df-09f4c3cac26e CLINVAR:991624 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7729907-00dc-4896-a856-d78999842532 CLINVAR:991626 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 590bf582-6c41-4995-9f06-849763f8cb8d CLINVAR:991626 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ef9b1d0-82d8-4c39-851b-84c86a23153f CLINVAR:251525 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1931dc48-5d35-4ac3-8f71-3dfa8a6a5018 CLINVAR:251525 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79dd9b5f-ee90-4bea-a623-b85037c9efbb CLINVAR:441199 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ddd91831-e123-4c37-98ca-933d1b5d4e1d CLINVAR:441199 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6014db9a-06fd-4b11-bf04-85b38797ee67 CLINVAR:251526 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf234f63-7f34-4c04-91fc-49232f71aed0 CLINVAR:251526 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb23ea11-0f3b-4836-b37d-529bca2312a1 CLINVAR:523725 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5249c102-cf06-41e4-81a4-c9a799612a48 CLINVAR:523725 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1aa447f7-f794-4c91-bb80-c287d2192d95 CLINVAR:251527 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ede82db-0d37-4ccf-b6d8-89de9d098fcd CLINVAR:251527 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93807d19-01be-4817-b0cc-f4d57ddbb0cb CAID:CA367401753 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d56c1bd-c030-4eb5-8764-5c4238d59827 CAID:CA367401753 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cce9707-5db1-495b-af7e-ea2be58cbc1a CAID:CA367401755 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 271a8501-4a45-43a5-8a04-abf5f7fd1314 CAID:CA367401755 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2af6f2c-a38b-43da-a720-f4e1ce8d642f CAID:CA2573102979 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44098f4b-1f3b-4a3b-a3c9-7f9b21f9f2ee CAID:CA2573102979 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bd4983b-97df-44b0-b9c7-c26567918ee7 CAID:CA367396876 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34f37b84-5f3c-4da1-8a18-997eeff6ed89 CAID:CA367396876 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faf5f072-147d-4b91-814d-553176278f22 CAID:CA367397326 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6cc077d4-b3ca-4831-9999-65d1a641488a CAID:CA367397326 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6582bbb3-13dc-4a17-8c3e-6630c164c50b CLINVAR:447412 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 506165b0-3edb-4e54-af80-8982b3b214f8 CLINVAR:447412 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b414f2b3-1172-420f-954b-6802fd4028b3 CLINVAR:16141 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d8842e3-0e58-4a40-bedd-3ad2af33d295 CLINVAR:16141 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2bc0fed-d68e-4c56-beda-f67fb51c51ab CLINVAR:36236 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd9d47a7-9262-40d8-8cac-8afd2eacdd76 CLINVAR:36236 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 972e0490-8cbf-4475-baab-837e0d74ea31 CLINVAR:129143 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3423fcc3-104a-47c4-9617-b040872068e2 CLINVAR:129143 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de3afe45-e083-4f2b-965a-22a6ee02bea3 CAID:CA2017997770 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d3866183-e723-4cc0-9d54-43831c8be8ec CAID:CA2017997770 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c0e47e8-0e3f-40c5-acf7-ec313c56a1a0 CLINVAR:804835 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 958267d0-72a7-4246-b4bc-017d7e858a74 CLINVAR:804835 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1194a144-4361-4536-896d-36305f5c5c84 CLINVAR:1732973 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60a07f16-cc4e-41ea-842b-7d80d4b6ab99 CLINVAR:1732973 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b6d46b1-420d-406e-b37b-46b95a3abfd8 CLINVAR:2574164 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f19edf99-f157-4ab6-9013-d2d48b9b1085 CLINVAR:2574164 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3508cd7-3344-4560-b5ad-eec67f4423ea CAID:CA386965806 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f4b7f09-bc75-46cd-88a4-1aa5ec40f8c7 CAID:CA386965806 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1c24f1e-3f76-453c-93ed-6e0e132d1e6e CAID:CA386969831 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 641bf411-0323-406c-a5d5-305c59ab2820 CAID:CA386969831 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e394b508-8741-4d7d-9bde-29af4dffce27 CAID:CA386969829 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06e972b1-1935-4794-98b2-cc413cd3b055 CAID:CA386969829 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14c8e18c-f95e-4341-b8fb-dc20806c1f46 CAID:CA386969822 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c6fd9cc-f996-4e39-8ad0-55af2ada038f CAID:CA386969822 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdc00ee2-5478-4cfa-a528-18490fcc2fb1 CAID:CA386970356 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 041a6626-f8c2-454d-a709-2674209dd056 CAID:CA386970356 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de8756d9-cfad-477e-9f64-8c34890eb824 CAID:CA409106019 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8a1713d-4037-4df3-b661-cbb415a4098a CAID:CA409106019 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41628d33-ef40-4b1d-8984-e6d04ebf12fd CLINVAR:1744896 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8575149f-07aa-4032-afcf-77b49b98f1fc CLINVAR:1744896 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f51fa28-8acb-4d7a-9dde-56b996bcd6cb CAID:CA409107443 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d73ab0f5-ff38-461a-989f-93cf217d9664 CAID:CA409107443 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28006030-6f3f-4f6c-b761-559b9daed2d6 CAID:CA2573106200 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6bc0b0e8-a861-4e43-9bdd-3d4b9871e393 CAID:CA2573106200 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 917f9c44-05f4-4040-ae8a-79d194970c4a CAID:CA409108146 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d874862-7b66-4796-b35d-08670456c3d1 CAID:CA409108146 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3039befd-ec36-4bfe-8287-ac19725be35a CLINVAR:585923 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae699800-62dd-4ed2-a302-9f29f6fcc665 CLINVAR:585923 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40740501-466d-435c-abd5-0a24a2cdbc63 CLINVAR:804834 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f34bbfc-ac34-4d9c-8274-40bd428b1211 CLINVAR:804834 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31bb5f32-c37e-46a3-a825-ba9c1d70ebea CLINVAR:481178 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 654477f8-69e9-44e5-bf59-74bff39c0221 CLINVAR:481178 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fcc1676-4efb-43b1-8d3f-c5135d6e75f0 CLINVAR:532446 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c7d5ddba-9b9a-4ef2-b336-e4802966b030 CLINVAR:532446 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e29488f2-618d-4ddc-a452-f3413e7d10a4 CLINVAR:692767 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f9a4e09-c0a1-4124-bec0-dacd9a30c987 CLINVAR:692767 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32537d16-597f-4808-abf7-6f4a1faa3057 CLINVAR:228859 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d66f07b7-0f40-483b-b5d2-0d341e8a2322 CLINVAR:228859 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0623b1ba-3d57-44c1-807b-87b918add11b CLINVAR:489846 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51b425d4-bc9c-4649-8eba-9b4a21b93535 CLINVAR:489846 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b29abfbf-9e37-456f-bc4c-31bbae37d634 CLINVAR:230669 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d057a1c-107c-4c2d-a4cc-79abbd669308 CLINVAR:230669 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f617fbba-78e0-48d1-a0c4-419f13ad4858 CLINVAR:481700 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f898b6f9-28ae-43be-830b-18a023463c32 CLINVAR:481700 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 822f88a2-4d6a-4bfd-a3a4-c689ef726a8c CLINVAR:481692 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0efd1229-e996-49dd-830f-3bd6df888e2b CLINVAR:481692 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73862c5e-3636-4c7b-8aad-f11c4545959a CLINVAR:483261 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1b8d74b-2096-4f76-9d88-7eb83c7d025a CLINVAR:483261 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05f57843-121c-4493-a3a8-6bb817e27aec CLINVAR:584516 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58e35164-4514-4932-977f-281399536337 CLINVAR:584516 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 472b2714-47ef-4dad-a492-0abce9ffed52 CLINVAR:220445 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17d77f26-e71f-4a22-8e6d-c2c85e5d0498 CLINVAR:220445 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da8f2d00-ef24-4a52-8431-91874c6d72d5 CLINVAR:235370 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bbed659a-23e9-4ef6-87fa-4576571d871c CLINVAR:235370 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e5b7892-6de4-40f8-af8d-365a56827d47 CLINVAR:377369 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e0fa9b6-e01e-46ad-a3f6-8e447ebc1637 CLINVAR:377369 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cc197ef-68f3-43da-87fc-a691bc50dd1b CLINVAR:439912 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff074a1c-3d02-4761-bfc0-1284923c5f35 CLINVAR:439912 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1df4550e-64e9-45ff-ab49-d199f5382b43 CLINVAR:428630 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42732aa2-e7e5-492a-a38a-9521e6a875f0 CLINVAR:428630 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ad8bba4-d086-4ecf-9700-130c99370893 CLINVAR:185005 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2eca9e45-fd05-4c1e-992f-5b4486a610f8 CLINVAR:185005 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93f5362b-054b-4aea-bfde-14c53db8900f CLINVAR:921477 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e5b17701-e7a2-4b23-9894-70a62b062543 CLINVAR:921477 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf26764b-05d1-42bf-8903-7e6e476f2f21 CLINVAR:428619 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 95cda548-aff3-48bd-a4d2-c8283a13ec76 CLINVAR:428619 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ba5e644-757a-494c-ac20-14e49ad77181 CAID:CA2229914895 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eccd3a03-e47d-46ba-af18-78da4a3de8b3 CAID:CA2229914895 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 723f501d-f575-4308-8e61-0670dd1d5af7 CLINVAR:21076 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen acf484dc-1ada-44ee-883a-cb178bf08681 CLINVAR:21076 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bbdab89-83eb-496d-a38a-3c498f7d440d CLINVAR:16145 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56d35a38-9f06-4707-ae94-9013411d8631 CLINVAR:16145 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e03581d6-99bb-4b72-9960-5a6c79cd45a5 CLINVAR:972776 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ea42bca0-3e8c-4fba-a864-e39d99d3b2e1 CLINVAR:972776 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5213de8f-b5f4-4a8d-928a-bb091de56b93 CLINVAR:2575092 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9fa614c3-28f7-41c6-8de9-82164816bbce CLINVAR:2575092 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca92f112-6685-4bc6-b946-f070b43e8a33 CLINVAR:7953 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a86377f3-8548-4daf-ac27-320e56e777ce CLINVAR:7953 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 984037fa-c223-4b41-9dd7-ea63f6ac9a21 CLINVAR:2575096 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2591202c-d0fb-425b-9f6a-3d2017c8c337 CLINVAR:2575096 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 340e7c03-28e9-46af-8567-0bb5f5856eef CLINVAR:2575097 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a01b5b3-8a6b-45c8-8bb8-bebdf6f2daaa CLINVAR:2575097 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 238e7673-f7a5-4696-9308-200ee7436128 CLINVAR:2575098 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b0098650-7502-499b-9249-bbb9a27d4b5e CLINVAR:2575098 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c89742e-e110-4750-b6ff-dad1a4981c5a CLINVAR:2575099 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 796852f1-5010-464c-be23-b480d40852fb CLINVAR:2575099 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03dda5ce-5e52-479a-8603-3f6396a1b43b CLINVAR:2575100 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50e3b957-1bf0-415a-9e22-773213b0b901 CLINVAR:2575100 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4977e2d1-a4b9-4a8f-9994-a00f43bc5917 CLINVAR:2575101 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1322706-9ecb-40ce-9557-396a04b05c98 CLINVAR:2575101 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 225cbff1-31a9-46b0-86f3-9f9e6efb0078 CLINVAR:2575093 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45cf0cfd-25e4-467f-87e6-cfcf05c308b4 CLINVAR:2575093 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5569e330-3058-4468-8152-666eea38b963 CLINVAR:293722 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a83a9f4-3f4c-40be-8966-2553aa49757b CLINVAR:293722 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 467e2229-a829-4ce0-ad38-4286b38188c8 CLINVAR:293720 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8abd998-4675-4945-b545-c960e4832c86 CLINVAR:293720 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07efba0d-fa52-43de-b334-3730239aac67 CLINVAR:293719 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d535b18-c40d-481d-b720-df7410630abf CLINVAR:293719 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe836682-3609-43c0-9c9b-f007daf5e85c CLINVAR:875954 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9f28333-0474-4a9b-887e-9a4efaf7d987 CLINVAR:875954 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11840e93-cfc7-468e-8e97-59b7f5cd4067 CLINVAR:293721 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d44c196-839e-482b-84d6-a782f9a6a385 CLINVAR:293721 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c25c89b8-9cf6-4f3b-bd77-7bb8b3b6fe5f CLINVAR:876999 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7548766f-219c-4004-add9-5cae6608f741 CLINVAR:876999 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 357bbd35-05ca-4a01-beea-085ec73bafb4 CLINVAR:293714 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6c6f6f4-bc8b-4a25-bb40-cfad0c1bd228 CLINVAR:293714 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14a56773-d27c-4ff1-83de-d25920d8d253 CLINVAR:252960 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99e6d18b-2a1d-4801-9c22-2f9861602668 CLINVAR:252960 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c31e625c-523d-46c5-a671-560a741edeb8 CLINVAR:293713 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d459c41-275b-429d-ab8b-6b31365ce34a CLINVAR:293713 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 238f96ec-726f-41a7-8ef2-1536ebc0bc65 CLINVAR:242274 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21096ddd-c11d-445c-814b-bd00a3d778a7 CLINVAR:242274 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eac70748-7d05-4b00-95da-046dc469e1ca CLINVAR:1324770 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ed8fdfa-8ef4-41c1-984e-c5877083f48e CLINVAR:1324770 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21612783-3d46-4cb8-b981-4ec7a50cac2e CLINVAR:2575094 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 937d68c6-6772-461c-b293-0e3df0a83163 CLINVAR:2575094 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64a51475-97f7-46b3-a580-e6f1258a5585 CLINVAR:631579 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b843d78-1384-49b4-84b0-142acf47ad9c CLINVAR:631579 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53f81986-7d6d-49cc-9bc3-c66a86bb8235 CLINVAR:585908 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2541602e-5aa2-47aa-bacd-0be1767527c1 CLINVAR:585908 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23d5597a-3871-4837-aaf2-73baf03db8ed CLINVAR:36176 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d03181d6-5818-4e0d-8024-b5b183f56a19 CLINVAR:36176 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bde40382-82d1-4d81-87cc-588ce949e054 CLINVAR:447425 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1a3ff3f-026e-4d87-ad6c-1e566fa5b08c CLINVAR:447425 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0e642ff-8a5d-492f-aa92-77018ab8b74f CLINVAR:1802685 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 565d5efd-13c0-48d0-8981-695e9bce73fd CLINVAR:1802685 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85e66eec-fed3-486d-a3fc-db725cfb5d66 CLINVAR:381598 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d9d565e-4660-42ac-9ae8-f44ec598f227 CLINVAR:381598 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b9314c8-1c4a-47ae-852b-4aca8f6137af CAID:CA367398947 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e41347cc-6fba-4a2a-9fd5-2e5cb89a89ae CAID:CA367398947 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 641b3068-847c-4161-ae31-bd22672c2f85 CAID:CA367398935 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c139e4c4-ce05-4e90-8f57-8a06b2aef366 CAID:CA367398935 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 141b2509-f1bf-4c27-b89a-af91e23627ba CLINVAR:447379 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 70b2acf2-de8f-4f28-93cf-a2f28e4977aa CLINVAR:447379 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b774df9-125f-4883-8be9-c28569ce39c9 CLINVAR:129140 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 32efeb32-1360-430d-a2ff-c0bd5da3a924 CLINVAR:129140 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc460d6d-d47d-4dc2-bf54-198c904f5fe0 CLINVAR:617645 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9688583b-0bff-4dc0-93a6-5a3c364c0b31 CLINVAR:617645 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c97ecdd3-66dd-40f8-9e76-6ba6101f2007 CAID:CA367398869 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df453e39-8caf-430a-b9de-79591c0b542a CAID:CA367398869 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a56e227d-403d-4b2e-9cd2-f8b39b6e3d92 CLINVAR:2578349 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 706fb5ee-2078-4eb5-ae8c-0a5b73abb394 CLINVAR:2578349 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ad867a9-c471-4913-a11d-d7a2aa59123f CAID:CA367396716 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen defed518-0471-4623-b767-9a6bbe066fb3 CAID:CA367396716 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da152540-5ab3-4a93-8bd3-dfa1842582cc CAID:CA367396721 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ef59427-8dfb-44ad-adc7-c836012deac1 CAID:CA367396721 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99bbea3e-410d-4306-a9b3-0e9419d4ff68 CLINVAR:447423 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 453dc197-49b2-45c1-9f10-321ebde0dcf8 CLINVAR:447423 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8e825be-3872-4ff8-aeac-5734a999be00 CAID:CA367400134 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a01ef16-3fd9-4f72-a766-c3db9523aca3 CAID:CA367400134 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 466c18ba-75c7-4945-b04d-be43c84ff753 CLINVAR:1436793 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00932077-a38c-472f-8190-13597610046e CLINVAR:1436793 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c87b8253-a792-4c9c-a916-4eaac12ed055 CLINVAR:16135 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec2c56ea-dfdb-4155-a959-531bcd178579 CLINVAR:16135 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70a48067-23c0-49a8-a8a4-52de4cc2580b CAID:CA367400569 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81012aed-7169-4ebb-b684-eb3ec68c56b7 CAID:CA367400569 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bda1fb42-87d0-4e40-bd53-c4d947a822dc CLINVAR:447418 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 399685ca-43c7-4cf8-81a8-133f173efc42 CLINVAR:447418 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cc07f68-9456-40c6-b004-98d5c1474e83 CLINVAR:435302 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00394ad7-b376-4c27-833f-349f2122489c CLINVAR:435302 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19974e75-815e-4cac-a871-707402f5dd89 CLINVAR:447417 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3bd85a3a-0851-4273-a6e7-26a4fb614364 CLINVAR:447417 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e35fafd0-9e02-4867-a4a1-93b1e3cb365e CAID:CA367400582 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 58095f5b-894c-4320-88c1-61670c8748a6 CAID:CA367400582 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d64ee00d-5bb7-4a82-86e7-9bf89dd16d29 CLINVAR:36243 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ae803e7-80d2-47e1-b784-d1593b2a7ebf CLINVAR:36243 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 792cf377-6bcc-4cd4-9be4-6d76f61b682b CAID:CA367401977 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7183fc2d-a902-41d2-ae8f-0729f870151a CAID:CA367401977 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9aeced5-fe06-4a4e-a256-c59300d414b6 CLINVAR:2428681 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c866d48-03a1-4d03-af04-6e7dd0b3508d CLINVAR:2428681 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91df0ec0-f3b1-40bc-a9fa-cc9df8bd9538 CLINVAR:36209 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aba15730-3abb-419b-926c-dff9fc520ab8 CLINVAR:36209 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3023832f-34a0-4dda-b373-b654b886fd68 CLINVAR:36204 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 27bf072f-cb17-423f-8270-90eab3625b8a CLINVAR:36204 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e859e1f4-bac5-4d13-8eaf-f0c4ae54a88b CLINVAR:585911 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f66a92f-f720-4611-95e5-c95f51f707f2 CLINVAR:585911 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31c7e5b3-0475-4a65-883f-c5f448705588 CAID:CA2497028745 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2f48186-984e-4632-8d27-e82f1ffd7011 CAID:CA2497028745 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22d110f8-b8b7-44ad-9d52-ae333983b31b CLINVAR:994902 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6469246-f599-4763-955b-15e23f826cab CLINVAR:994902 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8cf12bf-587d-427a-89cd-281bb2d1712f CAID:CA2573106198 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8383a6d9-81f3-41de-83aa-a4f35fbc8dcc CAID:CA2573106198 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34979ca9-b572-4c62-b5e5-a3be73103709 CAID:CA409106116 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 31c8bec6-8e78-491f-9ea3-ac5db95183d2 CAID:CA409106116 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c03a5a31-b68c-48a3-b582-287a4a293020 CAID:CA409106207 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d7dc1b5-d054-4431-bf79-84815e04d647 CAID:CA409106207 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f64fce7-0eda-4574-bbba-a866867179b7 CLINVAR:1756327 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34eada26-b2cb-4950-8bfe-8ce8c72998b3 CLINVAR:1756327 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35f375e9-bc44-4eda-a063-1cb734174234 CLINVAR:972818 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cbf6ba44-b875-4e02-80ca-ed83b68d6cc7 CLINVAR:972818 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfc18d8c-7eaf-4d65-b60c-7ccc8efc19d8 CLINVAR:1675516 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4a0018e-fcaf-439f-9a4b-9f34faed6c0d CLINVAR:1675516 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dec0093-acb9-486b-ae5c-dac56686b123 CLINVAR:751827 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b62814d-732f-48fa-a33d-a894e098c513 CLINVAR:751827 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f807b836-9a2a-42d2-898b-8f74148c2833 CAID:CA915940958 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4346cae-9df7-4c97-b561-cd5f3e715b0c CAID:CA915940958 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a12a90ec-ae67-4f3f-81d0-98025cc91997 CLINVAR:323548 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdf6866e-f512-4a95-92e4-fbc12f165d88 CLINVAR:323548 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59c1c57f-b98e-4532-bb7f-3d98b595de91 CAID:CA399801096 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88cf6d3e-76af-4aab-9b8f-2e9a0b0150f0 CAID:CA399801096 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04dc992d-e866-4706-a6a4-8f81372c3c03 CLINVAR:888905 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca7519ec-572d-496e-b2d8-0afbf51c70dc CLINVAR:888905 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25822d11-d0e2-4fe8-8ca0-a83daa18b2df CLINVAR:323571 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7bc4c611-ec04-4a31-976c-f3d87eec51dd CLINVAR:323571 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dd2a818-8998-49c0-b648-a8c9372d4d0b CLINVAR:2578344 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 01b6c7ca-c4c5-4664-9488-b0cd6fa0ac02 CLINVAR:2578344 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8af2fd55-2d23-45e4-9b00-433935ec8038 CAID:CA409103809 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 04f82526-d194-479c-a257-f9a7f837adbb CAID:CA409103809 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65efd04b-a9b0-4b36-998f-412fc4251fe1 CLINVAR:422466 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 225dc294-99f6-4e9d-a74f-2f7f70c722b4 CLINVAR:422466 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4afaa23-cbe9-42b5-bb56-dafe73a8bbfc CAID:CA367403541 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7979a2e0-51b8-4c06-97f3-ed79f6290d2e CAID:CA367403541 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac15e9e6-6633-4a11-960f-584e1021f69b CLINVAR:393453 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81254e45-485e-4c75-9ed3-19183b1f8846 CLINVAR:393453 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c81a31b-490d-44c4-b009-1c1a2344ee3e CLINVAR:419624 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b54ab891-9bf4-4f7c-b196-d0845f24a867 CLINVAR:419624 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0e0d48d-0320-491a-8471-736dcfc2a67d CAID:CA2573105963 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b12f0c5c-9c81-43c6-b9d7-a83532342d77 CAID:CA2573105963 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7543020-fd3a-44b3-ba8a-c57a33448697 CLINVAR:447388 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f82d9f0d-5a14-423c-84af-044757928a05 CLINVAR:447388 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61704596-b3e9-4b1e-932f-9d7f24e921c4 CLINVAR:2578359 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8904ba6c-6f48-4d4e-94d3-11a1082ee107 CLINVAR:2578359 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee96733c-21aa-4c4c-a049-a0e01d37d68e CLINVAR:1301416 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f4ed442b-ca2b-4d70-9960-c1c02a07e301 CLINVAR:1301416 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e0659ab-a3d8-45be-aec3-b92d75fa23ee CAID:CA2573051052 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bce25530-7472-4791-95ce-7623a8c78938 CAID:CA2573051052 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7dafc71-0057-4523-9cb5-8451ee1e42d2 CLINVAR:36201 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ea4a99b7-527f-4921-8eef-3af8d82fac43 CLINVAR:36201 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75a95419-ebf7-44f7-8f98-0bb89b2988c4 CAID:CA2573102980 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1e102c66-acd8-440e-a2ae-47107f5bc69f CAID:CA2573102980 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c143bb35-fb02-4f9a-871a-32f2fe611317 CLINVAR:1365679 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05ed3431-b4c7-4205-8ef1-7ec65a97042a CLINVAR:1365679 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c20ca4b5-db4d-4f07-bd5d-1a2280bbebc4 CAID:CA2017997777 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb468437-d09b-4a9f-a87c-9c1420a2dca4 CAID:CA2017997777 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 119a3663-588a-4f8f-b379-330eecad8990 CLINVAR:585915 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01961eec-3777-4691-8080-b4741901ffbe CLINVAR:585915 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 893bbc2d-62e3-4e7e-a82b-7e848ed49732 CLINVAR:1799350 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73ccf6c2-8cdf-4015-ba36-5941cc137959 CLINVAR:1799350 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4780a302-8373-43c3-916c-d931743b50b0 CLINVAR:289356 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen deab3b8c-2336-4bbb-9d9a-4723048b590e CLINVAR:289356 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43221853-dd07-4c62-8d84-075fddbccdb5 CLINVAR:286228 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0236cae1-844f-4f0e-be3b-b138ba45c91d CLINVAR:286228 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e62764e-ea30-47a6-a866-c2c52cab3fd6 CAID:CA400025655 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d19d8f6b-56b9-40d7-a4d3-d7f191fd6755 CAID:CA400025655 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a992622-ef35-4445-9d9b-99cc8abefac2 CLINVAR:2581084 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f5bf20f-9a66-443a-a565-44332978d2c0 CLINVAR:2581084 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2ec9b16-82d3-4990-b808-a5f50825fced CAID:CA367397019 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6bdd362-540c-4c93-a138-f127fd1f9f67 CAID:CA367397019 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e503b287-bdd7-4365-88d3-71d3e774c494 CAID:CA2573106066 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen abf861a8-4664-47cd-8c0b-0733e6943fe0 CAID:CA2573106066 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7557823-f2b5-4647-a231-b98011268980 CLINVAR:1769182 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00bcc2f5-372b-48ba-9493-0c0884636957 CLINVAR:1769182 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7aa5eb58-45a7-45bd-b1ea-29f70e12eee8 CAID:CA367398252 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7bdff0f5-630f-4d45-b776-23f4c8da37cb CAID:CA367398252 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac5665f3-59bb-4c9c-93d7-e4ce27ce1deb CLINVAR:995102 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b4c752a-b28a-4376-ae67-b4e01eba2a7c CLINVAR:995102 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef2f455e-8187-40c3-9b44-a0f61d72ede7 CAID:CA4239418 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1027678d-0b43-4a8c-bb08-aa4395d72284 CAID:CA4239418 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bf1fafc-e677-45ee-9748-e2cbff3fe7a8 CLINVAR:447383 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e66d312e-05d5-46a6-a03f-8e5e40181c56 CLINVAR:447383 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dbe1c5b-aff0-4cff-b353-3bb72e791ba4 CLINVAR:617652 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6ba84af9-37d3-4964-b68c-070db3fe6aa5 CLINVAR:617652 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cdbb1a4-3f49-44e0-bbf7-af3fddad1cce CAID:CA315411422 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f570b013-e59e-42df-be25-4ae50121cc75 CAID:CA315411422 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70421353-3472-498a-92fa-f9f371ba34e1 CLINVAR:1098819 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25cf823f-76ba-4df0-8a77-68fe68bafa30 CLINVAR:1098819 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4306fc68-31da-4bd3-915b-b55797249062 CLINVAR:1299752 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7f58eba5-0e33-4c45-a1f7-6a47ca48f32e CLINVAR:1299752 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bcc89a5-7ee7-4f8f-81fd-ce55685262df CAID:CA386966083 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b6c6463-b95d-49ba-84e1-f72a5cab7766 CAID:CA386966083 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e724f6a-6d4f-4929-925e-28b46f310f00 CAID:CA386966081 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f655083-9f1f-48cd-b66f-5037da3ad51a CAID:CA386966081 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc88b438-2f3d-41bf-b36e-0b24dd61efee CLINVAR:2581122 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a9e9831-08dc-4ab5-b1ac-7a2a8780d15e CLINVAR:2581122 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e2dec29-ee29-4655-93f5-b2b9337116a9 CAID:CA386959080 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b046985f-56d5-45e6-b32f-5904dfd7f794 CAID:CA386959080 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8245937-a6d6-41b4-8b97-6b632d8dbc3d CAID:CA2580610925 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 273ff9ca-a51f-423d-b80b-9965fcf9bbd4 CAID:CA2580610925 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f1061b0-d538-49a1-8163-3613bbced1ab CLINVAR:36185 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93a30386-4303-4f54-a6b0-936025e94e4f CLINVAR:36185 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d34052c-af70-411a-95b5-4bb1980a3941 CAID:CA367398753 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d373822d-9d90-4bba-9cd7-3a8552f46ad2 CAID:CA367398753 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f21c7fcc-613e-4b53-a4c7-a99c1772a12e CLINVAR:1727652 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa32f556-f106-477e-8696-00e9032a7466 CLINVAR:1727652 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31a57e01-8fbf-40c1-acec-55ec15ca20fe CLINVAR:435310 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 44bb482f-1b3b-404d-8b14-98bc7e11113e CLINVAR:435310 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e8ef900-b65c-4be2-8601-f634d0ef11aa CLINVAR:2581126 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24d8938d-8186-4d14-9c7e-4db520e5db46 CLINVAR:2581126 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61cb8a1d-a33b-4551-a0ee-04dd7da877ba CLINVAR:585927 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da8d1c94-88af-4309-b19b-302d13ed46a0 CLINVAR:585927 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3af6645-a0ba-487f-97f7-ff47a4b2c22c CLINVAR:323566 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7aff90fe-4307-4a65-b551-8939ae87ab71 CLINVAR:323566 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7399a7e8-2ba7-4fd1-91e0-93a97d3b928f CLINVAR:890600 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95ace24c-7734-4673-864c-c1f630f04d3b CLINVAR:890600 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76e967d1-4d2e-4fc7-a9a0-1338bd92e7f1 CAID:CA915940646 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cade2765-aadf-41b1-95cd-2ad3d721bfe9 CAID:CA915940646 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef380fec-d1f8-4ccb-80c5-29d98aca94b4 CLINVAR:890135 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ca0d20f-1250-410b-b59d-70083d049495 CLINVAR:890135 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfd4b666-1ef5-43aa-b2ee-4a7b6733bc9e CAID:CA399804774 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12755e66-1443-4293-8603-f5d78f1d4394 CAID:CA399804774 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db3942cc-8587-4d5e-a9f3-6d5e5cb8e524 CLINVAR:872751 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f6a7a7c2-de83-43f2-b506-2a910e779a74 CLINVAR:872751 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d24b02d-6eff-4e41-95cc-8f5e98abd371 CLINVAR:142905 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e68192dc-b53a-41dd-af8f-2cd5c9c69d5a CLINVAR:142905 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07efbe37-f88e-445a-96cd-f62a58cd2c43 CLINVAR:239915 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eef92926-723d-44d9-992b-1fe24256f281 CLINVAR:239915 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd4c3f8e-3770-4a69-bad3-e7cdfd79d8d9 CAID:CA409104369 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93c64a20-0e81-451b-84a5-044fc68cf655 CAID:CA409104369 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e90c840-fe02-40b3-9fe2-b17adab8f08e CLINVAR:427034 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a696b8a-7d25-43a0-827d-2c3a0ec3adb8 CLINVAR:427034 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e31408b-51ac-4928-bc73-c545a4e330dd CLINVAR:18019 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4bc6beea-bad3-4102-90b4-7fd8efd5a301 CLINVAR:18019 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a227b383-dad3-4ae8-bc1c-c643384c9c92 CLINVAR:627228 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37341f50-4590-4d25-ad2b-81e530481c19 CLINVAR:627228 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b24897a5-63a0-4fc5-b40a-785276ace372 CAID:CA1139771046 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0717854e-52d5-4696-9650-2d06d11325c7 CAID:CA1139771046 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad296350-d977-416e-8fc3-915fe851f529 CLINVAR:18042 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4663cea6-7d08-410d-b701-ae19d082578f CLINVAR:18042 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5efe4aa-c938-4ba0-82d7-c76ad7b87b06 CLINVAR:18014 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27e8e056-d4db-405d-8181-3b061a3028a8 CLINVAR:18014 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cffac573-b7b2-4d36-8fd6-eb90c12e8e0d CLINVAR:18034 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6de7fd1-9536-4c98-b0e0-89bcdc8223b5 CLINVAR:18034 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33af7a75-f539-49bf-b01f-0a45961190e7 CLINVAR:627161 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d683e435-2e00-4e1f-89ec-8a0e1754a36f CLINVAR:627161 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c0e2fcc-7494-4d0e-ac5f-096c8a74efbf CAID:CA343774795 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen affd3831-7a4e-44ee-8e40-5dcd1def7a61 CAID:CA343774795 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1da396fc-c726-4552-ba89-07fd46915ed0 CLINVAR:410384 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7292baba-c5cb-4d55-b81a-354b4371a46b CLINVAR:410384 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be6912a9-0846-4e9e-a555-4911aea52ee1 CAID:CA1670972946 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8dc30259-94e4-4443-99cb-32622e475bf2 CAID:CA1670972946 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0a1a7fe-6fe2-47a9-bca1-d2b25308dc21 CLINVAR:18011 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4cda3f67-fac3-426d-8d19-1bc0e1d49721 CLINVAR:18011 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60e31bed-e10e-4bb7-adb4-a994a0e53ab2 CLINVAR:447399 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4678f54f-b407-43ec-a0b9-5c87111c9036 CLINVAR:447399 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5171d385-5c94-4244-bbd7-e2e9d6a80b1d CAID:CA367401964 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8868dd1d-fa23-42a2-96c2-e61c49980cd2 CAID:CA367401964 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff5ad309-c618-4b16-b41b-fd31e798e092 CAID:CA367401896 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9603ed9d-d9c3-4bdb-85f3-57563768c276 CAID:CA367401896 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73ef8705-61b7-4d6d-beb1-6b19d58e521b CAID:CA367398808 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a3deb3c2-a354-4f2e-90ba-e5a6c930b031 CAID:CA367398808 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f548b33-5371-48e8-b75c-fcb2c2b5d58f CLINVAR:447420 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8cee15f5-df44-41bb-ab27-cb90c07276f5 CLINVAR:447420 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5660b044-13c1-4128-ad14-67b2c4cbbd42 CLINVAR:43519 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 53f89d5d-b1c6-4c65-8b1c-0854e46e7bf7 CLINVAR:43519 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8a3a722-9cce-4923-9ee7-573a92145280 CLINVAR:37404 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5360c047-cf90-4c22-b02e-85ccfd949ca8 CLINVAR:37404 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8529f0ca-a79b-4e44-89e6-93e8c7cee41e CLINVAR:17662 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b5e0605-7747-4453-8f36-11ab1d1e236a CLINVAR:17662 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a102a160-5fd0-4e3b-8252-f64c2abe24cd CLINVAR:52430 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a139bd80-80cb-4a9c-8099-35292e0309ad CLINVAR:52430 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bb3670a-a8f3-449c-8ff1-3481b1690fb7 CLINVAR:37635 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e80dc608-a312-4c57-89c2-3262624b73ca CLINVAR:37635 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cf84a9c-29fa-4c5c-9174-5c3110c2a3a0 CLINVAR:55451 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 882178dd-358c-4594-b75c-bbedf52c4044 CLINVAR:55451 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f206550-5a86-4b01-a482-d17410e87e15 CLINVAR:38132 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 35d295b8-f14a-4efc-9c4c-35a6501326a9 CLINVAR:38132 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9ebae40-0122-4dd4-9702-0e7d576575b0 CLINVAR:246362 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1409aaf-ddf3-47e1-b759-a451a62102b2 CLINVAR:246362 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c14b7ed-1827-473a-92bf-442bdb476958 CLINVAR:52475 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 944c294c-fb1e-48c9-b9b1-866c8b094d46 CLINVAR:52475 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67b59ea6-0201-43e5-b2db-607471b69eef CLINVAR:54400 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2902f951-5485-466f-9253-ed76582d4ecd CLINVAR:54400 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fdced0c-bd58-4a99-922e-b12c3140ee62 CLINVAR:54467 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c19373b-8d20-4d03-a152-8f184b975ac8 CLINVAR:54467 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dad699f-f76c-4dbf-a9dd-95ae52f8eb07 CLINVAR:267530 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ada29965-3c2b-4811-84f6-1fce6266b55d CLINVAR:267530 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf374635-994e-4d81-b74f-955a09ee1120 CLINVAR:55374 biolink:genetically_associated_with MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 609c0db2-4e4e-4735-8283-5a44ada139a4 CLINVAR:55374 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34dc8375-e93f-4d37-b812-ef70f2db483b CLINVAR:431973 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen abb36144-4341-4264-b632-410118aa3193 CLINVAR:431973 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c47b96e-15c4-4c9c-8c4c-48041097c54e CLINVAR:55392 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a78c7ca6-a46a-45ac-9f4b-050c9b6f2d11 CLINVAR:55392 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53cb701e-c307-4c93-b616-be8de965765e CLINVAR:267601 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 582aa015-9058-4783-b00a-d58ff944f214 CLINVAR:267601 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dd5451f-1ca7-4221-b633-787d6af5e691 CLINVAR:55607 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1988dbc9-b7e0-4c20-bfa2-f7ab5a9506bf CLINVAR:55607 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d181881b-794e-4bdf-9ba8-090c3c2b47dc CLINVAR:9325 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d84d7f44-8cda-41c2-b8ec-cbaec38adbb6 CLINVAR:9325 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92496e6b-11ab-4190-b00f-8f9e06cd4913 CLINVAR:219896 biolink:associated_with_increased_likelihood_of MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d3b66464-e204-4832-b22e-f344a455951d CLINVAR:219896 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f549a61-ca26-4fd0-b84f-91ae3c00f5c7 CLINVAR:52516 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6072f29-2759-4d61-afcf-f2190b0918dd CLINVAR:52516 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6c9c991-5e49-4c4e-bebb-b9cc12a1f14d CLINVAR:38215 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c355bdb4-b7df-4961-8e68-709dffd6834f CLINVAR:38215 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da049f33-a5c5-4df0-8285-4ca9216ea659 CLINVAR:126203 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc1f36d1-58b5-4839-8c9b-3b8708492fb7 CLINVAR:126203 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7d625fd-22fb-472f-9c20-7710d24e9d50 CLINVAR:38260 biolink:associated_with_increased_likelihood_of MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 82ff81bc-7633-4e88-af50-db6ae2d51798 CLINVAR:38260 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aab87c3-0fff-44ff-b1e1-2cc33ac7181c CLINVAR:52919 biolink:genetically_associated_with MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f338a117-66c7-4713-844c-588905e231f4 CLINVAR:52919 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97183c2c-bb43-4014-b318-8d032a27c73e CLINVAR:284886 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f4523bd-618c-4749-8fb1-54292a317dca CLINVAR:284886 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d03d6fa0-e006-4fc2-ba08-96b904432f04 CLINVAR:546808 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c32e78d-6caa-4bad-8fb4-3e1fd3fb0f5f CLINVAR:546808 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e41d6f5-f76a-43e1-84ed-0ad110b50aa0 CLINVAR:2664365 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dff4fd5b-81c1-4dc0-936d-dac58afb6222 CLINVAR:2664365 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f91c75d-d766-4cf2-abba-7c32789a1508 CAID:CA16020951 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cca5374d-e62b-49b7-ba61-77393d33ade2 CAID:CA16020951 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b66b657-160f-4e5e-94b8-883225947948 CLINVAR:102717 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0af2fd6-f0bd-422e-ade0-386864595715 CLINVAR:102717 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ad6e376-a981-4b8a-a76c-37d5422cf85d CAID:CA16020824 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3544a4e3-4e23-4162-8618-b0810ed3cc85 CAID:CA16020824 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db3e85cb-3770-4bc5-82f7-6160948b36e0 CLINVAR:556660 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4c4f714-f16a-4b7a-b47f-d0963c011704 CLINVAR:556660 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a062af19-b3b4-4605-a075-1c60076901e8 CAID:CA16020767 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00ec41a4-a613-46c2-a69d-72e1ca4c071c CAID:CA16020767 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a4cfcfa-929f-45ec-940a-6a0fca79e417 CLINVAR:21078 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ff19c69-8d70-422b-a0a0-f14d2c83a0a1 CLINVAR:21078 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15f3888f-872e-4eab-93a2-48bc61af2202 CAID:CA16020835 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13bb3a46-e00e-4146-9f74-8e99fa44c7bc CAID:CA16020835 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4310035-3187-455f-970d-2a3c3657bfd5 CAID:CA16020974 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a76da333-808f-475a-a682-ebd6e10525cb CAID:CA16020974 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7710d4e4-f2e2-4699-af46-eef63afc9e84 CAID:CA16020726 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a5dbb0a-469e-4d36-a808-d8273150b873 CAID:CA16020726 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e4cae0e-7763-47cc-8b2a-daa8634d1534 CAID:CA367400776 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f15b62fc-e7b9-4c15-b0d0-c948f6117773 CAID:CA367400776 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f1acbd8-a82c-4831-af2c-76da688acf10 CLINVAR:36244 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bd159302-74b4-4c92-9c3f-0379359f7264 CLINVAR:36244 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3cd0b8c-9fc4-4a08-9542-92a45caaf8aa CLINVAR:1172896 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f039b65-92a4-4a77-9c51-846fe7469891 CLINVAR:1172896 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc5cd658-62f4-4804-bfd9-bcab7145ef62 CLINVAR:102532 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4dd4aae1-edb1-4190-82c9-0cbebdbb982d CLINVAR:102532 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f14d94e9-6bce-44bb-996b-043a463ab39f CAID:CA16020918 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0460068-9162-4e39-9bc7-6a0346709d84 CAID:CA16020918 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d3f3bdc-2bf5-486f-a893-91b502f973b1 CLINVAR:102635 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 064ee184-dbe0-49ae-9c19-76e325cdcf48 CLINVAR:102635 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73270fa0-fc72-4dfe-b413-65066bd6e91a CLINVAR:495789 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 66054c14-3490-4443-b373-b72a164bb4a4 CLINVAR:495789 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0a633d3-fc37-493d-bf41-f594e12cc984 CAID:CA16020717 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24a4b2af-ae59-408e-ac38-7b4b70e1c2c7 CAID:CA16020717 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01f4de68-8357-43b9-861f-fb107bf5d62f CLINVAR:102848 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15635500-4138-4de6-aaa5-f857ef08306d CLINVAR:102848 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31f47fb6-3249-4982-9b2d-ac27f57b8b91 CLINVAR:558132 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60a4532a-bff3-4dbe-8d29-e572360b9ce0 CLINVAR:558132 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5efc392-d8f1-45b3-a8ac-e3097ad40e1c CLINVAR:102867 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51a4b50c-4746-4281-9b6f-bf3e477a7226 CLINVAR:102867 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0a8a03e-9c0e-4603-a243-94dec297e978 CLINVAR:102500 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1f9fca8-fa9d-4a7a-82f5-339803fae8d7 CLINVAR:102500 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9e1cc9a-6617-4572-a648-754bcff3a7f1 CAID:CA16020799 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21f9cc97-9879-480f-ab95-a8d5dfd5f2d0 CAID:CA16020799 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 041c110f-4725-42b0-854d-f8aa273eab41 CLINVAR:536543 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34ab09c3-ce7a-48f0-95b3-e9567b71f51b CLINVAR:536543 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11c38731-16af-4020-8f2c-bb5b9cffe95b CLINVAR:536558 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 31e1a354-5e35-4bb1-9a36-449ed4c19df2 CLINVAR:536558 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68a4209b-f0d9-4182-b13e-6e685a416885 CAID:CA8603504 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3da67025-8ba4-4ba9-80b5-438bd0bdcc32 CAID:CA8603504 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91f4ed52-76f7-40ea-821b-b3cfcfd3c281 CLINVAR:1687232 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b08156dd-4484-4b70-be47-0bd105bbd5c8 CLINVAR:1687232 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d71578c-2d67-4f09-ba44-27bc8fe651d5 CLINVAR:2674649 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 790e932a-ce7a-4ad3-886c-24ea8c66e62e CLINVAR:2674649 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aba14965-cbcd-4c38-8e6a-22e9b4bb5bca CLINVAR:888826 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8505272c-e869-4ee5-bef5-30fae204e09b CLINVAR:888826 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 390e61f2-f6f9-4ff2-8a83-e8976aa34aa9 CAID:CA913184731 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f789d47-a88e-4da6-abd5-a34b87122b50 CAID:CA913184731 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7aa9315c-18b2-4efe-af96-d86fa3144a8f CLINVAR:888825 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46afd851-857d-46c2-bf33-72771ff0af1e CLINVAR:888825 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a63c3a39-6ea9-42b1-8696-9f07e9d90295 CLINVAR:888824 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 150701b2-03bf-4a03-87c0-6fd0b042d2b0 CLINVAR:888824 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63a297d3-9d45-4bd4-a9bf-87e31de65612 CLINVAR:428195 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9063e31-26b1-490b-b0c2-e72a56468ebe CLINVAR:428195 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53c49d20-85dd-46f9-aadf-96ed5d7b1389 CLINVAR:1334551 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c84c27ad-88b9-4336-8005-b8cbd1638e35 CLINVAR:1334551 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd25c538-66fc-4e3c-8807-7a0bf9293758 CLINVAR:189400 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ca6583d-0d0f-43c9-b0e1-19a54a171922 CLINVAR:189400 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49aee318-269d-4d41-8df5-e59a5480c7a7 CLINVAR:486972 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b272f6e7-3131-4c2a-983f-460d5d1ff4a8 CLINVAR:486972 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5df70624-2436-4a57-b21a-af5958a95ca8 CLINVAR:818421 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c091bc5-7aab-4521-a096-cde9e1368b9a CLINVAR:818421 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39e2bc76-5700-4d80-8f1d-3a334cb166eb CLINVAR:184277 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b1b092e-c764-498e-bdae-63a5356adfba CLINVAR:184277 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2384e8c-46a7-4322-aa52-484568c56d33 CLINVAR:1704153 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3852d185-7b36-4648-8ea9-3b0e2ba9acb6 CLINVAR:1704153 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1d80b92-cfd1-4b11-b745-f141a1fbb5f1 CLINVAR:1320976 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 139ed8bc-abe6-4fe1-8c7e-847e9617ae9e CLINVAR:1320976 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4601403d-edc0-43cd-b734-3ac08aa614c7 CLINVAR:427589 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1029786-5ad3-443f-87fa-5e86456e4afa CLINVAR:427589 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff8fe0cc-ddee-491a-99e5-67d65c2c20ef CLINVAR:428243 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c02f69bd-a7f5-4ea2-8b36-bc807dfe367a CLINVAR:428243 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0042297b-38c3-48fb-a487-b389f3e285dc CLINVAR:280724 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f24c992-d6be-4931-9bf4-a802e56908ec CLINVAR:280724 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fe9b5e2-2c2f-46c5-b727-20d7989da28c CLINVAR:943637 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c1605603-ed75-4f78-a568-ce1753b38cd8 CLINVAR:943637 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 748fa4f9-5dcc-4b24-99cb-f29bb368d9d4 CLINVAR:428266 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 209932ba-6a89-4d1c-909a-001d63b162c6 CLINVAR:428266 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cbf3896-6219-4cba-857c-32e1c2352469 CLINVAR:233456 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d5c0aa3d-cd4a-469a-aa5e-c8aba1b7281d CLINVAR:233456 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd7218d7-1d66-4183-8bef-41f9e1b41733 CLINVAR:393451 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 538d4a8e-07db-494b-8542-6a309db09db2 CLINVAR:393451 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79cbde69-0063-4f2b-a14e-1967de9a89db CLINVAR:435311 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4b954068-9674-410e-9f8a-92ee4a46ecd2 CLINVAR:435311 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ec20f21-43d6-44c5-b985-dabc513a5abe CAID:CA16020760 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b340a5f2-73f7-4405-95e3-6dadaa7e7785 CAID:CA16020760 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de2c7be3-44bd-409d-8b7b-8ece8619439f CLINVAR:211073 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3180aa88-1657-416f-ab16-83f659ca15c6 CLINVAR:211073 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83794be0-0836-4e8b-ada6-f083d295a5c5 CLINVAR:555864 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 30680845-ac55-45aa-8bec-41899ae74cf8 CLINVAR:555864 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 401cfe76-263c-492a-b5bf-c4b6da932076 CLINVAR:4024 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 520af111-9663-4b00-9245-f2bdac81a9c1 CLINVAR:4024 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f3d4414-b924-4ec5-b51f-4b16946b5840 CLINVAR:290225 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4548f0ff-8439-4211-b939-232a54fc9126 CLINVAR:290225 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47eb1180-e49c-4a5f-81e7-b398c876b1b4 CLINVAR:189007 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 750517fb-78e8-491b-a41f-eb2d0ceedb14 CLINVAR:189007 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a34b1ab-1a3f-4678-be2f-54e1dba6c7d7 CLINVAR:285366 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff1cdf84-48d8-45a7-8b03-1253d1fbc069 CLINVAR:285366 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 624b381e-3b5b-4e3b-a7cf-8bc95e4dba60 CAID:CA915940648 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab2bf71a-ada1-422e-b9ab-c18a4db276c4 CAID:CA915940648 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc202415-5877-4137-9465-7259e6752713 CLINVAR:323546 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72b64cae-ca2c-4142-bd8e-fe6fa438fef9 CLINVAR:323546 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e162d8cf-1121-4351-be6c-17393fe7d9cc CLINVAR:995104 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bd2339bc-7451-4098-9ecb-a96ea99a0582 CLINVAR:995104 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99656faf-6e41-4ea8-b279-12a1fccfbdc0 CLINVAR:995103 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60726f4d-1f4b-4eb8-926b-302042232299 CLINVAR:995103 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee989ff0-c859-4b4d-8570-5104e78c16c3 CAID:CA2573106065 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3cbb3d9a-158c-4ab6-a9f7-0e623d9123e5 CAID:CA2573106065 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17bb0b49-ec57-41ea-9cbc-f38e72d6463e CAID:CA1139771343 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5cb6c9c1-c9b6-4941-b87d-d7531544a472 CAID:CA1139771343 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca5c37ae-6c56-4377-ac66-1fcb2a344dbd CAID:CA367397333 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f263abaf-9816-4086-a0dd-3076631dbd19 CAID:CA367397333 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f476b166-0eb0-426a-8922-8ca99f1906b0 CLINVAR:447380 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77ecb749-6355-402b-a0e6-f2179d15c6b0 CLINVAR:447380 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a89ae115-7aad-4450-ac2f-4574bfe57a73 CLINVAR:370043 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdcceca3-f6a1-45f9-ad69-9336487c8c2a CLINVAR:370043 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09350060-c3ac-4f20-8fe7-a6219a3eee29 CLINVAR:9717 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99b3b115-f94c-4a6a-9625-96a4bbe484af CLINVAR:9717 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95ede4b6-1622-4fda-a6f2-b3a7c84da6bc CLINVAR:1026606 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a5e22f5-3c04-4dd4-87a0-3447aa12d0dc CLINVAR:1026606 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c848a6e3-7dab-4993-8339-652be307949a CLINVAR:339811 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bcea693b-fb0c-457a-b08e-9d42c362ec73 CLINVAR:339811 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18b36f7d-fec3-4a94-9246-13f041271809 CLINVAR:658195 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa70a30e-9696-4055-9a82-4079d20d65a5 CLINVAR:658195 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54e431c9-b740-445a-9f25-7b0b1cabcfc9 CLINVAR:409809 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87f2a605-4100-4bb0-bd14-1db665e4c044 CLINVAR:409809 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4ca7ee5-5ef5-4d3b-8298-19b4bff307e2 CLINVAR:1118048 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a779af0e-d58a-45ce-a7dd-4fdd347d1719 CLINVAR:1118048 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4fe3d24-db5f-4961-9153-f4a5fed7cc08 CLINVAR:961001 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ef342dd-5b14-44f9-9012-71218a9f3f5c CLINVAR:961001 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ba58d36-e8ce-4dcd-8071-418a2cd2e610 CLINVAR:463993 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d06ad7d-700b-41d1-b37f-f607d6cbb86f CLINVAR:463993 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec1f4be7-77b3-42f7-bdb1-d5bd7a59e6b7 CLINVAR:464013 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0250e1c5-4340-48b9-b242-214f349790c2 CLINVAR:464013 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b566ee0-89cf-443a-ad38-9c5225d8aafd CLINVAR:532665 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09739fc6-ddeb-436e-b7a5-d8f1ea1c6a41 CLINVAR:532665 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06fdfb06-7c01-4b27-82de-30e14dafd0ee CLINVAR:843240 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9c0bf29-6010-4d94-8fae-60dddf5ea0ec CLINVAR:843240 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33f70195-160c-4a7c-a98f-f6010e23c6f8 CLINVAR:858424 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51a588f4-465a-44a9-98c4-750eb7c3e926 CLINVAR:858424 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b830bec-edb4-4a8b-a9c7-9907350fdcb4 CLINVAR:896170 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd95ea53-6999-409b-bc46-dca2c53f794a CLINVAR:896170 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f805394-a540-4da3-b802-f5c8428b15f2 CLINVAR:937756 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ebdaa0d9-3015-4037-9a9c-163d965717da CLINVAR:937756 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 266d173c-3497-47e3-b763-b521341b0a64 CLINVAR:946753 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f000e268-96fe-465f-8beb-623fbc0594aa CLINVAR:946753 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b9a3a73-c2cd-4053-bfcf-071c71f2e560 CLINVAR:948058 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ecbaaaf4-c7c6-47da-824c-f0f18d528104 CLINVAR:948058 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e7278f5-450c-404f-b5d8-7b1a486bbe20 CLINVAR:956926 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4418922d-197e-48a5-bf26-fc22e023a49d CLINVAR:956926 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a040dc8-90b3-4991-8849-6e42c2e1c7e0 CLINVAR:961354 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0dca09f-aabf-4739-a916-88bafad342fa CLINVAR:961354 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a837109-2e5b-4b9b-8801-eb3baaad5688 CLINVAR:966436 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad23f522-c9ee-43c4-905e-cd2016f9322c CLINVAR:966436 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a46f2160-0d3d-49fa-9d59-ae75a42ca6ea CLINVAR:1002421 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56f12535-ba94-4ef4-8008-f4c0f01f91fa CLINVAR:1002421 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0931892-ac94-471b-883d-0d42081c5f57 CLINVAR:1010850 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50cba419-a268-49e8-8242-edac108c16aa CLINVAR:1010850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c90daf6-4f8c-408d-89ba-d66cc89e0ab5 CLINVAR:1021717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be02dacf-13c9-482e-b3b4-eefe5a70e41e CLINVAR:1021717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 198a3cb6-03bf-466a-809b-110a2ebbcb7e CLINVAR:1378669 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1bf20835-701b-4958-94c0-5cc1c0035eb6 CLINVAR:1378669 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56575941-903b-42df-bfca-c56525f09a9d CLINVAR:1439341 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa0fa724-a8c7-407f-860e-b1d7e1b84100 CLINVAR:1439341 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c3a8d19-e51e-41d2-beed-6f61f7f0783b CLINVAR:1465820 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63ef2aa2-4972-4d98-9966-4dacb66b7d6e CLINVAR:1465820 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc53f715-aa11-4e18-b845-d21daf9dcbee CLINVAR:1704949 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87d1ff9d-db99-43d8-ac16-88e510fc03e8 CLINVAR:1704949 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2af57769-7f3f-490c-9ad4-89d32ad8b53f CLINVAR:1721570 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19b6d128-e532-4457-90a6-d6b8dc183f28 CLINVAR:1721570 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ac8f8f0-f343-4a69-97d4-761ea33d0006 CLINVAR:2001260 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71bdb6f1-1a46-478f-b5b1-9c5650b9144a CLINVAR:2001260 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5526b8be-20c6-44f5-ad75-e182966aa88a CLINVAR:2060834 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f66aca3-1a46-44a8-a19c-2ee8a73e9381 CLINVAR:2060834 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb373d39-d7cf-46b6-94fb-abb28119701b CLINVAR:2061265 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ef3efb7-9dc1-4638-9b37-6dd36c0f3123 CLINVAR:2061265 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 299b4d28-cfda-4b74-8989-e6926a32be67 CLINVAR:2073628 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 860d0c67-49ee-47b9-989d-1cb4a8d7070e CLINVAR:2073628 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 786d07aa-0b87-4455-a987-b7f27d040162 CLINVAR:2418762 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81927b6e-1c80-471d-87b1-c1a250417070 CLINVAR:2418762 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ef7485f-7328-46a9-88b3-5b29ff6adec0 CLINVAR:2422003 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3a37ca5-f143-4c1d-a4bd-eafa3e465530 CLINVAR:2422003 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f481ac05-226b-4e57-96e2-f56c085dc36b CLINVAR:1068986 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e3516082-a96e-437b-9cda-938731b8c90d CLINVAR:1068986 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa96b46e-0205-4742-97ef-0e8b93ed85a9 CAID:CA367403551 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7330e17e-8756-4f9a-823c-6caeb0211616 CAID:CA367403551 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24950410-a398-4d3c-bfc7-c26ff1f48a56 CAID:CA367402684 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d22d6ab-a319-4390-8a82-e7d9b6a636ff CAID:CA367402684 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 119ee919-26ca-4120-8425-e3a0eb436d6a CAID:CA4239602 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51ec6515-a59b-4f0b-935b-f98e40ddc73f CAID:CA4239602 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e199970-0203-46a1-8371-2f0f71dc76f3 CAID:CA367398804 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29424eaf-8571-45d1-8fb6-26293b7a9e59 CAID:CA367398804 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25d29bba-f81d-4277-ab83-e7efaa0da998 CAID:CA367402580 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a19bd67-5a1b-4000-8f3b-1ad3565f740f CAID:CA367402580 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ad02d75-7bbf-4e19-81dc-38963d8a57e6 CLINVAR:2581305 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7797c7ed-70e4-490f-a7bc-e64576f4710e CLINVAR:2581305 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40a4aa3e-8a96-43bf-a2d9-bbbca79ad87a CLINVAR:1709730 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 009044a7-a7d0-4a65-97a1-063edb0673d5 CLINVAR:1709730 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b73b490c-c745-419a-9287-eb6d7ba294c4 CAID:CA367396980 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5acd81d3-b845-42c0-b516-c088f0172734 CAID:CA367396980 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85f90896-5297-4566-9440-f1e52b6ec856 CLINVAR:432386 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34ddce4c-fd6c-464f-8c66-55c477bd9985 CLINVAR:432386 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 606110c1-6efd-4269-a5b5-a07169ee336c CLINVAR:994613 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b860693c-75f0-4a03-bf30-92dbdf696e77 CLINVAR:994613 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afdce79c-002a-44ef-b541-4adb324168ee CAID:CA367399681 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b9a6ad06-f52f-4069-9176-1a23861983dc CAID:CA367399681 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7720991-2101-4691-a01b-d0ed3b0b58db CAID:CA367399678 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee8268ec-f58a-4b09-94ad-47221d44a735 CAID:CA367399678 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9940d093-1322-4941-aa78-503fcb084f14 CAID:CA913189165 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f62cc16-56a4-4e2f-bd18-58f73bc6fba3 CAID:CA913189165 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f5ac553-04e6-4c67-826f-73633d61ec54 CAID:CA2580617739 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f45f04e-e4f1-47c4-85d1-ebc211449b3b CAID:CA2580617739 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e0d77a2-2cad-4d23-b735-7a54da4bfd5b CLINVAR:36239 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 181c74d9-dffc-43c7-816c-711f33a6d9f5 CLINVAR:36239 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46129481-3a18-4f82-a6c1-fabc7db615bd CLINVAR:36233 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6cd0689a-b249-4460-9d5e-d8af161feec4 CLINVAR:36233 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df95fb41-d392-4ad2-8641-78e47fbeba6a CLINVAR:1490297 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b712d33-4746-4aed-9a03-479c30d19db1 CLINVAR:1490297 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e626c7a-aba3-49cd-a376-9dccd73e4b7d CLINVAR:995372 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a4f3b9ad-dcb7-477e-9f91-857e441a1397 CLINVAR:995372 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b34466d-d4ba-4262-a177-7672b9f1ba13 CLINVAR:804856 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef2e41d7-2c7a-4990-9d0e-196a1165b684 CLINVAR:804856 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab4904bc-3d72-4318-9291-9997e6c29da7 CAID:CA367401545 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2439abfb-a714-4485-b51e-4219260082f9 CAID:CA367401545 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50a556bb-d30d-4f22-9356-1a304d5caf5b CLINVAR:198397 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 52a4469a-e739-450f-97a6-8dd1cd986524 CLINVAR:198397 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 092648c8-1a24-4b70-baa1-bb16d1881fe1 CLINVAR:9212 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 20a11795-9f66-42e5-a48a-c5e3a992f75b CLINVAR:9212 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0da3145-6c0a-45a0-9bf3-bb85c4f42cd2 CLINVAR:36190 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c377f61-1ffb-4c84-a74e-e50eb51242ac CLINVAR:36190 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8857c5e-be1a-4a17-8300-5105cb801f17 CLINVAR:1496579 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc0f411c-3f84-4127-b7e1-1d1c65a939de CLINVAR:1496579 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01b04a6d-8a67-41e3-ba44-c1372fa59f73 CAID:CA367399833 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d236b5ef-db6f-48bd-bf76-de11fe41cbae CAID:CA367399833 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c70e211c-5d4a-40a6-a881-2e1fd771b821 CLINVAR:846588 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ea2db9e0-b2e4-4e21-8fb2-1c73947ef18a CLINVAR:846588 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e44af92-1242-44af-b410-6849ce12c7d0 CLINVAR:1338446 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d62d1a0-75bd-4ff3-bb1a-52869d9b2c5a CLINVAR:1338446 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b022cb6e-c2d0-4f9f-afd5-0cfa386d428b CLINVAR:1746441 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 545bb130-d153-4451-9319-85006004a7a0 CLINVAR:1746441 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f54f710-199b-430d-80b2-34d39723b5f7 CAID:CA367400539 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e4ce58b-8b90-4bce-9bf2-036971275e54 CAID:CA367400539 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ec4157b-b69a-4401-897a-20a38fdb28d1 CAID:CA367400540 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c674490-a0ba-4456-b2f5-7af27a5cc607 CAID:CA367400540 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62d19f50-285d-4433-a4f3-0901d817eb31 CLINVAR:995101 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0159132-7c53-4a78-8bf2-e6f0f3d9ee2c CLINVAR:995101 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b5c8d78-9179-455a-89a1-e5157f2705d4 CLINVAR:2664355 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a973636-dbf5-4938-a107-b26063be19a4 CLINVAR:2664355 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 141359f2-cd39-47e5-ab80-e1afea562268 CLINVAR:2664356 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 634e486a-ddc4-4a0a-b87b-113b4e794c32 CLINVAR:2664356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 370e9914-7301-4549-8179-32c108ae854d CLINVAR:456370 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b34df88f-3918-4d7b-a9e8-11619742a389 CLINVAR:456370 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da357abb-c7d0-48e1-a811-8c14222f8af1 CLINVAR:632823 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69eb3265-37a1-49e2-8838-07d26b9f661d CLINVAR:632823 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5daf51a3-2e7f-43b5-bb6c-2c56fca1fa32 CLINVAR:289367 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bae43c21-3710-423e-bd9d-ba4892eea35d CLINVAR:289367 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59c3423f-4250-4020-aa85-2bba899dcbb2 CLINVAR:2151633 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2095da29-6621-4dff-83f8-2f183955489a CLINVAR:2151633 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd54387b-4650-4588-9d5f-3627732e6179 CLINVAR:555820 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b9b7e5c7-c5ee-46d0-b558-39f6dc58c2e6 CLINVAR:555820 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57c6acd8-05a8-4717-9cee-7cc876e94a0c CLINVAR:371622 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 395d5cef-fd21-441b-bdc2-95a8f380292b CLINVAR:371622 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 859810e4-0c37-4730-9efc-1f8107b9aaa1 CAID:CA367401747 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b553490-8cba-4568-a29b-b96e745f5e21 CAID:CA367401747 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7208720-445f-464e-9060-b14f60bf1a38 CLINVAR:585921 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc638e76-bb14-414a-ba70-97f4209a0e77 CLINVAR:585921 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e106d63-da3f-4bba-b8c5-9a5c0004d225 CAID:CA367401907 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bacb20f1-32d4-4ea2-b105-a7da3a2d38c7 CAID:CA367401907 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 603b246a-f3ea-4851-b0ac-69d64144eb0d CLINVAR:585917 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5076956f-a670-4122-816e-d18b92d5fdac CLINVAR:585917 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a17c852-9cf2-457e-8728-e608c391abd0 CAID:CA367403544 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e6fac8e-e318-40f4-8a59-11e2b6faad97 CAID:CA367403544 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd8614bc-992a-4271-8597-df663ce3d362 CAID:CA367358349 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a49cddf-fa71-405e-86d3-2425b21a6c04 CAID:CA367358349 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6751b71-3e82-4070-9453-9bfe06b5edd1 CLINVAR:561231 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40ee7c40-e5ff-4488-9d15-73f8583e0623 CLINVAR:561231 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen feb2b249-bf96-4306-87c6-84d3cad0d85e CLINVAR:1684431 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f2e3a65-eb13-46f9-a52d-658306314198 CLINVAR:1684431 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 827a06eb-6d7f-427a-831c-c524d540a37d CLINVAR:1706546 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60cd8469-3bd2-49f0-a1f2-61e6adae5f35 CLINVAR:1706546 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aca5255-c466-4c3f-94c7-640a7f0e9a17 CLINVAR:1073884 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 775669cd-81ad-42d9-99e7-55573f5d895c CLINVAR:1073884 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8818dd82-d14f-4e0d-adf8-d3cb15680330 CLINVAR:945290 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 349bea12-f4b4-45ab-b4eb-4f590cdf7a69 CLINVAR:945290 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef24c9fa-cd07-4137-8b4f-c4d770a35afd CLINVAR:988837 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8aed029-ea6f-4a37-9da9-421b132d8d73 CLINVAR:988837 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c71b7eb-546f-4b7b-b943-68866d6941e3 CLINVAR:1074523 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21d0fac9-9bbe-4bc5-96be-f17681272657 CLINVAR:1074523 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8708e0a-d408-41bf-ae6c-552d5fadde27 CLINVAR:2123057 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e255c233-21da-40eb-8ca8-c6280a1a18f7 CLINVAR:2123057 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f1fd609-a37f-4be3-98bb-4f4ac52f3c35 CLINVAR:647118 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2115d7a-89dc-49ac-80d5-f0145016131e CLINVAR:647118 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f99e9dce-9303-421b-bff6-9ce4379312e9 CLINVAR:1684407 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen afe3134e-7636-4a0e-8e70-85f7e7137245 CLINVAR:1684407 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8c97310-d7a4-44b3-b2bd-045507f6853f CLINVAR:1691247 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1f0cf09-d7b4-4db2-81b2-2359dacd770b CLINVAR:1691247 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35d6431a-f842-453b-8180-ae78a0604a6b CLINVAR:1691248 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10fb03cc-1959-4f65-9b29-1af4762ac932 CLINVAR:1691248 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd8a2a52-65b5-48a8-b576-bf428cda16ab CLINVAR:978818 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c20778ae-d5b9-4e9b-8bac-261edc54c2eb CLINVAR:978818 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80b05293-a243-40b2-b7e5-1df0c89a5790 CLINVAR:988416 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5697c13e-a384-4509-a38f-6334a4740626 CLINVAR:988416 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fab82a6b-ed85-4477-b129-c48662e8b2d9 CLINVAR:1013619 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0df0ad6f-628a-4bc5-bd0f-1133bc3e42e4 CLINVAR:1013619 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39ef8d28-b797-44d8-9f6c-8222db5f85b0 CLINVAR:1071785 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd5df1e7-1e44-4a58-976f-9624465c2b4d CLINVAR:1071785 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a5a7577-0f06-4709-b31d-64ed86a9e670 CLINVAR:1692643 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5b25336-0932-4d31-8a1d-d4460fcfa356 CLINVAR:1692643 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 522a58ac-f8a0-4f6d-8083-fdee90e15e40 CLINVAR:417476 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9094cb58-d3b5-40e8-a31d-8503faf40dd9 CLINVAR:417476 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdcf6428-3afa-4ef2-9173-8407a1c5af13 CLINVAR:1460018 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22fb5aba-17ea-4b81-9413-d40def76f529 CLINVAR:1460018 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18d0ece2-e3ac-417f-9910-c07f56a43e3e CLINVAR:832666 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5189fe6-eeb5-47b2-a146-f4472145bc28 CLINVAR:832666 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51868236-7aab-499d-ada5-9c493057d389 CLINVAR:1073907 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7bbfd524-17ec-4e8f-b42c-f19c42072461 CLINVAR:1073907 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33312db8-59d8-4f16-ac04-4c4f9bf4723c CLINVAR:833071 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ecba3a3e-b7d9-40b7-9069-30b4d7802bff CLINVAR:833071 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d1c55ab-39fe-480c-8c31-7ce5c304e533 CLINVAR:871175 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0951df02-4836-47d9-9f00-0a769c23d423 CLINVAR:871175 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3d39ac2-a1d5-4d01-80df-18c1d9820d43 CLINVAR:1065583 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 990763c8-18b6-4450-8b28-6a733fe2a213 CLINVAR:1065583 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87966c04-bd51-4d64-9684-b5b6be5553ac CLINVAR:389962 biolink:associated_with_increased_likelihood_of MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen deeaea49-efa9-4b5e-a981-edc7b2405c23 CLINVAR:389962 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 704915d6-5701-4e4b-9577-2f3522a33952 CLINVAR:1518631 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6930526c-9a5e-4ffb-abc8-7305b64d58ab CLINVAR:1518631 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51f91d2a-3fa0-451d-8c5c-233ee4e0c5ab CLINVAR:988808 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa50790a-48b6-45e2-999b-5f849a4c3045 CLINVAR:988808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a27fba3-97a9-460b-8463-518d520a0374 CLINVAR:561250 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b64f0872-d598-4b27-9195-f50d9cc054e8 CLINVAR:561250 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b225d9cb-a004-4893-ae62-b3b5f44b2642 CLINVAR:2665098 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a04ab79a-03ec-44a0-86f5-0cee790c1b0d CLINVAR:2665098 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4f3c13c-ad3d-460d-8fcd-0cf0bf82a82a CLINVAR:561251 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 57173ca3-6ee1-4d7c-91e0-933c938388a7 CLINVAR:561251 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d617341f-b94f-422d-b322-9c98097f5a84 CAID:CA2573320718 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cee01d55-179c-4b97-8cf5-dbdc1bcb64a4 CAID:CA2573320718 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa8a5421-8e62-446c-8e30-9bd2487455a3 CLINVAR:2011850 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5cadb247-ad3a-4b19-9ad6-584472af2fd9 CLINVAR:2011850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f46ee9b3-147f-4916-8f58-58af9bb14b6c CLINVAR:2003897 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d50fcc7f-8491-4c22-bd75-19ad315dacd4 CLINVAR:2003897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c371d3f-7309-4f81-a7d1-8de78ad50dc1 CLINVAR:2014537 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c1ea763-6399-49d8-846d-bc2b20108261 CLINVAR:2014537 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64295a16-bbc8-4bb7-9a90-340f0666797c CLINVAR:2504110 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ab0ad36-183d-45ef-816c-a205305135aa CLINVAR:2504110 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30fe4c14-50bf-46c2-b8a4-8543f5688a66 CLINVAR:561234 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1840c1cf-5a98-43fb-a652-4bc091eaa553 CLINVAR:561234 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99d4c4f4-9899-40a3-8d2a-3e0202e13408 CLINVAR:1338536 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 79e615f0-8fe3-415c-953c-fdc46029ee4b CLINVAR:1338536 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0af36c84-f800-4e82-a871-9e0ddefaba6a CLINVAR:2129871 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 36dee2d3-7451-446e-ac74-42de7316e761 CLINVAR:2129871 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16b3574f-dde9-47ea-b38f-d7f30d03764c CLINVAR:836448 biolink:associated_with_increased_likelihood_of MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d86dab9-8745-42a9-9a07-3e7625509e8a CLINVAR:836448 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dce6ce24-ed66-4ca6-af67-976fa2a68722 CLINVAR:1996223 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 75d21510-737f-493a-9403-f5ea84e2607f CLINVAR:1996223 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0008d6a0-9147-4af0-b54b-f60166fa8ad2 CLINVAR:2177591 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c627fe0-7b16-4ed1-866d-f22fb90169d0 CLINVAR:2177591 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 745251a5-6d1a-40bf-8ecf-30ec8fcd01a5 CLINVAR:1703793 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5cb12fcb-0c4c-4432-9261-ab9c35ce3619 CLINVAR:1703793 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e84dbcc4-23db-4aa1-a1da-6be2c5fc8718 CLINVAR:1349747 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c5c2c51-19c1-47f8-a319-02ac1e199a82 CLINVAR:1349747 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 926f7d77-6d55-4d42-ae29-f09b9a21aa3e CLINVAR:812913 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 424e8703-a733-4075-8454-4a1676f9b55b CLINVAR:812913 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ec9179e-cea8-4699-94cd-5f74f1f3698a CLINVAR:1067688 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 833e92a3-f5a3-4a47-b986-5295683e9f95 CLINVAR:1067688 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4527bfe8-8b26-4598-a58d-6998715a2000 CLINVAR:627152 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c7c81e4d-5eab-4f78-8fc1-69b0a62369d6 CLINVAR:627152 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eef48231-64d6-4b8c-87e3-27acf2313da7 CLINVAR:1074352 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf168b26-46c5-4171-bf66-9db471cd9c71 CLINVAR:1074352 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 798e4410-af4c-4804-ad98-88a78f25b067 CLINVAR:1013200 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 944b3098-9c3a-4ccd-a1d6-8f67f9d3c44f CLINVAR:1013200 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57ce4d80-e566-46b1-86cb-90e8ceb3d3fc CLINVAR:640550 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1d090c5-1e19-4a7f-b94c-2cbea806f7c3 CLINVAR:640550 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b7febc4-7fb5-499a-9f48-8cc9bf7b5d4e CLINVAR:189402 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b2c05515-8ad0-4649-bee5-02e13ed9073b CLINVAR:189402 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1181189-a812-4911-a22c-2343922cc9cf CLINVAR:373446 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 104b0a82-5a70-4bb8-bf05-359b54d3e9c2 CLINVAR:373446 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05001d7a-f283-4fa5-946e-8e0a28b53ee1 CAID:CA367402681 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8bf231f0-d62f-4fa3-9dfd-37ab3ed305f2 CAID:CA367402681 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96ce1ebf-b787-463e-884e-082f1b936492 CLINVAR:585918 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9628e777-1a03-4f1a-92c8-bf6be7d2fb2f CLINVAR:585918 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d740ce9d-aa74-488f-b1a6-0d008c86edcd CAID:CA1703634895 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f1235c0-a5cb-431a-99a0-2e263eeb041c CAID:CA1703634895 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e85165e3-f995-432d-8185-56db4c44863a CAID:CA16621927 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30bc070b-a586-4a49-83ae-b11e11b7e49f CAID:CA16621927 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb0188ea-5955-46e9-b083-ec278765d673 CLINVAR:280031 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d072692-7632-4769-94c6-092dfb0f0022 CLINVAR:280031 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3599507-ea2f-4899-b071-a0e781fbb00c CLINVAR:2073656 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b23b0d37-fc67-4e6e-8995-4fdce8c5b11b CLINVAR:2073656 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b84a8740-5326-4be6-839c-df4a8c8e2b22 CLINVAR:450754 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07417d86-11a0-4e2d-93b0-1bea94673530 CLINVAR:450754 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58ca21be-4eeb-42b8-b2ea-53d0643f49c8 CLINVAR:890134 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16e25283-7d4f-48b5-b94b-06a3040f7dba CLINVAR:890134 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53f18465-30b4-4c11-b662-d07c0ef537fc CLINVAR:1684324 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab87cf08-a8d5-4ee4-8d8f-2c371c0817dd CLINVAR:1684324 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c4c3ed6-6faf-4a9e-9d42-8793feb8ec15 CLINVAR:1048589 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a3ed04e-5f88-43b3-bffe-80278ec450ff CLINVAR:1048589 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c1fd7ad-bf0a-4c29-aca8-c487a4c42d6b CLINVAR:1348299 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 661bd7ed-18c3-412e-84fc-ca489aea6424 CLINVAR:1348299 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f80314e-ab5f-4c10-9837-304a86169a21 CLINVAR:456402 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8535d84-3d24-4447-95ab-07847abf1a1e CLINVAR:456402 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f963c16-c47d-486f-b277-3674d2996f71 CLINVAR:593593 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2cf5992-7f57-4e5e-8dba-c395e8e9b3ff CLINVAR:593593 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bdb5aa0-5afb-4e0d-a819-40a898890ad8 CLINVAR:664582 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen abc6a6a9-b2ef-4f55-a303-2f57605ce725 CLINVAR:664582 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed99bfc6-132c-4131-9b04-8ce11ad3e053 CLINVAR:285589 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ca7d2a3-b25f-4c28-9ab3-0abbd606328b CLINVAR:285589 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afe716d7-3b85-4c7a-b5db-cc8df66f927a CLINVAR:510585 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24cb92b8-cd07-4b80-b6d3-f828e203177f CLINVAR:510585 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2a877c4-5061-4175-afe5-1825bcd76331 CLINVAR:447518 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92f1d12d-e424-4e54-927f-7904f005d19a CLINVAR:447518 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4adc9fd-d03e-44b4-bdba-58d4a2bb9a79 CLINVAR:972785 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9be998b7-d966-424b-a4cb-e7e80ad60b6e CLINVAR:972785 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20b4cc47-56ae-4ea6-9699-5924f01af800 CLINVAR:586019 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fafaf64a-db9c-43f0-a742-a4e71388044d CLINVAR:586019 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a89cf136-997d-4be9-bc7c-e04b19719d5e CLINVAR:133249 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 675e5e25-b772-4fe6-a295-b6c1bba6ae1c CLINVAR:133249 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2454321-d8cf-4bb6-9de2-e52d039ae1c8 CLINVAR:102688 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1fc1b3eb-b9e1-4e80-b6e2-eaa765dd56ea CLINVAR:102688 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab67fb65-de1e-4a3a-84d7-35482576e993 CLINVAR:188933 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb5da74b-ae3b-4d57-aec9-9b8a613289a3 CLINVAR:188933 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a01b25b8-1de2-4eb4-9523-0487afa4fe6d CAID:CA16020772 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f2ed7a5-ba7b-4a8f-b8a3-264df951344c CAID:CA16020772 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99ee104c-95d3-48d4-8eea-5616437b8232 CLINVAR:102639 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a273bc5-adaf-4230-833f-c5870a7c872e CLINVAR:102639 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8c079a2-914a-48aa-8b18-2cc8dbae0db0 CAID:CA16020833 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd71a391-dabf-4354-9d62-9ec44f5c4e18 CAID:CA16020833 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a1fbfda-93c5-4a2c-b656-cd0525e269c7 CAID:CA10602335 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6fed8c8-3824-44a6-a651-db9216202a6d CAID:CA10602335 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a50290d8-ea09-4a7e-ba23-6880f89aed0a CLINVAR:1458264 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03e13617-51f3-4049-a67b-8713a4e0eb7e CLINVAR:1458264 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91e860dd-8683-479a-a3ca-467ffe65bce8 CLINVAR:102899 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21633e42-0ff2-4c75-8c62-b381fb0487c3 CLINVAR:102899 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24738564-d941-4d55-a102-590003c5e005 CLINVAR:102896 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9578e077-a4b2-4f76-8200-c91c88442a7c CLINVAR:102896 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 538cee3b-01de-4e2d-b807-ef60c55dc05d CLINVAR:102586 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e144b8dd-b5a1-42d9-8241-4c7c83679a96 CLINVAR:102586 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a078472a-9306-454f-b7b4-cd866a119cc4 CLINVAR:102907 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8068ceea-aca9-4085-8640-a2b42aae9bdd CLINVAR:102907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9621aa09-e7b8-43d9-b583-924de2dd7ddd CLINVAR:102904 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f2b071d-1d5e-412c-b124-ea9198933f61 CLINVAR:102904 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41abf1f3-bf35-4350-ad13-466d763f68bb CLINVAR:102912 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e607bd7-d0d9-4689-882e-e4e3d17b3a7f CLINVAR:102912 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01abbc32-85ac-465a-8e65-7d1a6d64e68a CLINVAR:623 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 620f00ab-8345-48cd-bff0-a9502cefb0eb CLINVAR:623 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1956aeae-dbea-4161-9fb6-76458cb72a3a CLINVAR:439226 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen da4ba839-c7bc-4705-a05c-b23c7e9867ae CLINVAR:439226 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0a0a560-8971-4a90-a160-e2e2ba296113 CLINVAR:689636 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7047383d-670d-4f63-adc9-a1266142af7c CLINVAR:689636 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9c64cf5-de34-4686-b3d5-b022111f644e CAID:CA367396714 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c062251-42ea-4842-b7db-0de2e326639b CAID:CA367396714 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22cb7557-b203-4351-b840-ed45dafe2c7b CAID:CA367403522 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d521c25b-494c-4b8b-9fdb-e992c20958aa CAID:CA367403522 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0343ac78-a079-4571-9f6a-593f059184e3 CLINVAR:420070 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d77ba290-85fc-4525-b24a-735b900d42a8 CLINVAR:420070 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29f7ebf0-972a-4780-8129-8df6f6cf36ae CLINVAR:129142 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2ba55252-c166-450b-ae11-93d65ed3cccb CLINVAR:129142 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b1dc84c-0885-4bbb-b36d-bed14df9de5b CLINVAR:439709 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b6d0cee-89f0-453a-a436-05e45a109036 CLINVAR:439709 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebbbd63e-0083-4103-8662-1ab32d3fb201 CLINVAR:1083041 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a828fce2-e677-4719-81b5-01f01d24e95a CLINVAR:1083041 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 791d9234-a3f3-4a98-82c1-7f4ca4b49580 CLINVAR:1125979 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca664847-5e1e-470e-876f-167db3043113 CLINVAR:1125979 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf3e455b-d423-4e5b-92a6-24dadd3cca2e CLINVAR:224133 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42600a90-d7f4-4512-a76a-66df71573cb5 CLINVAR:224133 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5eccdfc9-1776-4158-beee-e905ca541b6d CLINVAR:502478 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 91b99b46-6dc3-48de-a5b1-e3613db74d0f CLINVAR:502478 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18ded8b2-d645-4f7a-8915-d11d5f054262 CLINVAR:932847 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7266dec-045a-4dfe-8b2c-8f9eb265e6be CLINVAR:932847 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c622edc-1730-4dc0-9d8c-2bb98868c795 CAID:CA415087450 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9b2165d6-b06c-4065-982a-8048d78135d1 CAID:CA415087450 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cb22372-160d-48f2-89dc-845d6a0ff9df CLINVAR:203574 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39e6b474-9a97-4413-8584-ba41394366cf CLINVAR:203574 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac8917a1-a417-413e-b09f-9ea6413aa579 CLINVAR:11698 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 986219ca-171d-42ae-9f4a-cc3d5d13d7cb CLINVAR:11698 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 774a40f8-fa36-4714-b321-a21d2341b843 CLINVAR:429893 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8339006-5e3b-451f-9acc-e5421393e003 CLINVAR:429893 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 955a133f-41ff-4532-84a1-d71500365ae3 CLINVAR:421767 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c571f936-66a6-4173-92c1-7cc696c965be CLINVAR:421767 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8765360-9bb4-4fc2-9250-158c045b01cd CLINVAR:1319163 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4e67f50-a8e9-410d-8dd3-48825788029c CLINVAR:1319163 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6684ac6a-263e-49bd-9658-416594d5bad3 CLINVAR:328352 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b3f88a9-1e7f-405b-84d1-98e0c53dad6b CLINVAR:328352 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18cfaa70-07f9-482d-a15a-494eadd50e30 CLINVAR:16466 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49e33522-5694-4b43-b3f0-705d638950e4 CLINVAR:16466 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d350c7be-9152-4850-aa2f-4aa05b86fd63 CLINVAR:155951 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7bae4d7c-2c75-4d56-8ad0-0440ce1f3b7e CLINVAR:155951 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dda4765e-a24c-49e3-8fc6-1553424adb3e CAID:CA2579985999 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fd2f096-a5fb-4a00-999c-1213bdcee868 CAID:CA2579985999 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f018aa2b-1345-40ca-b294-52ec87ad6b09 CLINVAR:956400 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 86903b1a-5202-45a7-be5e-55083af60f2d CLINVAR:956400 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3c01f09-ed4e-41b4-832a-276e26a93afe CLINVAR:2412845 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e213759-866c-4a69-bf06-565ff5ae4739 CLINVAR:2412845 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ab4851c-e216-41ba-ae32-8ddc3840f3f1 CLINVAR:65692 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d27185e7-1864-44eb-9589-e4f90c7ad717 CLINVAR:65692 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14e31d49-a007-42ba-9a34-785833be1b9b CLINVAR:932737 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bd287a21-cfc7-45e1-9417-f071d7ee5585 CLINVAR:932737 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff10179f-7728-4730-b9e7-900827f5e582 CLINVAR:636961 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a4e47d34-798b-4719-b7c6-3a929f35ecc8 CLINVAR:636961 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66d11056-74dc-4372-9831-5f526b3ba6bf CLINVAR:867228 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f8158d0-8a7b-4345-ab74-60b96912b3af CLINVAR:867228 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 234a85ef-40bb-4bb8-8b9e-a8ccaec1597e CLINVAR:858462 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc442a40-9871-4960-87fc-459e1abb38d3 CLINVAR:858462 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f6e235b-1a04-4bc3-bfa5-0dc6f850cc04 CLINVAR:572229 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7f19c58f-11f5-4f64-869d-1665f5756699 CLINVAR:572229 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5876e8b6-2342-4595-a434-faa1ad4ebbc1 CLINVAR:549451 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed0093c5-a049-44dd-ba82-c75db13cd2ac CLINVAR:549451 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 170a1543-cdab-4d3a-8858-e1066b14ce7b CAID:CA397723375 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 09cb5c44-ee62-4afe-b534-45041ec22958 CAID:CA397723375 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4d791e3-37a6-4447-b392-3771dbf1069a CAID:CA2580610966 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d4bfd715-7c33-4594-a344-41b217860cdf CAID:CA2580610966 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cbaf5a2-7cc3-444c-b6ce-b06fa284ccc1 CAID:CA415090844 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12d56452-1f52-4d27-ba4e-c391017de3b7 CAID:CA415090844 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 683d91ae-336a-4b00-90b6-e3abbd45d7b2 CLINVAR:549178 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9254e004-217a-4127-aae3-e9fc9c3f26a9 CLINVAR:549178 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 510c83bd-ffa6-4405-ac1c-15d78e8ff839 CLINVAR:2138184 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a2a33e69-decd-490a-b76e-27a72f942e1f CLINVAR:2138184 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb8c0911-a026-455a-9477-092e034d47d2 CLINVAR:1387019 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d9d7bf2-21d6-4bfe-94f4-6f4f25e898f3 CLINVAR:1387019 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 302935df-1599-4efe-a5c2-cdffccd90fe6 CLINVAR:495563 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf21697c-cfea-44bd-ba08-f28f745bfe24 CLINVAR:495563 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37564f07-c0a0-48f6-b059-892b529d53d2 CLINVAR:477251 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3025adf-208d-4888-9485-e83be008eba8 CLINVAR:477251 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c0f0519-dd1b-45c1-8453-af1e13b2cf58 CLINVAR:2419155 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 67f47ab6-6c53-4c87-b335-33c7ffeb1939 CLINVAR:2419155 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63d8487a-2c44-4ee5-939f-914ffb159cbb CLINVAR:374123 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff62d546-3fb0-481b-94bc-70c40eb749f7 CLINVAR:374123 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2adacc1a-6b9b-4baa-87d6-c8e0359329ea CAID:CA415084391 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d1c70e6-ee4b-4ce3-97ce-9d818b825197 CAID:CA415084391 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5ef2eca-22c0-4bb9-8d88-895e3bdce97f CLINVAR:420991 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4ab0675-3150-4ce0-9437-65fe43cc021e CLINVAR:420991 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df2bb916-bf75-4dcd-be18-c3a944a3dd83 CAID:CA397723872 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b488a8d-d306-4f96-99c4-343f3c1f252a CAID:CA397723872 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22521818-7f29-4bd8-a952-15f81b0be05a CLINVAR:11696 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93e29a24-b7fb-4049-abf7-00fefe469f6b CLINVAR:11696 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b539ddb-3764-4599-b55d-e7d68812ecca CLINVAR:516841 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6fae0ea4-a037-457f-811d-0f795bf8282f CLINVAR:516841 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2d3c386-06f9-4b53-9fed-9fc25401cd52 CLINVAR:549024 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6d3d664-7278-430c-b63d-9f5f30a9eb8d CLINVAR:549024 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ad2a538-3446-40ba-8c32-c961d995c7b9 CLINVAR:804917 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89041078-4ab6-4bdc-bd2a-7aef954bea7a CLINVAR:804917 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 380e78f2-71ea-496b-a283-1bb994237875 CLINVAR:695019 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d84d5e20-a7b8-49eb-b790-4544e32a598e CLINVAR:695019 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a085a02-516b-468b-b067-08a5916ff810 CLINVAR:549476 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6773005c-c185-4e89-ac5f-4a6ce01e53cd CLINVAR:549476 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f19d044-1db0-4ca3-95cf-2dd1ebdf8ce7 CLINVAR:661301 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 16f7931c-b95a-482b-8ca3-93077f744f7a CLINVAR:661301 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afd94072-810d-4702-9cdf-5d1783873ce0 CLINVAR:163461 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b75dd7f-bc0c-4cad-9641-d099562e58d6 CLINVAR:163461 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba588470-79d6-4ce4-9ba8-f383ae6fb4ca CAID:CA415090882 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2f7597a9-dec3-4749-a237-dfd64a065550 CAID:CA415090882 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb8a91d1-d227-4530-bff6-b5cdd96b251e CAID:CA415086484 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d8b8958-dfff-40f5-b6e5-e9562060d39a CAID:CA415086484 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46b9adb2-53d6-4c30-be18-eb06874bf25a CLINVAR:254305 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be66a00f-2fee-4e0f-b1dc-787260b85f85 CLINVAR:254305 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a645abcc-cebd-4a59-a2fa-0d829fbcf0e1 CLINVAR:549013 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f741bfbe-7c32-46c3-b7a4-b513fff24f22 CLINVAR:549013 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0049554c-3606-4760-89b2-64ce3e66e96c CLINVAR:548999 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 716b8de1-d95b-4c45-825a-c5d3d256c299 CLINVAR:548999 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fd5efe0-21f8-4c2c-9fca-05163652fdb0 CAID:CA415088445 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58c076cc-b49a-4765-a03a-25ff559c6bcc CAID:CA415088445 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f1fc60c-3471-43a9-a734-6fe14d91b71b CAID:CA2580610965 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 737d99cb-1c14-4dcb-96cd-1ec755e14041 CAID:CA2580610965 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a7e3f7e-5031-49c4-9521-0ea43787ee78 CAID:CA8338094 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8bb74068-40c1-4009-899c-81fc22dcf449 CAID:CA8338094 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ea5501c-3e4a-4030-8396-7c713d5f3a59 CLINVAR:200193 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6376ddbd-8882-4a1b-9b23-47b18b6de914 CLINVAR:200193 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b532b54f-bcd6-4e34-9c21-375a584465c4 CLINVAR:932846 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7dec145f-90d3-4c7a-bd3a-67392449cbd1 CLINVAR:932846 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e295d7f2-b589-4a00-9b51-7f9860ce0b6e CLINVAR:636640 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a3575ab-51b0-4381-a084-56455ed3a4df CLINVAR:636640 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06d28d9e-2c92-4330-ac79-3e22972331a0 CLINVAR:429431 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40431060-830f-4362-b224-c5226bf23ad0 CLINVAR:429431 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cfbe5ca-034c-4019-9582-80e3e8114d96 CLINVAR:178034 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5bb61613-07a3-414f-b914-0e47bd684a3b CLINVAR:178034 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d250995-686e-4cf5-b4de-9e4d5ed94b91 CLINVAR:544257 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b3d3c637-13f8-429d-a86e-1615d1f241ea CLINVAR:544257 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b99cf17-a1a5-4cfa-a41f-34df699198de CLINVAR:549229 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc65633a-2445-4cf8-9b36-6732810697b7 CLINVAR:549229 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f17802c8-cad6-413d-bf8c-bf5229d85f0a CLINVAR:2683728 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12e017f7-8877-4450-b45d-13e5f49e46d7 CLINVAR:2683728 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abb7abce-5995-42f9-9cb8-bdac1ad58795 CLINVAR:554546 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cf378b4d-bd71-4752-b43c-9a160cb61092 CLINVAR:554546 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 299ff526-0781-4067-bd42-4e5df0b7654e CAID:CA915940477 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af6fabec-e56d-4370-90f3-cad6b5bc9fee CAID:CA915940477 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1bc34ee-937f-4753-84e2-ad7d0e5df335 CLINVAR:588631 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f49d5bac-2cc7-497a-974e-6d7b363f0f07 CLINVAR:588631 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b82c976-5bbe-46ca-a2a7-8d6585c46339 CLINVAR:646976 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37d62a07-e08e-4706-8a9a-6ff46d5bb269 CLINVAR:646976 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17cf0028-101e-4209-a6b1-128b854f6bbc CLINVAR:932789 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 11688047-cad6-4a62-8631-54cfe7fd92ae CLINVAR:932789 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6779b399-dbb2-4845-9c7d-b4d355951bf6 CLINVAR:522433 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 87313a78-aa23-4742-a608-2bbc3ca5abda CLINVAR:522433 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d166a8d4-0b6e-4e2b-92ef-160ca8fec827 CAID:CA402996840 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fc3d829-20aa-4c92-ba51-78952b33b70d CAID:CA402996840 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3ee1f48-1e84-4698-9102-8b9fe723349e CLINVAR:549001 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1bccf2bd-bfbb-46f7-b7e3-271813db1107 CLINVAR:549001 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43be4ad5-4d5f-422e-aa6a-e1597e5f52f1 CLINVAR:1703957 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 620a3147-5013-48b5-af56-cbf19ee93c38 CLINVAR:1703957 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5fb6bc2-0dac-4f6a-88f8-1afebc79300d CLINVAR:477250 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 206d2b88-a969-4b4d-942a-a5d93d93c82f CLINVAR:477250 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7a4264f-735f-425a-9adf-90c4be121e6a CLINVAR:1143525 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a95e9a5-64d2-46e0-8418-102d91efb149 CLINVAR:1143525 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ec7a3ed-6151-4ae6-8181-a7626f0e05dd CLINVAR:406288 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b482199-378f-4ff8-ac23-4336892b2830 CLINVAR:406288 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2897deb-f8d7-4a3d-a073-98e81dd3b983 CLINVAR:818179 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5288e3db-8c5c-4cea-bb7f-26edb3548d1d CLINVAR:818179 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9761c821-b3f2-4bd6-8f96-3d9e5c4ce4e8 CLINVAR:11700 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9beb0baf-4d71-4072-aae5-f1a0e10b7ffd CLINVAR:11700 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c93c1d7-e6cc-497a-a032-93c0477fad6c CLINVAR:1003911 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1fae5809-92d1-41ce-8dc1-b2ce5abd6ecb CLINVAR:1003911 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9723e0c0-19b1-4c0d-af44-fb3db957c4b2 CAID:CA415087684 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 382f0280-6bd2-4915-9510-ef6913e6c29e CAID:CA415087684 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c01ec82-bce2-4721-8396-64ec62d58ada CLINVAR:892468 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9648f942-d999-488c-b54b-ab42c3f37789 CLINVAR:892468 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8dc758d-7855-4ee4-ab6f-3d789e70e245 CLINVAR:706747 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 558ab3a4-3500-4f40-ae8c-9348170d4fa5 CLINVAR:706747 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d2dc8cf-137a-4bf0-81be-e4d18deda45d CLINVAR:2421360 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 405f16d0-5c0b-492d-a349-1454cd645658 CLINVAR:2421360 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c72f010-4ced-4ed6-aff2-1cfbe69522b8 CLINVAR:2683726 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fba7ce08-e31b-4db9-855e-c75a158edd14 CLINVAR:2683726 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b2daf15-13b9-4853-b011-a1ba516d30a1 CLINVAR:180355 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc3b72ec-2381-4a2f-a3cf-6392c389b977 CLINVAR:180355 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bfc206d-f1b6-413a-99a9-b5bb947e1412 CLINVAR:1325422 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f271bbae-f53b-4e23-87de-109665e3df32 CLINVAR:1325422 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04567e3e-a2e1-4df4-9447-86440575717f CLINVAR:495609 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c96d8a86-ceff-41f4-8cee-166eca87a805 CLINVAR:495609 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80ae65f2-af7c-4133-a9e2-78d554d92cca CLINVAR:155793 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b74a6ee9-23da-4f02-8748-f917ade03ee9 CLINVAR:155793 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 330d0285-fdf8-4612-a8b9-a7abfa907cd0 CLINVAR:222604 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5dccdd7-741d-4355-a66d-eb1627e0cb7b CLINVAR:222604 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe56b9f0-6c55-4891-a914-b57fc8fb32fb CLINVAR:449440 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0e5fd7a-bfb3-4507-bcfa-ba9251a1451f CLINVAR:449440 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aea8c0f7-587f-4f4e-8252-74aed89258bf CLINVAR:626882 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61e6921a-3959-420b-88d4-41bfd634ec5c CLINVAR:626882 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de0405e9-4fbb-4ff8-a3be-0c0236748e71 CLINVAR:495599 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60a9726d-9159-4377-b976-674d53f6d5a0 CLINVAR:495599 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 133c667b-d15e-4c46-93be-db0bb27dd43d CLINVAR:495594 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf716ed7-3aaf-42be-957e-bcf02ffe5265 CLINVAR:495594 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62b820c3-8261-4887-8856-b31c193df3a3 CLINVAR:549169 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b542cf9-3c53-496c-9969-aade7a52a237 CLINVAR:549169 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bb746db-b07e-464e-83d5-13d0b11f9a73 CLINVAR:263660 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 895daf2c-51ca-408b-9a43-3d887d691491 CLINVAR:263660 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5340ba49-6287-4f3c-9609-9ccc0e111d36 CLINVAR:928903 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e384bb4-34b2-4b2e-a139-7878e4c8f066 CLINVAR:928903 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc64a699-f159-4299-8d38-b42807e15c65 CLINVAR:222600 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73c449ad-469e-4b24-8b15-fc3e2deabfc6 CLINVAR:222600 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94812d92-d63b-4728-8306-259c9be8bd17 CLINVAR:549150 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6144c64d-e1a5-45b9-bed9-c28a3283158e CLINVAR:549150 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76544c9a-ffd7-4d21-af15-008ed25ab1cf CLINVAR:915814 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b7b0418e-b82f-434d-af43-cbdbbd033c82 CLINVAR:915814 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc8a0564-943f-43f2-afb0-0079015dd367 CLINVAR:264089 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 681c67fa-2ee4-4aad-9a38-d151fe3a9887 CLINVAR:264089 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5f28f2f-d453-4724-aa59-f308f5f777c2 CLINVAR:549070 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c26a4b6-aabb-4224-9bab-9ad6608af2e9 CLINVAR:549070 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dad52fb8-906f-4c36-a834-1af4df24e341 CLINVAR:519758 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a4089452-7507-4300-9b57-d494ff8b83c0 CLINVAR:519758 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8aa04e30-38e1-4d1c-9c53-3ca0ace2019e CLINVAR:98872 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14f64f63-0c41-43bb-9459-a4405794f4ae CLINVAR:98872 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0c53d55-be9a-4415-b62c-f3d94e08a936 CLINVAR:13114 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0dd1dcc-549e-4904-8a2b-dee0140b9ffb CLINVAR:13114 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68ed2d70-eae7-4c06-a3e7-81d39541063b CLINVAR:98880 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27042714-419a-47f5-8de8-1f95ed25f08b CLINVAR:98880 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5c6259c-8b8f-4bcc-833b-787bdb24f7f1 CLINVAR:660359 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06dd8289-cf1f-4056-b41c-9f6c0d7bf2ea CLINVAR:660359 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c82fbd81-e475-4770-bbd0-de963f54fa41 CLINVAR:98899 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3322177-ca58-456b-886f-34c00f6c2acb CLINVAR:98899 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5604e29-389e-4bda-88c5-6ed8a8ba0181 CLINVAR:98825 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d74b691-8de4-4dbd-9421-43b23c720f10 CLINVAR:98825 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d39019c6-9755-4cf8-92bc-dd668a27b498 CLINVAR:1067786 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 869e5d99-1604-4145-84b1-36158b224a16 CLINVAR:1067786 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2997e1d-7c0c-4985-a3c7-3d773f96efbc CLINVAR:13117 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b1ffd20-57e1-4a7b-ad80-ff963b56a29f CLINVAR:13117 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efd33d5f-7aea-46d0-9834-0a348159e9ca CLINVAR:1070755 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5abd9eb7-4268-4053-a2da-8ccf72ebc944 CLINVAR:1070755 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abcc8b3f-18c8-4d47-96b1-301543476137 CLINVAR:1380036 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1e93fadf-9ec7-4001-a83c-64d757f75739 CLINVAR:1380036 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 052c215c-d61b-4210-bfa5-517ebedfe449 CLINVAR:547296 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f3097b2-93e6-4350-9202-2b430685e13e CLINVAR:547296 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 019b30da-de7a-489b-9517-4844a7d64c90 CLINVAR:555394 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b850df48-110e-42c1-a8e7-415d9968e93c CLINVAR:555394 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d724e8e-6967-4cb1-b58a-9509ef7fce4b CLINVAR:1023481 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9dbc615f-9148-42a8-9a45-210871f24b92 CLINVAR:1023481 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 027fd767-5d3a-43c4-a1f3-ad72184993c8 CLINVAR:2683727 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6017d164-6a20-41b1-99d9-43451db768b9 CLINVAR:2683727 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8782c1aa-405a-46a3-afe7-a298e8902b8e CLINVAR:854099 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9967d37-fc43-4f92-b850-34406f25cc34 CLINVAR:854099 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a149dba-f98f-473c-9148-3647106027ee CAID:CA415087966 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f191dae-3c81-4648-a60e-f5588b03fe0b CAID:CA415087966 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2119cc77-40a5-4215-88e8-de0e7a67d4ed CAID:CA415090808 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9060999-1ea0-4c96-bbf3-09bc3ef29687 CAID:CA415090808 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5df471de-896b-49c5-b82c-2c962b055bde CAID:CA2580610964 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6b4657c-4cee-4caf-997d-c86c05c74ee5 CAID:CA2580610964 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6324fc01-5f01-47b8-8d54-414c035008ba CLINVAR:618516 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 252cbfd8-6074-4353-9ff8-5ae73a237ffd CLINVAR:618516 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75f1a366-7652-483c-b96b-ef26a7212e98 CLINVAR:338506 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed5c3f17-5ab3-4444-9347-6e22998fe0c8 CLINVAR:338506 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ec7be42-4af5-49bb-8dd5-b0650b214ef9 CLINVAR:1966 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f354311-76a5-436e-80e1-56d59a9eed59 CLINVAR:1966 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e3dba02-a61a-460b-9994-bee05fd920f8 CLINVAR:968664 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b07807a0-883a-492c-bf9c-1f8ca0d2edfe CLINVAR:968664 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19a95742-0cdd-4686-8dd2-d36025968dec CLINVAR:419664 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e959ba72-60bb-4fdc-979c-ff2efa8f470b CLINVAR:419664 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2af7b05-10c2-4512-b0b6-57e241ce4152 CLINVAR:418256 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5de2dd6f-584c-4707-81ec-75cf34178da0 CLINVAR:418256 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6accf61a-9ad9-4381-a964-e5b69cd9b8ae CLINVAR:804024 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b59886a9-fdda-40d6-a0a1-33612fea262f CLINVAR:804024 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30025a5e-2e64-417a-b488-77c6d0111cd1 CLINVAR:505549 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 140aae66-20f5-4afc-bc9a-a259ae4f98bf CLINVAR:505549 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faf76356-297e-4620-a3cc-9dccb7ed7396 CLINVAR:1979 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 377c11a6-134b-4ee5-b3bd-73be64e73d73 CLINVAR:1979 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76e2559a-582c-4916-b6b3-7b9a9cc7c3ac CLINVAR:68264 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5b4818a-028e-416d-bb6a-1f0ef32cffab CLINVAR:68264 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90d5e8e3-9879-4cd2-ac12-e0c9e4237209 CLINVAR:1963 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2e5fd0e-f3b2-4737-ad36-2726b00b5fa5 CLINVAR:1963 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bef504d-3d0f-4c09-9c0d-e0b0c3e16463 CLINVAR:468281 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cb074c7d-0ca8-4242-935a-b95aad194615 CLINVAR:468281 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ac02dfe-54d9-4f22-803c-d6909001721c CLINVAR:1075328 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f77dc7c-b93d-45e0-bcee-72659acae03d CLINVAR:1075328 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2928099-b6b6-4094-9626-d6ba0448dbdc CLINVAR:1957 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29abf9da-008c-40a9-86c2-1898e21f14c6 CLINVAR:1957 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c81b9aec-ef23-4837-a3f9-9c014646d7cb CLINVAR:550821 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c15093f3-fd7e-410c-baf9-7dc4411ad8db CLINVAR:550821 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fab62a7-9a75-4799-9ec9-a1a2d4b249ed CLINVAR:1473380 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 35fff7ee-a828-4f74-a1ed-e8b0f0525142 CLINVAR:1473380 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aca90c44-7745-4199-b638-d3ecd7d58399 CLINVAR:1969 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c322cb62-8e98-4362-9ee9-400d9662bd03 CLINVAR:1969 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6689672-a7dd-4496-ba72-af52a042ecf8 CLINVAR:254216 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e49a2074-5ba3-47c8-9d1b-f1e86171d27b CLINVAR:254216 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b48e6fa4-8221-4a41-b62a-bc5db326fe13 CLINVAR:986350 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 04919229-cbd9-4195-a559-0f3cf658a7d1 CLINVAR:986350 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee29b421-c3a7-4a7c-bc45-d99d4cd52895 CLINVAR:1713265 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b2b0393a-877b-412a-a86b-3d3ca0629852 CLINVAR:1713265 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df2c06ad-66e6-470e-a54c-1cc0ecc1a3f2 CLINVAR:1069380 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23d5d845-ba7a-4dd5-b4bb-cfc8ef77560d CLINVAR:1069380 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec38e389-29d9-49d3-928e-78e1b33cc4fd CLINVAR:254217 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7cef9e0e-f802-4b22-8f43-e4f696954351 CLINVAR:254217 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dcf7df3-e207-49f1-ab3a-5d073f6f3996 CLINVAR:1679474 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8562ab46-7e20-4f92-98d9-5ffb224d8f36 CLINVAR:1679474 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97d50ef3-13b5-468e-8890-292c5f027279 CLINVAR:1696158 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 145fe79f-0a38-4e62-b404-bc44b9bf94a7 CLINVAR:1696158 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75781eca-10b7-4598-aae7-9068dc8c1034 CLINVAR:804345 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 679f1e76-eee4-4912-8674-681c56ddf15b CLINVAR:804345 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a13e59fd-70ee-4e96-87c5-ba3bb5ee47b4 CLINVAR:353259 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 461850de-16d0-46a4-a054-4168221051b9 CLINVAR:353259 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d60142a7-0255-4360-a4d6-55ea7a0b283d CLINVAR:36392 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb2314f7-0c69-4ae5-8fde-6e090519d38f CLINVAR:36392 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8a06b02-d281-434d-9ba4-587a3c2c8b30 CLINVAR:224841 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9cc2b48e-6e8a-4584-a05d-cb0df0341731 CLINVAR:224841 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c8f17b4-0370-46f5-9180-f94b17016e4c CLINVAR:578174 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e5605afc-b2a2-45db-8771-cea9798c1d60 CLINVAR:578174 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75444139-7e87-4c62-a2a0-43c193ce9a2e CLINVAR:2187538 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 35c0e114-d8aa-4f03-a081-70bc560922a0 CLINVAR:2187538 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2690f73f-bcbe-4520-a54a-09361426443e CLINVAR:14841 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1586d19f-2c8f-4f23-9c88-77a0b40cec21 CLINVAR:14841 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 859d1918-f43f-445d-a1b8-880fced04201 CLINVAR:1034220 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74376d85-5021-4bb4-8f82-623f8d6e5ffe CLINVAR:1034220 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6aa14e19-fec2-4d85-b7a8-a4993d0e00e5 CLINVAR:304491 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c241650-60a6-4781-86ce-99c886853b57 CLINVAR:304491 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53886f3f-fb7b-4a34-a373-9fc15f2401df CLINVAR:285045 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45425445-56c2-482c-b600-5b3fe9d15ca1 CLINVAR:285045 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a777a0d-462b-4ee3-9e33-54f281e4cf64 CLINVAR:372487 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22b90fd1-91d3-4ddc-bd2e-a4c34403480e CLINVAR:372487 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1659cf56-f171-4847-92cf-4166092eb678 CLINVAR:626157 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fc13274-d6e5-4be2-b0f3-efe451689baa CLINVAR:626157 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dc2f6af-5b15-4f2e-93d8-7416e1b08caf CLINVAR:235411 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c737d32e-a259-4358-ab57-40e29d8b8e95 CLINVAR:235411 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b455a057-01be-4b32-ab37-37db68ef7937 CLINVAR:68681 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8adcea0e-7308-471c-95b1-28866a327ebf CLINVAR:68681 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeaed309-2f87-4ef5-9301-c4f51da236cc CLINVAR:496630 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be314616-bcf8-4d7e-8291-6a491a0c65ec CLINVAR:496630 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62535e7b-6764-49ee-bca7-027ff1889933 CLINVAR:13133 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 57a8e7d8-09f6-4b44-86e8-4a85dea0b588 CLINVAR:13133 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2abaaa8d-9542-457d-9184-ab2a29b7da6f CLINVAR:1075544 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21fa0148-fb0e-48db-b757-50eb8cc3f371 CLINVAR:1075544 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfa31484-7fb3-47aa-9cf3-3308e0aa434f CLINVAR:13130 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c197005d-d077-4e0d-9978-c8971bd23d73 CLINVAR:13130 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a58790e-1b74-4018-be49-270abb0dc256 CLINVAR:500475 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65caa390-7042-4b36-a86b-c9ba79e65f31 CLINVAR:500475 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3a88ffc-8df7-4ecd-8fc4-e10276cae3d2 CLINVAR:36719 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ae7c8c04-d47e-4c2e-ab83-3ff6dbd049fc CLINVAR:36719 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0732e980-b834-446d-891e-d2fa4a58031b CLINVAR:1412375 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 86ef37ec-1f5f-4178-85da-9e64a992fa69 CLINVAR:1412375 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6014e10e-d0e7-4cdd-ad9a-c85bc42a1353 CLINVAR:13138 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c0e3c7b-d246-49fe-b735-45cffedbf768 CLINVAR:13138 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fad6c034-784f-4f14-afda-8208b9553df5 CLINVAR:427020 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb9362b7-8cdb-4c0d-8d1b-e640c7d9dc2f CLINVAR:427020 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4daa8e70-d2ed-41e6-9208-2771ef54ea53 CLINVAR:624608 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc57184d-23a0-4038-b0d6-6d1f068de8c0 CLINVAR:624608 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf36b2f2-e826-4fa6-bba7-008621e50257 CLINVAR:36415 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ec45835-e662-4fc4-be81-c9187919b2cc CLINVAR:36415 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a92798d-053a-4d28-8429-0b9f0ec07381 CLINVAR:891294 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59ec8ebd-e55b-4f0e-beb9-1f7933e81ec2 CLINVAR:891294 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0576e193-ddd4-4f0c-873d-d7422c14028a CLINVAR:81020 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c947e812-2447-4dc5-99d9-481e06e2d478 CLINVAR:81020 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3266451-e7dd-4cc0-acd0-f3a8acb1abeb CLINVAR:36423 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6c1a65c-6816-48cb-aae5-e740a5288d25 CLINVAR:36423 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43148405-8bb3-41b4-8110-d715ef1f9789 CLINVAR:644288 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 41290afe-65bb-44d8-8eb1-2ba111b61658 CLINVAR:644288 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78251744-63a8-42e8-86bb-cd3d7cda067e CLINVAR:1999662 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29a6c8fd-7f6b-4f87-80bb-fa71d7bc5391 CLINVAR:1999662 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 626a8503-6ee0-43c6-8d0d-8ae9c73ce92a CLINVAR:2048620 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 871a65f9-a5c5-42fa-aa3f-a3d047625e95 CLINVAR:2048620 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6210d03-995a-48f1-b8b0-647d5aef4eaa CLINVAR:2054022 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0507d713-209c-49e1-b1d8-282ac953d7ec CLINVAR:2054022 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae0954d9-c124-40bf-b5f7-fcedc604f57b CLINVAR:962267 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 72166880-a709-46b9-b107-cfefcd0dc8a6 CLINVAR:962267 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ac8c70d-cfa9-4945-bd65-13077bbde525 CLINVAR:372386 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df7ea349-6539-434e-a5bd-758db61f4899 CLINVAR:372386 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dff70325-67af-4221-91b8-8062d6e1d9bc CLINVAR:280035 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31de0a71-fe6a-43fc-b71d-5db539ebf0ee CLINVAR:280035 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f1ff053-e9bc-4358-bf9a-59cfdff279e0 CLINVAR:225195 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c6b754d-eeb7-438a-a895-5b5868d85145 CLINVAR:225195 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76e0d9d4-f8ee-48a1-9d95-9cbe6f8e4bd1 CLINVAR:10027 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 618f816a-3db0-405a-b30a-900e97114a65 CLINVAR:10027 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02a64573-34bd-4480-9f72-cee5a41c7385 CLINVAR:837417 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd80e48e-6598-4a82-a08a-2fb116fd03cd CLINVAR:837417 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33ed3eee-cd4c-44f5-bfce-29355eb21189 CLINVAR:532191 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a77001bf-ffe4-48f3-8c2c-e5e951780836 CLINVAR:532191 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e396283-3036-4dc7-85f1-54ce507cf0e2 CLINVAR:1559662 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c22b3b9c-a34a-47f8-a6b7-8ef34219661f CLINVAR:1559662 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7aad68ed-a112-4b7a-aaf5-5beb08d0c9a6 CLINVAR:1368945 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c58d7fa1-1c20-47bb-901b-259728edff7a CLINVAR:1368945 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2d65e78-5bba-47cf-aa74-b7b2895810a4 CLINVAR:633274 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 819485fb-e354-4685-a9ef-be1ee3e6352b CLINVAR:633274 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ef02a04-2586-4dfe-b8b5-79ed7d9d6b5a CLINVAR:690455 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a5b260b-5f1b-47fd-a8e6-3344dbee8985 CLINVAR:690455 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b79c42c0-8207-4bc3-9aa1-54b7567f793e CLINVAR:932987 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 156fce2a-91c1-49fe-ab2a-b90a3828c941 CLINVAR:932987 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5722a13e-022b-4830-b502-2eba6b20743d CLINVAR:825366 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 232d7c5a-81c0-44bc-bd1a-accdb89fcefa CLINVAR:825366 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c46cb258-35ed-499b-8ab2-a4fc739c40ef CLINVAR:477225 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58c6ddea-6f6c-47c3-9d1f-03b6ea31527b CLINVAR:477225 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf623e11-fe7e-415a-b7c2-585176ae5ca5 CLINVAR:825165 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 566b6e7e-cb14-41aa-bb07-577a1914c878 CLINVAR:825165 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66547337-bd37-4478-acd9-27bfa544bda0 CLINVAR:939082 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b215f1fe-8909-4dd3-9bd2-efb4df8ec3b5 CLINVAR:939082 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11b879c2-4bcb-4bfb-acdd-f3ed6d790778 CLINVAR:933119 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9035ca35-bfd2-4546-ba56-3b9548cd2c9e CLINVAR:933119 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7212ee3-393c-469b-a889-86f3a65a0652 CLINVAR:30566 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2529ced8-8693-48b5-bc37-6395ce3243aa CLINVAR:30566 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1435cc08-d918-4711-88d1-93905e6d4d2a CLINVAR:36212 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4cee345-2ee4-40f5-8090-0bf896b51df4 CLINVAR:36212 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3c30d1b-b0ae-4f50-ac6d-e6b957ed9367 CAID:CA367402683 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9850bf8-b126-4cdd-8ba4-f814be20c4d7 CAID:CA367402683 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7257b69-087c-4b45-bea1-5b371ff63ded CLINVAR:447411 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3509587-d40d-4e81-8172-d437b8f2b849 CLINVAR:447411 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4745de0-a66c-4aef-8b19-156d5105d787 CLINVAR:804852 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 444c2daf-8421-4eea-bb7e-59475cd76a6f CLINVAR:804852 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0f29a4c-63b0-4404-89f5-0612db935b73 CAID:CA367401193 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ccb2c44-04bd-428b-ba7c-87f75d560fc0 CAID:CA367401193 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caf96ba0-b764-4915-a10a-d42c4cf02450 CLINVAR:1807279 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73b9c421-9bd8-4fad-b12d-c1f22f1822d2 CLINVAR:1807279 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dcdf3cb-fdb9-43a3-9906-5bdaf312e633 CLINVAR:995373 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa364e48-fe1f-46d6-ae95-183befd37fbb CLINVAR:995373 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb7a4796-cb39-4535-a47e-44a252100bc6 CAID:CA367397094 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5334f72e-f499-4771-98d0-bf06f2ffad7f CAID:CA367397094 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83cabc49-ddb0-4821-87f4-b95a86dcf2c3 CLINVAR:447381 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b55339b7-8ed1-4fad-b5c9-68950ce9fffd CLINVAR:447381 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ad67feb-b28d-40e0-8f32-8e4727fcc84c CLINVAR:36174 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b36ae518-3c4b-4871-a6b0-bd32713d17b5 CLINVAR:36174 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9782bfec-b90b-47d7-ac3a-491a3eab9847 CLINVAR:418228 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00434b37-939c-40f1-8d5f-85c1f379aa0f CLINVAR:418228 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8344f64-82dd-4077-9ce5-f979dce28346 CLINVAR:2691825 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7df994f6-6d1a-47f1-8cd6-6850fe15469a CLINVAR:2691825 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a15d61f-8722-43fc-9c86-ef5d7d9ce554 CAID:CA367401296 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 466457a1-6660-44b0-a9f4-386c520fc93e CAID:CA367401296 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13fa9032-5609-4c48-9719-56e03db15e24 CAID:CA367401320 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f4c4d2a-0b8b-43a3-abb0-9245dde7c787 CAID:CA367401320 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2054147f-6ea7-4781-adfc-58df0e4ed199 CAID:CA367401688 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d25507f-443e-4e00-83b4-e208967b7595 CAID:CA367401688 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5543cb20-49a0-468a-9eb3-8311da1ed8d6 CAID:CA9870415 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93091d5b-ed6d-41b4-a05b-5f766873657c CAID:CA9870415 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39281cf9-af1a-4aa0-bdfa-fc3237fc0a30 CAID:CA409108291 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2bf07fa3-7473-475b-bff8-462bf054082b CAID:CA409108291 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f9e3f9b-9fb2-443b-9a02-5365d3adf245 CLINVAR:36346 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27cb62d8-0691-4998-aa22-7be2700c2bf8 CLINVAR:36346 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ead72e9d-da54-4cf1-a36c-11087fbc27f6 CLINVAR:1299754 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 288261ad-5944-4b03-a2ed-c35adfadaeff CLINVAR:1299754 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2341e993-7e1f-4e05-a02d-c605d44d7593 CLINVAR:447521 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ecbf8ba4-3c4c-487d-b320-c09fe0cbee8e CLINVAR:447521 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ba1d8af-f980-44b9-a442-3c9b9a1877d2 CAID:CA386964742 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d51fbc6-f49c-4aaf-8235-cb7d9a9da2e2 CAID:CA386964742 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 117b4d8c-ae41-4667-9eba-b7ecf49833b0 CAID:CA386964799 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c5b6bec-a165-4864-9bbf-38125a6df907 CAID:CA386964799 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11297405-2036-4ead-a3d5-7c3367fedec3 CAID:CA2580611076 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b12037e7-428c-458c-953a-86026700a807 CAID:CA2580611076 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0aaee7d-701f-4d07-8063-a9ed46e78675 CAID:CA386965032 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f200f53-4df8-400c-967f-7166166a0faf CAID:CA386965032 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9da98b6b-5b93-45c7-a3be-5fbb922cee55 CAID:CA2580611120 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0b76496-1f14-425f-9a1d-4b23d3bfa2ae CAID:CA2580611120 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 682f7cb6-2655-4a6a-80e0-af8f38205eec CAID:CA2580611121 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83c8bf8b-99b8-4b61-a367-84678e1a8370 CAID:CA2580611121 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4d9d2d9-f666-43d8-ace3-5005bdeec45f CLINVAR:2691846 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c532cfda-4b5d-4c76-9a0d-9f2c6ce7fb1d CLINVAR:2691846 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 823ec746-48cc-48b9-ab19-321481e8699a CAID:CA386960641 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46fdfd8e-6142-4e6f-ad9b-7109be1a3f4e CAID:CA386960641 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb5cfc4d-67d8-4b82-ae52-833fcce1629a CAID:CA386960737 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b84c8ef9-379f-4fa7-baf1-354abb3af9b3 CAID:CA386960737 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3441ff8-3b8f-4dc6-b284-372b9834a0ad CLINVAR:897015 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07f45f30-827f-4be7-a28f-eae1c0ba35cc CLINVAR:897015 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fed53b1a-a182-48fd-ae83-f6ed99b5f16f CLINVAR:2088001 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95da015c-fbbe-4bfb-9405-5e4e01dd813a CLINVAR:2088001 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdd1a3f9-a698-4df8-882f-d0b7594278f8 CLINVAR:558340 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e715515a-4592-4f93-8031-4d0891448f8e CLINVAR:558340 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7e74c12-dba1-4779-9822-0904c5efbc3b CLINVAR:1505857 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3e9dc801-e9d0-445a-ba6e-9bcbc5f82b36 CLINVAR:1505857 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb450b6c-0400-45fc-aae8-6371eb821dfc CLINVAR:402341 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b445aec-faac-4795-bfdb-c6ca990aff99 CLINVAR:402341 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f2ec0b2-2efc-4c44-8315-eeaf2c87feda CLINVAR:1722324 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f18ab7f-2882-4ded-ae5c-1a37aaa28d97 CLINVAR:1722324 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e644b370-40b2-467b-bd39-0beb7240ed81 CLINVAR:2118854 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2efb5b04-2c17-4b49-9a15-d2310c8b3901 CLINVAR:2118854 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42e7c56e-0580-47eb-b295-2e3b9cea284a CLINVAR:2288152 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3616bf7d-3774-4690-8e41-b1e2fa53f2f1 CLINVAR:2288152 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8339e8f-e5dc-4399-88fa-63576ae67a11 CLINVAR:2163795 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4f809bd-bf71-47c7-a110-fc625511b0a4 CLINVAR:2163795 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 869705be-e46a-4137-bbd5-346c23a7bf6c CLINVAR:969751 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89f63159-e93b-4fce-9270-5193990c36c1 CLINVAR:969751 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2993dadc-fd99-4a7c-a9db-df12cfb4d37b CLINVAR:4665 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 399bec5a-8c89-46a7-bb05-23af5e8b9f12 CLINVAR:4665 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85259af6-f34e-47b9-b22a-52711449d6cc CLINVAR:802564 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 52eb8d92-fcda-4060-b9a6-5221b0b0af29 CLINVAR:802564 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1ba54ac-1137-476a-bb14-290367f6b78b CLINVAR:1364174 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fae9b815-ba19-4c79-997a-b669fac87ac4 CLINVAR:1364174 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52837a02-fa63-4f8a-8d02-a3a466ce7213 CLINVAR:4674 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72655674-98d8-4eca-b168-c30c5b4ac6a0 CLINVAR:4674 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd45674e-adcc-44e3-8d65-18dd24aba58a CLINVAR:2136852 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9256c0e4-149c-437f-80c9-2c4c98f5f618 CLINVAR:2136852 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18617057-34d2-4264-b44e-73983cf0ca85 CLINVAR:1438811 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6aab578b-271c-435d-81d2-994ee9ae44fb CLINVAR:1438811 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb556d1a-a0e2-48d5-a175-728aa01903a3 CLINVAR:2136853 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0120e26c-3cbc-4598-aebf-6fe5fc42e737 CLINVAR:2136853 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac296503-de99-43ee-952b-de21953e08d0 CLINVAR:2107279 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5100328-ce12-4802-ac7f-fe37d380d06f CLINVAR:2107279 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1c37666-1ab6-4282-bce4-3dd472d41d83 CLINVAR:841042 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88c0c137-5486-447c-ae5d-c85679ce5e37 CLINVAR:841042 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b82c000-5e73-464f-8d77-d75549587fe9 CLINVAR:4677 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05fadb23-0245-4a9e-83cf-ed339464a06b CLINVAR:4677 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 921f8934-e22b-41bb-aa7f-31664cf0ef4c CLINVAR:381576 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa975dea-8413-4903-a210-482fb8d3b943 CLINVAR:381576 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad92a41b-298b-446e-826e-13db82a2226b CLINVAR:496633 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42a2554b-afb2-4717-bf9f-c137c17177f6 CLINVAR:496633 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e97a7372-757e-4a9e-91c8-10684cccbfd4 CLINVAR:650904 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 21e92e81-cd32-4421-bcf2-50f675505080 CLINVAR:650904 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e9cf9ba-9194-4163-93c2-60ed11eac357 CLINVAR:496629 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e6a56913-33f9-42db-a999-cef1e8f01c6b CLINVAR:496629 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 114e6fab-2cda-40e9-bccb-d7f7aa1fdcf1 CLINVAR:549915 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d45eddb1-c05a-4324-8257-de512e47927a CLINVAR:549915 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03715e3b-b29f-4385-b10c-d750d69c2cd5 CLINVAR:304492 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a2dd443-e9b5-479d-99a3-e912f4a986c6 CLINVAR:304492 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecf0953a-6eff-4c27-8ec7-8c295f2f50a8 CLINVAR:555182 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4c4f150-383b-4e99-9d0f-7bed70de78b5 CLINVAR:555182 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen facecd84-9046-4fab-8323-17f2da9cdf7a CLINVAR:36393 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9e741fd-a5ec-470d-b103-279d4d279c15 CLINVAR:36393 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fea26e3-b4a0-44a0-ac64-f724a3579750 CLINVAR:14843 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aaee558f-998c-4584-a03c-c5faad804b37 CLINVAR:14843 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3db0e42-7772-42b9-b8da-9938648b569d CLINVAR:1968 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e9365b4-897c-4bce-839e-c4fecd5a907e CLINVAR:1968 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 363283b2-f79d-4b97-897a-0b410c2dc23f CLINVAR:529744 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d722a78-def6-4eea-85c4-3ebac03dd664 CLINVAR:529744 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6ab10ea-e380-4fe5-8030-9fe280dd5a62 CAID:CA343774510 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d38f1499-3770-457d-8ed5-51c525abc0d1 CAID:CA343774510 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b263c613-d7f2-46a1-9ebe-78b9f7e611b9 CLINVAR:660852 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71cc3c48-b7a7-4aea-aea8-5f3dec932095 CLINVAR:660852 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83c4bd00-9e06-4608-8ade-06307da1cd77 CLINVAR:694627 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bacc1a35-f995-44c4-8613-8322d257c7b5 CLINVAR:694627 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f0a2822-ba52-4e9f-9548-f8703d4a4281 CAID:CA2573051124 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8add3a32-10f1-4a7a-9e6e-737d21182d2e CAID:CA2573051124 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43b02f3b-9e75-41ae-a881-a64a576e23b5 CLINVAR:18017 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0b7d635-2370-4957-b149-aa1a3a73c850 CLINVAR:18017 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5a5c2aa-ea3e-4bee-be9d-8443f1ac420d CAID:CA421942771 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 449fcc2b-ca30-48fe-ad47-d848f448e8de CAID:CA421942771 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf101a29-090d-456a-9416-869c58644165 CAID:CA2580612102 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 519e740c-af2d-49fa-a4e3-3fca25dd1339 CAID:CA2580612102 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dfa7516-0a23-4184-b990-b06adc5cb5d2 CLINVAR:585914 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b4590f0-d464-4b46-8d53-48b7136cabca CLINVAR:585914 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 595ff211-a0fc-4792-8725-3e43159d2b7a CLINVAR:36172 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c1cec64-dd47-4d70-bb3e-9f45087e93da CLINVAR:36172 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 486bbbf1-af9b-4986-898e-4a200dc364e8 CLINVAR:2691837 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc3d6157-4c82-4c3f-9d5c-15ce172efcd4 CLINVAR:2691837 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28aa8595-a17f-4cf7-b963-9186b850f5b6 CAID:CA386958785 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1711038a-28c5-49cb-a9c6-30e6b909e386 CAID:CA386958785 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59c0eed3-262e-4880-8cf2-2e44b525c177 CLINVAR:1384058 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 662b31cb-274b-492f-b90a-8672bb388490 CLINVAR:1384058 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40fa90ca-b299-4598-877a-6a7936072995 CLINVAR:1298987 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80c70e02-a773-4b13-afd6-0c0e51d76350 CLINVAR:1298987 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fb4e1d7-1047-43b6-a789-758f68c598cc CLINVAR:642787 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8adb9c2-f19d-4780-b7a2-70483016afb0 CLINVAR:642787 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf5f7baf-1a7b-4e9c-bab7-9e8fb48886de CLINVAR:1323115 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 37c6352f-f9a8-4234-b4a1-fe451841d4c9 CLINVAR:1323115 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68868293-56a1-45ac-a3ee-98cf165af3d1 CLINVAR:1028611 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc834db8-1591-4193-8241-e9234583a4da CLINVAR:1028611 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36780a43-9445-4158-9213-d5c07e54c4ca CLINVAR:596673 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b50b442-1327-4b09-8ae5-2fcef99ca1dc CLINVAR:596673 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89d02365-b4d3-4231-86ab-56010a408d03 CLINVAR:866507 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c9c4817-0282-4e1e-8724-3c859d848850 CLINVAR:866507 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 005a4426-6bcf-451d-bdef-8ab9236779d2 CLINVAR:29873 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ec0422b-a3d4-4848-9a7e-439884b2995f CLINVAR:29873 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04926e85-3e4e-4c7d-a3c5-38eeb714ea26 CLINVAR:98846 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be9d0ed6-4455-413c-a8f4-c5cf43d6a490 CLINVAR:98846 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ea6c604-0925-4606-b203-afd2885787ad CLINVAR:98848 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 821273d7-faf9-4e81-99c5-d158c31f630d CLINVAR:98848 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80f91e0f-6192-4109-a4c1-a8554a7c71c4 CLINVAR:1369885 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e38e6ce2-2958-488e-9295-6171851df0ef CLINVAR:1369885 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06a8992e-ae41-4c7a-ae2d-76aed9cba434 CLINVAR:379561 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd171472-7ec2-431f-8501-72c6dece24f5 CLINVAR:379561 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 284eef2a-ec66-44d3-8623-886323287419 CLINVAR:98835 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34e5a7ed-46ee-44d7-945f-d51d55fd945a CLINVAR:98835 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97bc3dfd-e71d-4c32-ac93-0f0c47a9d4f0 CLINVAR:973955 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 83302766-3ca8-40d9-a25c-8e64b2f0f6b6 CLINVAR:973955 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d338846-4403-4993-84d5-94b325194d8d CLINVAR:964193 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4dde87a-c100-4977-ac70-0f1f46809f4a CLINVAR:964193 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2fa4e55-5fb5-4645-8ff7-46b35367c442 CLINVAR:467827 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c53079b8-38ca-4fa3-8a7b-09c5e6ba61b9 CLINVAR:467827 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb16cf08-6273-4038-84ce-610f1590977b CLINVAR:1213912 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f1de260-491e-4366-964a-02c366187efe CLINVAR:1213912 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 529085f5-c218-4d5c-93ea-9c9694c985e1 CLINVAR:10019 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc5ff9c9-94a4-436d-806d-c11d1348bd0e CLINVAR:10019 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23c78007-8af0-44d0-9854-17efb8da52f6 CLINVAR:941327 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25ecab33-12c2-4079-86e6-a9c9f0937871 CLINVAR:941327 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b11dc5e2-a815-40ae-acf7-bccc7fbf80bd CLINVAR:1339483 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7acb769-c985-4ed3-be1f-070e64dd61db CLINVAR:1339483 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2b8371c-4f0a-44a7-a616-fc2627947679 CLINVAR:429640 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9307d3d-3a54-481a-b1a8-d749b9ca17c7 CLINVAR:429640 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4aea1f49-8001-4a42-a41d-ac708fea7bb1 CLINVAR:36169 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 796a13e5-3686-436f-a219-d78b4be51fd4 CLINVAR:36169 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce54bb0d-9934-4725-98d9-8d1128b3447a CAID:CA367400637 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0025b3e6-7803-4fe0-90af-d67cec0a6c12 CAID:CA367400637 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bda139d2-49f9-4f48-8fcf-7593817be43f CLINVAR:2691831 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 780d8d93-d958-4b21-939d-2783c7af01ca CLINVAR:2691831 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b527d3b-04c2-4252-81ea-c45747a6a1ab CAID:CA367401125 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7675194d-6d7a-42d6-9c2b-fa0b79aaa40e CAID:CA367401125 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c4ffd81-aad7-4834-a607-1d78c1f62541 CAID:CA367403546 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4bbc766c-4ae6-4316-9554-304ac42b48ff CAID:CA367403546 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f891d667-772f-4b54-906d-f90ea789c8e6 CLINVAR:1335461 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 682d123d-d516-4814-9717-5498ab5dc622 CLINVAR:1335461 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e3dff32-4906-4e9a-bb01-5014a95c9454 CLINVAR:456438 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47feb386-026f-49da-931f-22b35f122368 CLINVAR:456438 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9edc6f3-250a-418b-953c-ae9daef17d3a CLINVAR:526525 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b302ae2b-692d-484f-9c93-0e77104cd62c CLINVAR:526525 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebaa9d10-ce32-47ba-95ab-67821f4e42b7 CLINVAR:439746 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc27796f-73de-43d4-9cb9-b6bd8adf8832 CLINVAR:439746 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 387a5a2e-c411-49ac-8446-4810355ee36d CLINVAR:282242 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb1d0b94-30b2-4025-bd90-203b03d87068 CLINVAR:282242 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a17cf76-e8e4-47b6-8cce-c90e6acf8e24 CLINVAR:284232 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 754b61c2-cceb-4e45-9bab-d8127038a4aa CLINVAR:284232 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e825da5-6608-491f-87de-83ae2fb55e88 CLINVAR:465141 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ccdd5d0-b622-4b4d-b987-fe5476021517 CLINVAR:465141 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 997750ee-9e21-4893-81dd-849d5294f522 CLINVAR:533700 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 07f98791-0b32-4555-b98f-c4ee6c7a887e CLINVAR:533700 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b468c3cd-6aa4-4f74-b7cb-ac35ee0921cd CLINVAR:2683736 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 773eb1f0-dab5-4264-8b9a-6ac414702f36 CLINVAR:2683736 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e669cf0-3612-4762-afcd-f39509c7f146 CAID:CA645287926 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e61112d-ad03-49d8-8b1e-50f94172928c CAID:CA645287926 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05b9a338-010b-4cd3-844c-ffd6f1ca5230 CLINVAR:2031214 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d70f4206-3e2a-4968-9b14-6cb3582a9f89 CLINVAR:2031214 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a210654-a120-4964-98dc-4f2f27bb739d CAID:CA415084839 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ee4fbe5-b195-4da0-91fd-4728f85e4502 CAID:CA415084839 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcdc4b79-510d-4bd6-b302-c4d80a432ab7 CAID:CA415078334 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a58d0de6-1d8a-43cb-91dd-b2bf97c5ec21 CAID:CA415078334 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac6ec15d-0fe1-4237-888c-3c2eba60ca2b CLINVAR:917495 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49bb00c4-d080-414b-957e-089451c8a85d CLINVAR:917495 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b008b78-8dff-4512-86dd-e56e5ae1558f CLINVAR:917496 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33a59e18-4f07-46e5-a625-414b5c275400 CLINVAR:917496 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f866bb46-08d3-496e-a76d-4131774c99b6 CLINVAR:36712 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a840a57-dc1d-4962-9bfd-fbd6a5c39098 CLINVAR:36712 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52138078-379e-48df-ba00-e264b5669ee4 CLINVAR:583401 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18235c6d-2abf-47d7-93b2-11f11fc2217b CLINVAR:583401 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e53cc08b-d45c-4ef9-b039-a3cdda4a9b22 CLINVAR:231277 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22c973ae-f996-40e3-8e47-9c032d157f6d CLINVAR:231277 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc40ef49-8242-4b35-bb38-a2465a451d59 CLINVAR:135775 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 888e2c5b-57e3-4f70-8191-4db932cd46e4 CLINVAR:135775 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef407cc0-dfb1-47ec-b43a-1473864b0588 CLINVAR:181996 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 166d2d00-d763-4f18-9645-b1499f068720 CLINVAR:181996 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1a5d601-ebdc-4e44-823b-8e6d3fb569df CLINVAR:407515 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a4ed741-5335-499b-ae56-857cf70d833d CLINVAR:407515 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79e33c36-459d-4c5e-b951-3d15dc08d7b7 CLINVAR:407510 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d30282c-31d0-43e0-87fd-4ec03f60a380 CLINVAR:407510 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60f8ab63-cac8-44a5-a06e-547eb8c17a99 CLINVAR:229794 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1548993e-1153-4dac-a0be-669ffa5ecf12 CLINVAR:229794 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cda0dd9a-22a5-4cd2-9c91-a20f5313c684 CLINVAR:127459 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b592d8f-4d2f-4e77-93d3-a0057e844b69 CLINVAR:127459 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a744b2b6-360a-4e8d-a5d4-e31279a4996e CLINVAR:2921289 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6279bb47-4a28-4023-bb08-bc3880d6d0aa CLINVAR:2921289 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b126643-1c01-4560-8eec-ad4d400eafa7 CLINVAR:569567 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26558d1b-fe16-4619-982c-3081d8ce6897 CLINVAR:569567 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc8df457-cc54-4e8c-a8b7-58784bce69f6 CLINVAR:1713223 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6e7fb32-d73e-4076-a459-b41dba1fb9c8 CLINVAR:1713223 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82f205a4-75a6-46a9-9593-737c48461c16 CLINVAR:2921288 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c16102c-e728-4020-be09-77c4e4878dca CLINVAR:2921288 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fcec020-8eff-4864-810f-8d928b0200c3 CLINVAR:220121 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e09495c-c48e-4e93-bcb2-207358cf805c CLINVAR:220121 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c9f06b1-dffe-4a3e-add7-06cf27fd9f9c CLINVAR:265634 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 35a899c4-8f28-4af2-9864-35f08ff92b55 CLINVAR:265634 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6b9c274-a522-4628-9792-8cb9d36cbe68 CLINVAR:127405 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46900074-aeeb-4f91-847d-2cfb0cd46fd6 CLINVAR:127405 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a3bf305-e4e2-440f-89fb-f6372672458a CLINVAR:141887 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8306f6b-abf7-49d5-aec6-911b700b6d5e CLINVAR:141887 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e400b33-d29c-4fdd-b79c-66409d8c79ab CLINVAR:141474 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 314f5db0-7c87-431e-b435-ce2f2c823abc CLINVAR:141474 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fd9a3eb-e0ec-4ace-a3d3-c7ea7f845600 CLINVAR:141742 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5d47fcb-4955-4a6e-9734-7b09d46806fe CLINVAR:141742 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66d72751-65f6-4bd9-b604-a112312c4009 CLINVAR:216021 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c0e15eb-8cbd-4e5a-89e7-57d4dd366c18 CLINVAR:216021 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69523608-e877-41ad-98ca-c07acfed7f7d CLINVAR:556315 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87bc8669-1bdf-4554-995a-7fdc4f00df14 CLINVAR:556315 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac63ed7d-e6c7-47dc-8000-7d51e2341e8f CLINVAR:127463 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cfa136a7-2055-4a72-ad95-47754a03b1b1 CLINVAR:127463 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44ab6c69-ed23-403c-ae4c-175b51d2aab7 CLINVAR:989764 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4984e18b-675f-49ad-aca2-419b912aed33 CLINVAR:989764 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 845b58d8-168e-4ee6-a166-d8b6b818463f CLINVAR:1515797 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0edcfab5-406e-4aff-bbc6-48bd1ef2293b CLINVAR:1515797 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 545c316d-b96f-4966-a035-87182ced17dc CLINVAR:1057857 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6fea741-64cc-455a-a3ac-03c55ff7d01e CLINVAR:1057857 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d30409c9-8dd6-45b6-b193-3a146f4e5896 CLINVAR:522770 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf9dc674-9f18-459a-a8a7-b27f2f643946 CLINVAR:522770 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dedec4d-2470-490a-8e75-cff412d624f0 CLINVAR:1015913 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5dda1c29-b725-4546-a281-c43e68138cc7 CLINVAR:1015913 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 379e3f57-ce6c-445e-b1fc-c4af13c39b2f CLINVAR:847561 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a468cc13-b694-4066-92a5-e2c986902906 CLINVAR:847561 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4d371df-ee63-4a76-ad42-d966e17c19e3 CLINVAR:2440718 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f55e0f4-7a7e-4b22-894b-97dc97854100 CLINVAR:2440718 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c875b6b9-96d1-41b0-9496-c2a5ce24a536 CLINVAR:877154 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b01e2d7f-55a1-41b8-a359-e167cb8f019d CLINVAR:877154 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a2da84f-369b-4d0f-93ba-9e1ee1f7e7f8 CLINVAR:1438768 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67d0fca1-870a-4c55-a42a-9cebbe77d3c7 CLINVAR:1438768 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6a7526f-dc8b-4cc2-8217-182c60e5fb60 CLINVAR:968725 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 30afb333-ba96-4e18-8b65-4e25a448bc71 CLINVAR:968725 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cf9019e-3583-49a5-a64e-72ba8f177e3d CLINVAR:2199693 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26e12d73-38f7-4ecd-83be-2383f5757d49 CLINVAR:2199693 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b0dfb94-bfd2-476b-b6b9-9dd184b6af02 CLINVAR:633185 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf5c55aa-beed-481d-aaa9-73c8a275fc2d CLINVAR:633185 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2db12581-4987-40dc-a085-b5a4ae663f10 CLINVAR:1515264 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ad5e4ad-62b6-4063-b2e2-35b20477d712 CLINVAR:1515264 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28340bd9-cbb1-460b-a79f-5578c7997cd7 CLINVAR:655337 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 655f017a-9e35-46d5-9898-6668d034571f CLINVAR:655337 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80bb5049-15eb-4b3a-a7c8-cb15548748f4 CLINVAR:1434035 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0eb6f58-dd3c-4e4f-9eac-ed661c555cca CLINVAR:1434035 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa86791b-fd66-47c9-bfb9-f704501751a8 CLINVAR:536367 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 035ceeab-0247-4b72-8724-f45efa59ee6f CLINVAR:536367 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee7d1a2b-04b5-4004-af52-df319239c9c8 CLINVAR:648095 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08eeab95-83ac-43e8-b26a-620bf5b535f7 CLINVAR:648095 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d7ef225-a938-4f71-b9a8-6708a097de9c CAID:CA1139771319 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2685df4-5c5d-4cca-a560-98c6dc141019 CAID:CA1139771319 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c306141-77d2-408c-85a0-a6a168a1d8c2 CLINVAR:281715 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b37fa88d-18b2-46b5-8253-0027b4825d71 CLINVAR:281715 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e771505-bd5f-4579-96c2-b33a7365600f CLINVAR:98889 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d86f385d-24bc-4f13-bc04-d2fe10c010e8 CLINVAR:98889 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98ef0b32-95dd-4151-801e-79bbfb7697bf CLINVAR:1069898 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 827c5029-ad24-4172-97c0-7530f3fb06ad CLINVAR:1069898 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56dca9c1-f8ca-44a4-9285-0a2725bd78b9 CLINVAR:98888 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84391a6e-75b4-4a39-8c63-eac98603f994 CLINVAR:98888 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71496e3c-418d-4cea-965a-6672a5eb8417 CLINVAR:658837 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 71e8f115-a145-4cad-b8eb-1c353d35ca9b CLINVAR:658837 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea780627-dddd-4a3e-bcd6-3dbbe4d2637e CLINVAR:421620 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c54df76-d218-451e-9fc9-0f5d6718e1ba CLINVAR:421620 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97385601-94de-4fc8-9913-8ba26292f9f1 CLINVAR:870342 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d55f93c5-8167-4169-93fd-daecd80b6511 CLINVAR:870342 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65157cb7-e2a1-441c-a7e8-842f9e69eb6b CLINVAR:962032 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d46f209e-fbf8-4b0a-899f-ef74c15bb7c0 CLINVAR:962032 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adf1b52b-6d74-4eee-9286-3d426bbe11b9 CLINVAR:298021 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d570feda-914d-4475-821f-622a32bd6cc1 CLINVAR:298021 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca063ada-e258-412d-ac0d-6c01dfc9c6fa CLINVAR:876133 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6dc46c03-e832-49e5-afa5-c581480d632f CLINVAR:876133 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92a0a62b-0944-4206-8357-72d730acf209 CLINVAR:1026379 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37b068ba-33b8-4140-aae5-34512bbc4156 CLINVAR:1026379 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03a51e8a-fe73-4ac5-a060-f2a1620a0d58 CLINVAR:874234 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81029598-9ce0-430a-a80e-6f14b764210b CLINVAR:874234 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34e0cbd2-58eb-40be-9d23-e5b8e3a68f50 CLINVAR:627224 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02d4e397-da04-4ad5-b00d-38bd1c228c3d CLINVAR:627224 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f658f130-1258-402f-b9df-a525f3fe6fae CLINVAR:1170692 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a6d81db6-0303-434b-a9c5-c2d424fe562f CLINVAR:1170692 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d32cd23f-8f77-4e4b-963d-3001f720bbfb CLINVAR:529741 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68c8ea28-16f2-4b01-b76f-4db456bb2685 CLINVAR:529741 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2459b916-d09f-47da-ba2d-d0ab1560b3b1 CLINVAR:18004 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 990e73ca-0525-48c3-9d8e-bbc9bc0e4e40 CLINVAR:18004 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05f9d81b-59fb-4587-8601-84c74cca5d37 CAID:CA343772379 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84bc4d03-f374-4aa5-bba0-0fdce5d7a4b6 CAID:CA343772379 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 383a38b0-4988-4b61-9d62-db663c5fe383 CAID:CA343772388 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eca3ff55-91e3-4387-9956-74a726063423 CAID:CA343772388 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b1cd7a2-0f74-48b5-beec-79b5d453f3a8 CAID:CA343772391 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f03a343-3e85-4820-be1f-ea90aab74a74 CAID:CA343772391 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 264a8335-c186-4f38-b36a-15fc71239a3f CLINVAR:1954374 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3499f70-1dba-4d41-b96b-ed02a6f2b320 CLINVAR:1954374 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4979b2b-09b0-4eb4-9b6e-8dfa1017a606 CLINVAR:36232 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e752263-0386-40dc-a606-4230d56c5bb6 CLINVAR:36232 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30cc1891-504a-445d-b552-741659a61fd3 CLINVAR:1213917 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb248537-e199-4aaa-9365-7e2355fd6be9 CLINVAR:1213917 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e04ca46-cd62-4eef-a4d2-6c5a058c2d5e CLINVAR:13118 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d6036f3d-693d-4e8d-96cc-9d2c2fa6f922 CLINVAR:13118 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d4467c1-bf9c-4654-9a0c-5b991dc61365 CLINVAR:98860 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d45b842e-9d24-40a4-a772-9995dd604ac4 CLINVAR:98860 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bba7f936-21b6-4e3b-b52a-0670c48a1957 CLINVAR:98863 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c99086dd-9b2f-42c6-ad07-0e88448679e4 CLINVAR:98863 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dff8e25-0d49-496b-8990-32bbdc5e151a CLINVAR:2110257 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b865001-fc5e-4c22-aef4-c7d93064dd0f CLINVAR:2110257 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5db4e5cc-3056-415e-b018-fc64ec487383 CLINVAR:372493 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd7cdec2-9ebd-4c59-b48d-16110b041798 CLINVAR:372493 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5af7b279-7444-41a9-84fa-73d5c6066cb3 CLINVAR:98898 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a71534d7-8fb7-4493-a957-dc18b8496e8a CLINVAR:98898 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72fd42da-e144-413a-9d6e-7ccd7280c92e CLINVAR:559521 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8bff2065-1c08-41e5-ba6e-89857db84100 CLINVAR:559521 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7bad8ea-7635-40f1-acee-e380991494de CLINVAR:427864 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b4b1465-39e1-43a8-a4e1-e59e8e7ac1da CLINVAR:427864 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c0c2ae9-b719-4d0b-9986-d644b5a5f442 CLINVAR:29870 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a652e30f-51b1-46b3-a57d-c5e24b3e9497 CLINVAR:29870 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc940893-7c9b-46be-8084-6476a1d3aeb8 CLINVAR:29872 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2597b46c-4dc3-4686-a3eb-264c75de7eca CLINVAR:29872 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3eda3b64-1caf-4740-a63f-a67e9986fb52 CLINVAR:374497 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d97896bd-9a67-4e70-9b52-3f097556b802 CLINVAR:374497 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00ba4daf-e1ca-441d-b474-5919d2a71cdf CLINVAR:744318 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f081824e-5d1d-4339-a48c-67b3e30be31a CLINVAR:744318 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d80246bc-26c0-42f6-b0d3-8e2dc353eeed CLINVAR:560497 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17fe9b84-2a62-4845-8568-c1bcb504a78e CLINVAR:560497 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c55c4fa-8bb7-423e-a2aa-eed73134796a CAID:CA500436058 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1f07ce3-fcd7-449a-aa97-6c9ec4b86ebc CAID:CA500436058 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31b330c2-5326-48ce-b436-3328779e259e CAID:CA500651220 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d57929d0-ed89-4b19-8aee-b65e8f848d13 CAID:CA500651220 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21385370-1ec9-4c23-8f4c-4f6f9f45ce97 CAID:CA399791611 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d74a0e0-3298-440f-8425-df210809d894 CAID:CA399791611 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d09d6631-e440-4369-a744-1cb6c2467d33 CLINVAR:98826 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72991308-2dd2-4f57-aade-2b438fccbfaa CLINVAR:98826 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f98a3784-9b38-4e2e-8423-30c43d748265 CAID:CA399803382 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b5bdd63-fdbd-410d-8de9-2eff028fbc9e CAID:CA399803382 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d254add-9104-4ebe-af30-aeef95eddbe1 CLINVAR:3242391 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 652623d4-4d4b-450c-9c55-dbe04433c84d CLINVAR:3242391 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aec3905-814f-46b5-84a5-2c030a107415 CLINVAR:1677036 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a95f0614-2c4f-4d81-8c3e-f7836f0655e3 CLINVAR:1677036 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d611a34-16a7-4efa-a354-d563faf6f584 CAID:CA2497030194 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03311f3f-a8e7-4e1c-a34b-d25e9ad2d07d CAID:CA2497030194 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 235d58f8-3515-460e-a431-e4b8825d2784 CAID:CA2579753976 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a699a93-06f6-4eac-beee-dae451056b40 CAID:CA2579753976 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fb3266d-081f-4982-92cd-4db58b98ee72 CAID:CA340747756 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1e8d2e67-a334-4ce3-9309-d42cadb851e7 CAID:CA340747756 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a05f0ada-57c0-4dcd-a863-a38b1db617bf CLINVAR:801497 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 010e14e0-fb31-421e-a1db-964760112991 CLINVAR:801497 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86eadcdb-67bf-4a16-839d-deffe8efc3a4 CLINVAR:1117757 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c55bb70f-e003-47b1-9d68-95937a6ead76 CLINVAR:1117757 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d304c0f8-baef-4f21-b837-3717832af293 CLINVAR:1468758 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a6b7e36-468f-4e7d-a1f7-87e5afaa9efb CLINVAR:1468758 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 395d2951-81d1-413d-a42f-8f5558f299a5 CLINVAR:875116 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7502ee4-a6e3-4480-a56d-55105a72c28b CLINVAR:875116 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e47102c2-be68-45d9-be19-cc9da2501953 CLINVAR:13120 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69b5721a-06d2-45d8-a902-fc380fcfdaf0 CLINVAR:13120 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e3f5d44-10d8-40f8-b730-15a5205e20e6 CLINVAR:1438062 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ceb6f17-3ee0-4ad5-9b40-825e1a16d140 CLINVAR:1438062 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afadca85-8118-409e-b00f-bbd8e3a1e6ad CAID:CA2580612187 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen acab9693-a56a-4f43-ab6b-71e5a241fb4e CAID:CA2580612187 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b72f3b55-afcf-4fc0-8f20-8d900c188e2f CLINVAR:98857 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen acfe39bf-e480-4823-9a7e-df8b81015809 CLINVAR:98857 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9a32515-41ff-4bf5-b47c-b88ed21a4400 CLINVAR:1030779 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ffdd277-710e-44a6-a978-47d40b350d9a CLINVAR:1030779 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86a35242-9584-4084-adc2-ca637c586e29 CLINVAR:1068757 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1fbd5c4-0cbe-4ebc-957c-a452f6db6956 CLINVAR:1068757 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d3028d5-e2f0-445b-a28c-05c0e9cb4288 CAID:CA2586966742 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d031c15f-a804-45a7-8683-e4ce7937a314 CAID:CA2586966742 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 394d7a4b-136c-4183-bd8f-d18b1af6c5ff CLINVAR:870343 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 504c1efc-1f03-4217-9a42-127b36bc91e9 CLINVAR:870343 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddcf31e5-4938-461d-bb79-187b9ec09535 CLINVAR:98866 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65d17999-b0fa-4ab0-b7c6-029a8b3be665 CLINVAR:98866 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07669ef9-688c-4d66-948b-26ec4678f6fb CAID:CA340745588 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97f32fbf-a397-4183-b514-2a136c9690e1 CAID:CA340745588 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36d73208-80f9-4eb9-9305-4474f8d35350 CLINVAR:488726 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13cde5d8-c43d-4851-9ef2-974cb44ad913 CLINVAR:488726 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 443fb0e4-a005-4060-abff-d352c9738eda CLINVAR:1901178 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e60bb8f-be29-46d5-8699-b852bf83297c CLINVAR:1901178 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c1aa928-f655-4c79-ac3c-b56f1e63abd8 CLINVAR:984454 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc6ac3ff-52a4-4d5c-aa18-dd54696564f1 CLINVAR:984454 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89e3cd83-b803-45fc-ab8f-0611d54e9415 CLINVAR:933853 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2098fbce-5f23-4e0e-ad5e-a9d9053af0fa CLINVAR:933853 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3a36964-9021-4c4e-b297-78ee35560afa CLINVAR:1459771 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0093a51c-3060-43c1-952b-cd2189a1e421 CLINVAR:1459771 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eca8c14e-f2ae-457c-9b4c-98d37f94d451 CLINVAR:863482 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a29824f5-fd8d-42ac-8671-8b6a26e9e8aa CLINVAR:863482 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 529e815d-809f-4ad7-8d24-2e2a205c87e3 CLINVAR:519783 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd2e4143-1179-40f2-b05c-fdea3dec2128 CLINVAR:519783 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd30f7f2-ed24-4677-b8ef-a202b095b19a CLINVAR:632819 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d081dfe-9927-4bf6-88f4-9bb730a95121 CLINVAR:632819 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20fd7d7e-be21-46f0-98e1-033c684371a2 CLINVAR:495629 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ae82dd0-c107-4257-ab0c-db7bb7b287ee CLINVAR:495629 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 125c0e8d-98ab-4bba-815b-7649e8ec72b7 CLINVAR:42391 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d97b54bb-05e6-41f5-8022-ab28bde7898e CLINVAR:42391 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e09375e2-87a5-4950-88ae-0c750a879a6a CLINVAR:547334 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8f343d6-b8af-47cb-bab4-0f16dfd53fb3 CLINVAR:547334 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51891121-8493-45ff-a5ca-15277bf87b6a CLINVAR:570737 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 55fab4df-f4b3-46fa-8790-9d0f3bb0a122 CLINVAR:570737 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0bf957f-1d0b-4e46-bfb1-d99ff5d15cad CLINVAR:638559 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0373db6-3040-4801-b89e-68f04a965807 CLINVAR:638559 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a525e9a-60d3-442a-a0a0-7db825db752d CLINVAR:263898 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 36926523-123e-46d6-b6f8-f331dda3968d CLINVAR:263898 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69cc02a8-2c82-4c5f-a823-e241df159dbc CLINVAR:200167 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8d6d0a5-8004-4bd6-8893-3d24dc1b66b5 CLINVAR:200167 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0290e19f-5904-4d83-98b5-624c62800e60 CLINVAR:1746353 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 35f14de6-dc3c-4a2f-855c-ca8ca102a5b6 CLINVAR:1746353 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61ccd0b5-03be-4096-8845-80ab81cccb6a CLINVAR:1679555 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1fb06f2-e51c-435e-bb87-0582d9310377 CLINVAR:1679555 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6547c809-1a62-451e-9c1b-a6d91cb3650f CLINVAR:21075 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b9d20fe2-ead9-45f4-9931-764355d1c0c7 CLINVAR:21075 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f03ffbb-046e-4555-ae51-e076525290db CAID:CA367401686 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cfd93451-8107-4cb2-95af-696d747a2503 CAID:CA367401686 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbf99e5d-05d8-4872-aae8-62398623b17b CLINVAR:1746350 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 26be2220-00db-4ad3-943b-ea5bca6291ec CLINVAR:1746350 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21b7563a-e237-4111-8c3a-d379b0fe517b CLINVAR:198050 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f539a667-e252-4994-9d6d-a4c35f8ee329 CLINVAR:198050 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21c5096b-11bc-4710-9d12-19a5ba954f75 CAID:CA2580612107 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e32b96df-44f3-4045-a6e8-28692582cec1 CAID:CA2580612107 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e08f5f6-1575-42a3-a999-23b8e84712a8 CAID:CA409105441 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b70e17c4-2823-41b5-9026-fca6b3606fa7 CAID:CA409105441 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 577e93d7-49f8-4080-93fc-0e8b8fb75f76 CLINVAR:13136 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e4f7f3a-0a59-4c15-ae46-1785b41fa264 CLINVAR:13136 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd8a6199-a0c1-42d4-b9f4-418ad10b2cdb CLINVAR:418449 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 166d4b25-f762-4cb4-b247-41695ec0949f CLINVAR:418449 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ab7fc8b-abe7-4ea5-a342-0ea683030e88 CLINVAR:1050623 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a17bfc3d-190f-49a0-9a0e-7afe95b352d3 CLINVAR:1050623 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 625b3922-a47d-4277-acb1-761560f9bc15 CLINVAR:551588 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f1085cf9-2d48-4791-b271-56f33ca8f8f0 CLINVAR:551588 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27f5fcc5-b60c-4286-a094-e282212333ed CLINVAR:941268 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c79a177-b250-4e9a-b0ab-b87a04f164db CLINVAR:941268 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f25955ee-1fae-4c0a-888a-6325510b827b CLINVAR:449935 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0da9a8e-1193-417b-a10e-63b989fd25a9 CLINVAR:449935 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a88dfe9-1cae-46cc-bfcb-c513d2b51f12 CLINVAR:203597 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fce5c4dc-d1a5-47a5-baf4-06137dec9f92 CLINVAR:203597 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b899f008-e222-4999-8028-1b3fa0e88ab7 CLINVAR:617950 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da32fcf5-ff18-41b8-920c-5ba2347e4550 CLINVAR:617950 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11b2981c-3b78-4b27-8043-4e41575fa047 CAID:CA367398695 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc1fe5c5-5189-4ccd-9da3-255f78dfa4ff CAID:CA367398695 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff171de2-3139-4de7-acb1-fe32e708ec11 CLINVAR:36182 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9994361a-c5e8-40a2-b356-c39ffcc89312 CLINVAR:36182 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bc7f58b-582f-4196-888d-736bebd48fcc CLINVAR:36181 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 861b04aa-d48c-42b7-8832-77325bf1d0e7 CLINVAR:36181 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7896506c-f4e4-4b96-a7d0-190d70e9d087 CLINVAR:236014 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d91974fa-9cf3-49e5-8ecf-e9d680d9f846 CLINVAR:236014 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 492cd3b9-e44f-4e6c-ba8b-8cf00750f469 CAID:CA367398735 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3f1dbfe7-2906-46b4-b302-d6c2d00f62a5 CAID:CA367398735 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ff5cc74-809b-4656-b534-7a2b33401914 CAID:CA367398738 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60b22c20-51b1-418f-aaf5-f0126fa2391b CAID:CA367398738 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b750f105-32e1-4358-96e4-d1ebe7427af1 CLINVAR:39759 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 02f75a8d-7eb4-4c10-94ce-3367577b02ec CLINVAR:39759 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 863d5446-0791-4f60-83ba-4d8bc6e32e68 CLINVAR:1685327 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe98994a-e835-470d-ba11-a3399a79783d CLINVAR:1685327 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c889bfc-a078-43cd-ad2a-f5012d738280 CLINVAR:16134 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 50ab5905-0ac7-46ea-acd4-6872310f2b91 CLINVAR:16134 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec9f2383-7b62-448e-9b13-f663df930eb7 CLINVAR:393450 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 245874c0-7991-48b1-8e2c-d12890a95ad8 CLINVAR:393450 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3128e547-4110-478e-bc37-2b4564515de9 CAID:CA367400787 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4cfba2ef-48bc-4c42-b74f-06dc9672cb5b CAID:CA367400787 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59a8949a-a524-4b82-b31a-902539a3382d CLINVAR:447413 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 086c5e1e-a5b5-4813-aa39-fae0c61108d3 CLINVAR:447413 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fc2a337-c869-48b1-9a8d-59b9f235c6b5 CAID:CA367400788 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f2c31275-a469-4eb6-9d4b-6e1a642b6d8a CAID:CA367400788 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5305190c-724b-4586-9ceb-d887bf948b39 CLINVAR:585924 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd589ef7-5b4c-4419-9fa8-47e91a21d747 CLINVAR:585924 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96416d14-da55-4713-8391-7237b135b1dd CLINVAR:36241 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc465a7a-af5d-4903-82d2-cf16edeebba2 CLINVAR:36241 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f65c9c2e-37d4-4e43-8f79-c54fb914e2fc CLINVAR:1704126 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen edd40474-8276-4e0d-83d3-bd33d8fa698d CLINVAR:1704126 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9ecd340-a33d-4aaa-b473-a27af8ab53e5 CAID:CA367402147 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fcb13d46-e597-469d-a0e7-fa678577412e CAID:CA367402147 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2d1b9ce-5b41-45b2-be1e-77b7cbcb6816 CLINVAR:690481 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 668fd6a9-a592-4381-9f8a-3e74b6442bd1 CLINVAR:690481 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd1b7136-5f77-4c79-b7bb-8c254de1db29 CLINVAR:825804 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c004c6a-feb5-4fb4-acbf-4625bbc48c14 CLINVAR:825804 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2f5cdad-5fe2-40a7-9d29-554647b38225 CLINVAR:480386 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f663a7ad-72e2-4488-8937-9f27461dbc39 CLINVAR:480386 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42b1486f-8877-4419-b114-5f1674d74d43 CLINVAR:492727 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83d9a60d-7177-4486-b07f-e9df7ab9d217 CLINVAR:492727 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffa78cfa-642e-4467-bc1b-6d59c941f217 CAID:CA377781872 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4726b99-bd0e-4989-84d4-57e540597a01 CAID:CA377781872 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b0e50f3-3026-4085-8f4a-30253df5479c CLINVAR:936561 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cfeb26c8-30c8-4ba4-b75b-cc1f36b54608 CLINVAR:936561 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43c4a920-ba0e-4277-a941-d177aae6814f CLINVAR:1691744 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 31c79cab-4272-4b8e-8691-d8426f6b42f7 CLINVAR:1691744 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8e39cae-336b-49de-b67d-c3a5509fc6ed CLINVAR:1182096 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd826ed3-4694-4d78-bcbe-e6f3889f5ce5 CLINVAR:1182096 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc29d69d-0a70-4476-be59-a89c547fc70e CLINVAR:189481 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f17b26b-962f-4be8-b10f-599d01765f87 CLINVAR:189481 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d961ca1d-7ff5-46ee-b665-0b25da7177a4 CLINVAR:468680 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3992c512-bc4b-460f-a063-eb0cc7abe5bf CLINVAR:468680 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ddd8428-6953-430e-97a1-282bd2455c99 CLINVAR:967900 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0a495f9-0ab7-4098-8d4a-14bf73bca318 CLINVAR:967900 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffd9cd1e-0ecf-4c3b-b310-d67ec5febeb7 CLINVAR:13141 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 71db5662-668d-46c4-9149-f191f2fe97e9 CLINVAR:13141 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90f98bf7-3605-44d0-99f9-ecc1dffd1ad4 CLINVAR:2019436 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 116f1ac6-6fc1-4101-a0be-6e30ed2917e0 CLINVAR:2019436 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f260f710-bd4a-499f-9fb1-1c0ef20f749d CLINVAR:936307 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cdd8c59c-6e28-449c-98dd-48e90adeb491 CLINVAR:936307 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd706117-bb4f-41cc-a2c5-19aed4b11d25 CAID:CA367402227 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f78eac5a-c803-4798-94bc-1370420b0727 CAID:CA367402227 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf77c303-ba61-4713-bbb2-87e4f83a8968 CLINVAR:435307 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8118c218-ee16-4074-bb01-5968d98eca8d CLINVAR:435307 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 773bb9d1-7f88-4e42-8a76-59c96027edb8 CAID:CA915940582 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 261a47e1-e6cb-41b5-b2b7-7c68e2677156 CAID:CA915940582 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8ed9b70-629b-4bfb-88b8-590235e1a1c3 CLINVAR:323558 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04c981f3-3fdb-43b8-b0eb-80ce8b4f0773 CLINVAR:323558 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7fb3c94-d096-4f0f-871f-c17c0912d780 CAID:CA399805605 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b2e3593-5f86-4f72-882a-a104bd095216 CAID:CA399805605 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfc6b735-a49f-442e-a398-722a56d1b886 CLINVAR:892303 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9421ce0-4815-4ec5-94a0-f00d40f88fdc CLINVAR:892303 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23bc6fe8-b907-4312-97f2-b6dec3286bd4 CAID:CA400021913 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0174da07-ebc9-40e9-89f5-68a7b0339631 CAID:CA400021913 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1e1f4df-d9db-4247-8d03-966d27cb8303 CLINVAR:891087 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5cc3ee17-8028-4865-b33e-beb8f2acb863 CLINVAR:891087 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab482b0d-451b-45b0-8de8-67329bf457aa CLINVAR:627063 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ec62c234-3602-4c16-83ba-4196892a2895 CLINVAR:627063 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d521155-fbdd-4985-9a1f-abdc046ae176 CLINVAR:654335 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bac5689f-44d0-4f1a-9ab1-26602543f404 CLINVAR:654335 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98bf56f3-38f8-4cd7-8e35-af7617955251 CLINVAR:952576 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f85eb0a9-a24e-41e8-b1fe-7c09b8a80037 CLINVAR:952576 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17165efe-676c-4e1a-99e3-7770d448d293 CLINVAR:4673 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b6a8ac4-2de4-4d15-bad8-c0c3cf310887 CLINVAR:4673 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4a57b27-03e7-47fd-8223-4533fd3635d3 CLINVAR:1322192 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee5483c3-e882-48da-8e0b-45954dd5d0be CLINVAR:1322192 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d44c9ff-8acb-4efd-bdd1-b7f5cb60fb95 CLINVAR:657472 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c82213a1-e27d-4af8-a2ee-3672219e5f75 CLINVAR:657472 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cdcbb45-e1dd-4623-98b1-a9c0e3e99b99 CLINVAR:2136850 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7242cbcd-e183-4088-860d-0afdd8c2eff3 CLINVAR:2136850 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56602ae0-a7c9-460a-8a6a-a2f34b646dec CLINVAR:852821 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f805a57-678d-4988-9902-d0321404ad46 CLINVAR:852821 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbc55172-24ff-40aa-9f84-cfa618bbb6a2 CLINVAR:2150998 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2d0674a-1081-471c-a908-a5cf4a988e8f CLINVAR:2150998 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1729c829-7bb0-44a8-bdae-54ac1ca1da7f CLINVAR:1041357 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22fa5890-baec-40ad-ad68-8d3d6ee2d935 CLINVAR:1041357 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5102712f-2809-47e4-9c68-4c051eee1f57 CLINVAR:556878 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d273bea0-ba68-488e-a801-693b5dd00fe6 CLINVAR:556878 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2359d38-748b-42b1-ba06-01a89ff771b5 CLINVAR:225196 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88350db6-3466-4761-aa98-2717b1363ded CLINVAR:225196 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76259e2f-ec43-4a1e-aad2-f9a22369f965 CLINVAR:225194 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be7dea92-cbf7-47da-b5f5-f063a30235a9 CLINVAR:225194 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09f51cdd-251f-4432-8e59-03cf40ff9c08 CLINVAR:947759 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3eac0ad0-1b3b-4ed1-8ce8-984197e46dcf CLINVAR:947759 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45a1afa9-8490-4a3f-b7a1-bc6d6b70cc99 CAID:CA413496512 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da7d5293-0d32-49ca-87c0-e2781cbccb29 CAID:CA413496512 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d7e0d16-6ba9-44d2-9b49-ec9d262929e9 CLINVAR:3028906 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a58c5a8d-a358-48b2-9265-9b34d5955720 CLINVAR:3028906 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88f0c329-c860-4c75-9a1f-8bb2320bd62a CLINVAR:3028907 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0196dfc2-19ea-4f68-9646-dc79762134a7 CLINVAR:3028907 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f881a3f8-075f-472d-834b-9784dac4fbcd CLINVAR:585919 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2261f76c-3305-491d-967d-b17486f67d73 CLINVAR:585919 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4acf946-6c0c-455c-9931-bc4b1e25538a CLINVAR:973191 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3fb82e14-9cb8-4338-bf7f-3916576264cd CLINVAR:973191 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d81b5b7-1ece-4108-962c-6759bddd0dbb CLINVAR:447397 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f35b063-4961-4de4-94ab-44792e524e39 CLINVAR:447397 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c779401-6539-4928-9693-745c8d933350 CLINVAR:522504 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a09bc96e-9227-42c7-a4b8-2f4893f16554 CLINVAR:522504 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c9bb50b-2a12-49aa-9acb-fe3fb38a4fea CLINVAR:162369 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 990416a5-32bc-4a10-9bf8-95d2fd3b7079 CLINVAR:162369 biolink:is_sequence_variant_of HGNC:7475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 049b7d5d-d3f3-4138-885d-4b3d32b8ec2d CLINVAR:9654 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5fcbca67-171a-4015-a0ac-3e8d0b72520e CLINVAR:9654 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b3a9bca-bacb-47cf-991b-0c0e9d8161c4 CLINVAR:9669 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5064f621-a8b9-47b6-af0f-94ecf18420ee CLINVAR:9669 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a93c8dd-1883-4245-963a-89319587a2ab CLINVAR:9668 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4cd35a82-7e22-465d-9581-a6c4d00f258f CLINVAR:9668 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd727b60-dcd0-4cd8-9d9f-1fecbf09dd3b CAID:CA367402547 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f174df9-dbfa-424f-9e54-1012b1c13323 CAID:CA367402547 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7c8ce61-2f49-4d4f-b19e-845ede596558 CLINVAR:407115 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6773d8b1-7ffa-4353-9f62-caf2e01a6d06 CLINVAR:407115 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3be74a82-1466-413c-879a-31e330a5e8ac CLINVAR:435060 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c3d6e581-5aaa-44d6-b43f-e943dd2bfe55 CLINVAR:435060 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa4a2e69-6ca2-498d-be6f-df42019b1a07 CLINVAR:282707 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9bfe2be-5452-4386-8f38-1ce8f07d4235 CLINVAR:282707 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c57a7372-ea9e-472c-855f-b7ceee416784 CLINVAR:458346 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69cb3c3f-9be0-4c61-8cc2-35734d36fd33 CLINVAR:458346 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4abc9757-8a26-424a-a76c-d3c787958582 CLINVAR:618625 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1cc0894d-5ada-4506-9a30-271eff08f298 CLINVAR:618625 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a79d858-d4e9-4cd3-bcbd-b56c408ee1a8 CLINVAR:1352569 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2409203-a14c-4b7d-a4f2-306a5d234ea8 CLINVAR:1352569 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 753a2a4f-cf92-4e3c-a2fc-5b0fc978f500 CLINVAR:426118 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1bcce55d-10ec-47ba-ad42-0578858b047f CLINVAR:426118 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81612a6d-296b-43bf-ab3d-ed549347f1ec CLINVAR:565574 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e23ac283-2940-4e02-9469-fda2c4e2c191 CLINVAR:565574 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8bcb4c8-f49d-4982-92f9-68c39cefc1c0 CLINVAR:414302 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89c75df2-bacb-42e4-9616-6263b5c2d87b CLINVAR:414302 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd240702-503d-4ad4-80a6-ca68c2743bea CLINVAR:8243 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f2ca226-d77f-4f2b-b8b1-27c287e0cbe7 CLINVAR:8243 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7ec67cc-1876-4dfb-bac1-643629724bf3 CLINVAR:1744752 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c238eb7-b8af-4f3c-a6dc-042b19f3499f CLINVAR:1744752 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 543c8599-2b2a-437a-b69d-cdd197f5076b CLINVAR:811065 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f382bfd-28c5-40b1-a193-aa0f7d4a58ce CLINVAR:811065 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21855100-04b5-49eb-babe-e6a09ec3043b CLINVAR:657805 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bafc36a4-d6c3-4a41-a67d-fa9fcff94401 CLINVAR:657805 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47afa3f5-5421-4769-96d7-4346d103b450 CLINVAR:994236 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f46c8ad-ee1e-4956-bc2e-3f11032450bf CLINVAR:994236 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4909f886-3776-4b98-a85a-65c8eb6861cf CLINVAR:848699 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e3b43be-0785-48bd-ae62-2af5449d74a2 CLINVAR:848699 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55e987f2-8365-477a-abb9-f2a791264573 CLINVAR:212802 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 691902d1-ec7e-4412-b0e4-d73b42471746 CLINVAR:212802 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea512772-0cd5-412f-a473-2cc08d30b48d CLINVAR:1948619 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00311b37-bfe6-48e9-9809-53f448e5f15d CLINVAR:1948619 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5056d26-e891-4b49-89cf-7de78cb919a0 CLINVAR:411300 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15efed2c-2e2b-4525-b6c3-037809fc488a CLINVAR:411300 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 674790eb-afbc-47b1-b72f-bcea027d0ddf CLINVAR:426040 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ae2cd6b-149a-44ca-8523-d3dc09811b4a CLINVAR:426040 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2869f123-75bb-411d-924a-e25658700900 CAID:CA605238909 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2e4d2c9-b6ee-4b2e-bbdf-d6803e5bc449 CAID:CA605238909 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6350ade7-67ab-4eef-b5aa-3b314cf3f224 CAID:CA2740089968 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5016c86-1e26-433e-8a02-7b6f700d9401 CAID:CA2740089968 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a29f6c9f-26cb-4419-8138-b9351ad3a734 CLINVAR:237027 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc2d0aff-83fb-45da-80f4-20c141e36a2f CLINVAR:237027 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5028fb5-eb28-4df0-87d4-f3e49eabb943 CLINVAR:9664 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec5b4dd1-1b63-425e-8e0f-765731c99793 CLINVAR:9664 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c8367f3-056e-41ee-942e-cf89532489dd CLINVAR:800503 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ef0229c-12d8-4996-a02b-2a8684c8376f CLINVAR:800503 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adac2f27-00d6-4d15-94fa-403c10df445c CLINVAR:9686 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 81f35ecc-899f-4f7e-b6d2-f48eb728f4ba CLINVAR:9686 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 521acc98-ff05-4525-9af4-18df8bcd7a9a CLINVAR:693440 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2f120b0b-1c80-49bb-8a77-febdf0587040 CLINVAR:693440 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2466e3d8-b99c-4371-9a9a-7596fd50e6c4 CLINVAR:156375 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d2e814a-be53-48f0-870d-02309f0c8db2 CLINVAR:156375 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05605a45-2734-4963-8ae7-a9ddab98f48e CLINVAR:9604 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94775194-5345-4a02-a74f-0d647daefc8b CLINVAR:9604 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13771b05-dfc7-49be-9ed8-850e2bbf201e CLINVAR:690169 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b1f6d34-f2eb-47fc-a28b-98dda0f52dcb CLINVAR:690169 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdb51e20-0286-440e-a7e2-80540597c939 CLINVAR:690161 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 916ce37a-1235-4439-8a5e-e66a999d09dd CLINVAR:690161 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4d2e741-f624-4ac6-ae25-b06023055620 CLINVAR:376098 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66268cd8-41e2-4b45-8bae-a7332da4ce04 CLINVAR:376098 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27346ba9-4ea2-4fe4-99d4-d0d6d38cded3 CLINVAR:451690 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fde4947f-cc95-45dc-9fb6-a6901a870f03 CLINVAR:451690 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0045b840-2ba5-4c38-9d37-4a7c90a4b340 CAID:CA367402001 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b16f5d0b-3484-4cbc-ae18-4a9dfaab03f9 CAID:CA367402001 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f718d47-e94c-4e52-af38-7000f621c769 CLINVAR:36218 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c41321da-641b-43c4-bd79-dfca9ef4fca2 CLINVAR:36218 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9d9ac00-e152-49d8-a1f1-4f4ec132b133 CAID:CA367401942 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00cf9537-9baf-4fed-8751-573f5634dc82 CAID:CA367401942 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df3e9f2f-6bac-444a-976b-ac1d9fbd7cf8 CLINVAR:3066429 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ef6a28a-3ddf-4651-a357-97e41f200976 CLINVAR:3066429 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d36739e-88cd-4277-9ba7-14b973e5339f CLINVAR:3066438 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98d6bb88-d7bb-41c5-b032-28a95b2b8904 CLINVAR:3066438 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 499f3af7-bbdc-4ecf-9369-4f0d3cc87b86 CAID:CA2695201729 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff043fdb-1274-44ce-baf6-b5dfbf5d6d3f CAID:CA2695201729 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a978afd4-5119-463d-9733-b3bfb311cfee CAID:CA415079810 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69b997b7-6ca1-4014-be81-f4b317b6b636 CAID:CA415079810 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88fe040a-0717-4da6-99e1-68269f4b309a CAID:CA2582121421 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a47aaf8c-01c7-4c69-b799-cdafbcadea5e CAID:CA2582121421 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2af7237b-24d3-479c-bcd1-be976a6f2430 CAID:CA2582121298 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5f268f9-8e1b-4cda-9b87-e078a11e3620 CAID:CA2582121298 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbc56595-68b4-4316-856f-85a2997351ae CAID:CA2582121175 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a59522c7-54f8-4604-886b-81f39d722daf CAID:CA2582121175 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c11c5910-abdc-440e-9677-8b935b8acbb8 CAID:CA2582120572 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76df9c0f-e7e4-4d62-9520-34a6bdade1fb CAID:CA2582120572 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f773f84a-64d6-4e30-942e-2be7f741d525 CAID:CA415083182 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 049803df-3a91-4fab-ba1c-57240e6f2100 CAID:CA415083182 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5ed52fa-a6f7-42c3-bb34-5d7ff6096f86 CAID:CA2582130583 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d9efdba-e2d1-460b-b252-0ae1fd96652f CAID:CA2582130583 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab1dab01-4697-40e9-a778-6ae3b5e08b1e CAID:CA337220546 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf5e8770-9735-4293-9e4c-53ef4150cc45 CAID:CA337220546 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ff995fb-e151-4a9f-bb80-bdf67303fa27 CAID:CA415090852 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0ba9cb7a-7425-4786-af4b-bd49508332bd CAID:CA415090852 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13653c22-6bf1-47ea-8307-6f6df57d2cef CAID:CA915940480 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97f79b08-6069-4e98-ae6e-403af94a79f1 CAID:CA915940480 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef1f7884-7b31-4f6a-bf57-b7a8cf5d4aa9 CLINVAR:11704 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e6eb0ea7-a1da-407e-850c-c8f640d5ba7b CLINVAR:11704 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 511b9b5e-e5c6-46ac-af35-224f245e0eaf CLINVAR:1303056 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a34d5ce4-6fca-4f63-b99d-d6e4729edfa7 CLINVAR:1303056 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb77f86e-7088-40eb-baaf-3fa13f10bd7b CAID:CA415084403 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e6e5faa-a17d-4c6d-b38f-1d7480423f69 CAID:CA415084403 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb518714-ca00-4b41-aaf7-95b38bed0007 CLINVAR:2138757 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c2488d0-7d6b-4d87-ac81-34861d1b965e CLINVAR:2138757 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0416dcd-5ca7-41b2-86a1-59a7dbb83867 CLINVAR:92288 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa355bea-f81e-4a7d-b4ad-6809858b2c59 CLINVAR:92288 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7df8b47-efb5-4c43-a717-1ccc715bf75d CLINVAR:432108 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a72716f-b98d-4b8b-bef6-94b4fbfe49d4 CLINVAR:432108 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c65aa408-0378-4e71-a114-f5eb8c113bef CLINVAR:426278 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c2f8a135-2fb6-47c7-9555-b060991fa7be CLINVAR:426278 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a3f1080-c031-43ef-a7ee-82099d766c29 CLINVAR:92472 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34e54ea1-3529-4919-bb29-7fff677c08e9 CLINVAR:92472 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ef4cf27-443f-46d3-ba24-d91f20f16d43 CAID:CA401366522 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 03d89325-0fbc-4f3a-be51-9869856c04a2 CAID:CA401366522 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef81b697-90a1-4508-898c-a8258699a286 CLINVAR:1695383 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13f3dbb3-1c3e-47b7-ae22-89044eff123e CLINVAR:1695383 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24af391d-33ae-43e1-98ad-8bb21e30f2f0 CLINVAR:1363605 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08513d59-fc7b-4df1-b6b9-85b29e09d3ad CLINVAR:1363605 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92496e4c-df14-4041-9d07-77dae4236d80 CLINVAR:1897839 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72d3381f-be0d-408d-bf33-9da940b33c8c CLINVAR:1897839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13b9a72f-0c5c-46aa-8f18-b8607471bd8a CLINVAR:2024194 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen afa3a6ab-6673-40cf-ada2-fd9d5dadafaf CLINVAR:2024194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa0525a7-c59a-4aba-9da9-4635e7d28752 CLINVAR:2018650 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8897d458-9274-476a-afc1-9e37e5e12fe0 CLINVAR:2018650 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5372a40e-deea-4777-b5b4-dcefcb80a33a CLINVAR:1996224 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 381d0d8a-42d1-4e1c-ae65-19e8641a0a98 CLINVAR:1996224 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc9c7cf8-4b14-4921-b31d-6288f000c09c CAID:CA1139771135 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 217ceb35-bbcd-4434-b2ed-5caeb65dbeca CAID:CA1139771135 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec8bcffb-f99e-4908-a10a-a801d87919a1 CAID:CA410203348 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2fcdacce-96f6-45a5-a6c6-970bc292732d CAID:CA410203348 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 651162e9-90fb-41ed-b39a-3c7fee9caf88 CAID:CA1139771058 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dbb9f7af-c012-4663-9158-0dd340c3077c CAID:CA1139771058 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8770e171-da1b-4111-9a7d-854ec2d9a1b3 CAID:CA1139771067 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92b5d2ac-aff3-42af-a65e-3e4080e8449e CAID:CA1139771067 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22b7564d-17e7-4258-b8f1-5392cc23dae2 CAID:CA1139771059 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 50a4cabf-01b8-467d-b057-37e40529b61e CAID:CA1139771059 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a026e93f-05ca-4c77-aa10-bc9c7137571b CLINVAR:972746 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2a0f17b-d8b4-49b2-805d-b130601dd0c9 CLINVAR:972746 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 292e3e8d-b9f0-4da7-9427-b40e4234acd5 CLINVAR:371277 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 17b077c8-1ba3-4581-bc42-499f541c2757 CLINVAR:371277 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e65256d-b62a-4df2-951d-eb4cb5c9071e CLINVAR:1219617 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8517d9d6-606e-43c0-937d-6ac420a787b7 CLINVAR:1219617 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 468ce2a4-3572-499c-b2b3-f737804b8f7d CLINVAR:555998 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2fa50b0-be43-416a-bd69-897fae061757 CLINVAR:555998 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b770bf3-46eb-4812-8d9d-6f6249b48492 CLINVAR:370278 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a9b78b08-3bc6-4dda-bb0c-95d910a56620 CLINVAR:370278 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40f31c93-387a-4f31-a240-836192a958dd CLINVAR:692768 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 116288fb-3c36-4814-a4af-d33a90c15d9d CLINVAR:692768 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 355f65c7-8013-4ba0-924e-6eed5f9c0720 CLINVAR:42227 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 960e5170-4b86-4231-be44-31620669c0da CLINVAR:42227 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c144f6ed-e62e-48fb-ac5f-ef18c1903da7 CLINVAR:9719 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b281f7d2-199b-40dd-aa03-ca04202dd36d CLINVAR:9719 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1214f3d-6651-48bd-a10a-1adb857a1beb CLINVAR:9697 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1dc05128-2d5f-4eac-8fb3-b7b5b907a6d9 CLINVAR:9697 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faf35d43-d7d9-426d-8773-c5315e251972 CLINVAR:550716 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f3b4ed01-6814-42ef-80e9-28e8d3631647 CLINVAR:550716 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0851a86-0005-4ac9-a7cb-1ede1f842f1e CLINVAR:188480 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09131560-0b45-465d-8195-f1daaf0950a6 CLINVAR:188480 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 185692a6-1f35-492e-b08f-76469e39ebe0 CLINVAR:971945 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ed89987-b049-456c-be34-9f812dcb537e CLINVAR:971945 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ea53376-ab27-41ce-84f9-166566509b33 CLINVAR:280956 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen edbdd635-23d7-40b3-b626-575a0c5fed57 CLINVAR:280956 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6730572-6667-4f84-847c-e31927e9a0e3 CAID:CA415088272 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 991f2527-275f-49cf-af78-6f30f6dbe926 CAID:CA415088272 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10f4719e-22d5-42e1-827f-349c28005d72 CAID:CA645287847 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8af51c4c-a954-475c-8fff-f825c9387a68 CAID:CA645287847 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e38fa1fe-753e-4069-a888-567f7b3c0e4d CAID:CA2582131482 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b357d4a8-66d7-4026-a90b-8e783d8b95a9 CAID:CA2582131482 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66ef6e62-dff2-48f5-aa5f-5bde4cb14c4c CLINVAR:44729 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3dc76103-9657-4451-ad1a-83c07f50547b CLINVAR:44729 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32b2e21c-10b3-4f88-ba20-ad789fe14928 CAID:CA415077715 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6beccfba-8227-4627-b390-337ce0444b34 CAID:CA415077715 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd020271-c238-4f12-bdb6-66e48d52875b CLINVAR:2290132 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 035cc723-a3ac-45be-8a35-3dd092c6b15b CLINVAR:2290132 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a92fd36e-f150-49ea-9256-7472e90c2ab5 CLINVAR:551915 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10980a76-229a-4cb4-8d35-e35d4438338b CLINVAR:551915 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cbbc338-8a9c-4045-a94c-9327fe17c38e CLINVAR:2070085 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e59b9989-b5c2-487e-addb-51be5bcf4484 CLINVAR:2070085 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e3d498e-2d11-4de5-8d34-62e330b32084 CLINVAR:3066433 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a6337ca-70b7-4655-9743-4e4ab7890c59 CLINVAR:3066433 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a73213ea-51de-4e5f-b4fa-0d9ebaa588d1 CLINVAR:11697 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10bdfb6c-9b5f-4878-b2cd-499b3381b366 CLINVAR:11697 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42a703ea-a375-46aa-b2d0-471cba415bbe CAID:CA415086358 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 944d2bfe-0484-4075-8247-d8117f1bf5c6 CAID:CA415086358 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e350af9f-df6f-435a-8d01-21703502dcf2 CAID:CA415086460 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e693e12d-ff52-46d0-8e5c-927e718ea4c9 CAID:CA415086460 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d94b61b-713a-4885-8445-6c2c6e0aa486 CAID:CA415086677 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2390dc58-1f08-44f2-ade6-0596cc726694 CAID:CA415086677 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdc0bba4-795f-4c7f-8eb6-7a081bd82288 CAID:CA415087081 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed195dd4-3173-4ba2-b7d1-d34e1bd456cc CAID:CA415087081 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d54a4f5d-2b5e-4cac-b10e-4af2a63a0231 CLINVAR:3066439 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39acf419-2787-476f-8c9b-ea447541c02a CLINVAR:3066439 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee494e1d-4207-4698-84fa-f8583bec2b46 CAID:CA519344969 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd78682a-8db2-491c-b0ca-101d482ad2c3 CAID:CA519344969 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 802cb05c-976c-4afe-89de-95a04c84ead1 CAID:CA2466438179 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3dd2433-46dd-496a-a11e-cd413003b7f0 CAID:CA2466438179 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c91a4ee-a83c-40df-9107-cb682af56ded CAID:CA415086699 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b56c348-85c5-45b7-be68-1eafc85d6fdd CAID:CA415086699 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ba13017-2b0d-4559-adff-a9562ae1fcb0 CAID:CA2580617569 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7fa7f299-797c-45c1-9dcf-db56703fdc95 CAID:CA2580617569 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9596d0b-8c14-44f5-bc73-4da6cce04534 CAID:CA415083128 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9b681572-6399-4e45-8c51-f1291ee3a554 CAID:CA415083128 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9543129a-dde3-408a-84ea-7de949bc43f8 CLINVAR:804101 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a796f62d-9b9b-49d9-be0c-48f73ff18572 CLINVAR:804101 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d27bd8d-27ff-43ce-b340-30351499fffb CLINVAR:1802549 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8880994e-0226-456e-8ec0-3660ccdffd54 CLINVAR:1802549 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e615edc-68d6-443a-8f7a-47445fdce327 CAID:CA415077156 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56f00e2f-291c-4605-8f4f-7952031011a9 CAID:CA415077156 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bfa6c31-2c20-4b6e-9c61-1365f757da09 CAID:CA2579985607 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9f0ada7-5aac-4009-a0f4-a28d565585a4 CAID:CA2579985607 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad14a83a-d222-47d2-8368-925d0a98774a CAID:CA415075833 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f39c40f-2b82-4574-b35f-2ebb06cb717d CAID:CA415075833 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6734822-c331-44ef-a30b-ee457b927f69 CLINVAR:1256306 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d10bb52-7019-4ec3-8f09-b122bc5dbb9a CLINVAR:1256306 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 887f58be-d4cf-4f30-a825-cd9c06188833 CLINVAR:585920 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9f2df6e-1c24-4982-be8a-06ac21d7ed43 CLINVAR:585920 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee042b3a-9356-4611-b9f6-2008e01515fe CLINVAR:585907 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b27e9d68-cd50-45e0-89a8-275055bfaaed CLINVAR:585907 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4c6f59d-6b8b-4d05-8c33-e76ac8acca11 CLINVAR:447378 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 565fbc1d-3c9c-4337-8ba0-1f48d6913c23 CLINVAR:447378 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 270218d0-28b3-435d-9c13-7c71dc4b63c4 CLINVAR:36170 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01e7defc-2bde-4599-abe3-f101ce34f70f CLINVAR:36170 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2a3b2bf-fb65-42d9-b5b3-0b30686127e0 CAID:CA367400138 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 943a0ce1-ebce-4072-8740-bef96f1f71aa CAID:CA367400138 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e95c8ea6-9f49-41bf-b5f0-95b3f1d786f7 CLINVAR:393447 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6bff5643-b1d6-46f3-96c9-1b27b3f06825 CLINVAR:393447 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0b21b46-1315-4895-9b30-5cae129830d4 CAID:CA367396861 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b456dac5-c44c-40fd-86d7-dddf265a50d1 CAID:CA367396861 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1269389c-7982-4c1e-aafa-7ead519b82e3 CAID:CA2740067583 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1a81fc0-74cb-4ec7-b434-ba038c4dca22 CAID:CA2740067583 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01733dbc-6612-4216-a719-c4a2d1caa262 CLINVAR:1683587 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5739d60-bcaf-4f0e-8549-75a4cb5cd79b CLINVAR:1683587 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34ec8706-e6c9-47f8-bc69-0c6c02135462 CLINVAR:800346 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen efa4ab32-4b51-4622-9909-4162dda02b48 CLINVAR:800346 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2b788c1-b907-4bca-882b-36c18ceecccd CLINVAR:496628 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bfd0d72b-8e4f-4697-a2aa-dfddb86c4627 CLINVAR:496628 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bac42292-1944-4b28-99b7-40cb42b18a3d CLINVAR:36718 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba300f70-280e-4e79-8b5d-4fcbd1c998c9 CLINVAR:36718 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c82cc385-d50b-4d50-968e-abc53e78cc3d CLINVAR:36717 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7852c203-e690-49a6-b730-eae297d78b7a CLINVAR:36717 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40abb865-2a0e-4809-b99d-a308e00ff261 CLINVAR:304553 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dcb2e1b7-6d68-487c-9b0f-01e254222248 CLINVAR:304553 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 686f9512-bc9a-441b-ae7e-2bfa2659433d CLINVAR:496624 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 456c71bc-628e-4c06-ba3e-3674c583d3ad CLINVAR:496624 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 541a46a7-7e94-4876-b3be-8541ebc44368 CLINVAR:971474 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33e3d9b7-865c-4f9a-a539-7dda4bc07a40 CLINVAR:971474 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 766b5d51-5e78-41dc-afcb-5f75b106c69c CLINVAR:1015912 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb290ae5-538d-4bba-8f9e-a9f63cd81f8f CLINVAR:1015912 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b821434-9c00-4da5-8ce8-c5ce6eb9b344 CLINVAR:1035293 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c40b922-d7f7-41a3-83ac-76ace3a7eebe CLINVAR:1035293 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a8c3d96-cc7c-4562-88c1-78a9da5d0a76 CLINVAR:661326 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c0c95cf-ec8d-4e36-99cb-a46924825c74 CLINVAR:661326 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d38cfca-3ed3-47e0-8f52-de57105f3d05 CLINVAR:2062424 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f501e53-07c1-48be-bb92-173584df3dc6 CLINVAR:2062424 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab28756f-6826-4b85-8729-c1f481837f64 CLINVAR:958156 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a84003da-3c07-4098-bdc8-6e5421932079 CLINVAR:958156 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bee12268-b0bc-401a-b0ca-28850f5d9d5b CLINVAR:1936229 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb4fc9ed-6cb3-4320-9e22-07282eac4750 CLINVAR:1936229 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aac48cef-9398-473c-91f7-1da151511609 CLINVAR:1199335 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 420f24e0-ce4f-41cc-8376-193d3e6fbab7 CLINVAR:1199335 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf4a78bd-c501-43d0-91da-80f38f7ecaa3 CLINVAR:860679 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 863a4b8c-37d9-4983-a31f-502dbaa53b10 CLINVAR:860679 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2fe7f73-543a-44d3-b4a1-c306de1e4d8b CLINVAR:9723 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d046b583-d675-4853-8ddb-987bf2e9dc1c CLINVAR:9723 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1640003-601b-4736-a7da-95e2f02c3a24 CLINVAR:2138345 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 73f04817-baa9-4508-9e3b-5e08b994710e CLINVAR:2138345 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33fa367b-5bd0-4593-9d9a-521c60b87217 CLINVAR:134574 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 914558e6-deaa-4f8e-a4a4-f34b4fc2673b CLINVAR:134574 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 612d655e-4064-4c7c-b741-91528092ac2c CLINVAR:1406981 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 57232f86-f5cd-4223-b995-7b05b59c46e7 CLINVAR:1406981 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbaac484-978c-41d1-89f3-d611cf575b60 CLINVAR:1068640 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63363c9a-24ec-4164-b1dc-1ef90b0aa3f2 CLINVAR:1068640 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 190962c6-5a97-4bea-9897-56c1a74dbab1 CLINVAR:714463 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eff709d0-76b8-4fba-aa70-cbd261ef855f CLINVAR:714463 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be266382-5465-4438-8350-6080d9950a7f CLINVAR:994900 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d54180dc-dace-4e00-a9be-9f744dfdf0cf CLINVAR:994900 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e1c66c1-0091-4df4-8708-9b5c8dd05f31 CLINVAR:524154 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 328a98c2-43af-4f15-af08-df992b659f5d CLINVAR:524154 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a307d2c-f99e-4838-88aa-0ecfefdad6b2 CLINVAR:3068533 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b202e56-9c38-47eb-9442-72acb3c904fd CLINVAR:3068533 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 132c416e-06ac-4ea2-9efb-9f867abdf619 CLINVAR:156152 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7bd49381-30ab-4b80-8fec-5964d2ba3521 CLINVAR:156152 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b4bd3d4-cec0-45ec-b789-b6f99912224e CLINVAR:372382 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75dd7af1-f413-4d2b-9030-7edb4d22560c CLINVAR:372382 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4415c31-14b6-42ac-b873-6c38308b6612 CAID:CA409103960 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e77d6605-b113-42f3-a379-bd91f7b64927 CAID:CA409103960 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 890c6320-2ed1-4701-bf73-4ed7959e1e93 CLINVAR:546494 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4281e146-d35f-4f99-b945-63c2a7cacaa2 CLINVAR:546494 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30ae15e6-81d9-4a75-814b-6e47fbd42a8d CAID:CA409103971 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4202f8a2-d567-4952-af2d-73e29138d224 CAID:CA409103971 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55efcdfd-3f22-4b30-b539-68d7e896b089 CLINVAR:435436 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72978690-61ca-45b8-af00-57dc44e0c691 CLINVAR:435436 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcc7ee63-0c7e-4dc8-b865-db8f22c6f2d6 CLINVAR:520895 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e66d8a0-0ade-4b92-9148-5a9bd94d7abd CLINVAR:520895 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31b1d209-2af0-4bc5-a02d-117cadb13ace CLINVAR:430844 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d9fd82fb-baf6-43e7-8ca4-dad0cec31a38 CLINVAR:430844 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c50a17b-55bc-4528-960b-8447c9f3a03a CAID:CA409104280 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b53de9e-6578-4e54-addd-c4f0d6c17631 CAID:CA409104280 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d167e632-5287-420c-a001-6c53cc977f99 CAID:CA409104356 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34340957-e314-4f16-9a6f-43d351ef8609 CAID:CA409104356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd7fef84-3a30-4fce-b8ed-5ea4eb838db5 CAID:CA409104394 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c901e8e8-42f6-4ab7-a385-a7a20d2871f8 CAID:CA409104394 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 895a5e2d-4bac-4a35-910d-cd59755011e3 CAID:CA409105356 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3ad54a7-5b0c-43ab-aac6-f1c88230f3cb CAID:CA409105356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c9f5038-37bb-419b-b47f-ca773779629d CAID:CA409105413 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d30f2d33-4dd5-46ce-b372-443af5e5d5d4 CAID:CA409105413 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7c15a90-49f8-49b6-b7ec-0821e44f89a6 CLINVAR:995121 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d4c00af-bbec-4aad-945e-e0a110d275a4 CLINVAR:995121 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be11ebef-3049-43dd-9e64-ae36cae35d9b CLINVAR:1457657 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df00cff9-94be-4069-a8ec-8296285d7afb CLINVAR:1457657 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66bdf923-d4b6-4fc5-b0ef-b0c06b6ae88e CAID:CA2573106197 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 897ab330-53a1-4305-80dc-140bf35d4927 CAID:CA2573106197 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20ce9855-503b-485e-81fb-42c010b39333 CLINVAR:450787 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ebd9b26a-6139-420d-990f-28916d5b4db7 CLINVAR:450787 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48e82036-f65a-4103-9269-ea3e32afe925 CLINVAR:36364 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42af9335-8a35-4eb2-ac43-c66e06e3cc9b CLINVAR:36364 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a258d2d-5849-42d1-8519-0632930548a5 CLINVAR:435439 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d76bef09-c936-4d59-8a26-601431ce851e CLINVAR:435439 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df96bcc7-28a5-4a69-a3ea-160c011ac2b1 CLINVAR:587398 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 64a9491f-51fa-40c8-ba96-270bbaf02b4c CLINVAR:587398 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 530c4316-b2b8-4d7f-926e-c987fa12ca51 CAID:CA9870374 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58a31fa8-44ad-4e14-9ab0-ecc8a3e6bbdf CAID:CA9870374 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 656c2aff-88a8-4784-8c84-cfa169540a5f CLINVAR:447524 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a74c49c8-3f15-4730-aee3-282191b8fdb5 CLINVAR:447524 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ce11505-eba9-4bb2-9fb3-ade08727e322 CLINVAR:804918 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c19d5c08-ca7e-4ee2-a065-b9e15919109b CLINVAR:804918 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c09542aa-cb9e-44ba-b802-6e36c6b6e4a5 CAID:CA409108073 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e5bcd3c-c728-453d-a7d0-88f5b11f585e CAID:CA409108073 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5c5138a-42cb-4412-8253-7a16efadb8f9 CAID:CA409108074 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b7d89f5f-4a14-40af-9a03-40d36de185f8 CAID:CA409108074 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 796944d3-ff6c-4afa-9f7e-ae1ddc31a16a CLINVAR:447513 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef76a66d-59f9-4423-a52f-5aa8e53912ad CLINVAR:447513 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5241b13e-a9dc-43eb-9193-a44ec19a2a62 CAID:CA409110425 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c7ef3bd-07b1-450b-aae5-150ab05daf3c CAID:CA409110425 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18f6808f-b41c-4661-b593-1271ae7a8d8b CAID:CA397725976 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 66bbc31a-b724-4ca0-918d-fef27e356e8f CAID:CA397725976 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e44d042-a8cc-4c3e-893a-13f52de12d9a CAID:CA415078666 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3e60fc6-9b3f-4502-b7e6-b8c28924713e CAID:CA415078666 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04a3b48c-ada1-4896-92af-1fcb6ebf3e36 CAID:CA415078874 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 75b9b437-ccc1-4ce4-bcbc-dc4b015b014c CAID:CA415078874 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd46b56b-6ecb-4185-8eef-4156f391336c CLINVAR:428204 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1260b58e-f703-4d15-afcf-88ab6a0e2c8d CLINVAR:428204 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fa7c229-f6ed-40ca-ac08-adde17bf4e6c CLINVAR:854960 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 210d36dc-eba8-444a-b768-6d8ade083e1d CLINVAR:854960 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eec84473-ebd1-41bf-8a93-9fab18772b6b CLINVAR:1406308 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e8cbd981-ed1c-4f7e-8572-640b7eb06531 CLINVAR:1406308 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d66b76d5-9bb9-4afd-bbdb-9af1d1d7fd08 CLINVAR:428222 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7e71c55-340c-43a1-97e4-a7a6f0950170 CLINVAR:428222 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a179d8e-e6e1-4b09-980b-d7c51bdda471 CLINVAR:198683 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 33fffa94-93e7-48b8-94de-6b5b0bd0681f CLINVAR:198683 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 547037e5-f749-4cf8-a85b-5c9a8b2fdc9b CLINVAR:166643 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 140017ef-90eb-4c87-af25-86e5b1274b5f CLINVAR:166643 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 808bf4ac-ea07-4d3c-9f12-61dd36a157bb CLINVAR:952947 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 610fd795-4f22-4696-962d-f196d9fafebb CLINVAR:952947 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dac7c65-e70f-4ac7-890b-8cb7d6235992 CLINVAR:1684354 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0949e55b-0bdc-461e-a914-0b9f3401c6e1 CLINVAR:1684354 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93fa5e39-17ec-4728-9c12-09cd545d0184 CLINVAR:1695377 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ecef333-b758-46d6-a132-0fab5f53fcfb CLINVAR:1695377 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63dfc0a9-0d4d-4420-b072-fdc7edeaa10c CLINVAR:627020 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e657247-0149-48b7-b7de-e690c0c48a7b CLINVAR:627020 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81248131-f069-4756-a0cf-d03c70ed84eb CLINVAR:1684321 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 615ea608-ba0b-4778-998a-4792469730fe CLINVAR:1684321 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2b44582-0d70-4cde-a060-8180902d7583 CLINVAR:1684322 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 44be17f3-e7b4-413f-9ca2-33fea3351f4e CLINVAR:1684322 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 758c4554-1de9-4d8f-903f-27fa06b9efa1 CLINVAR:932221 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a01909c8-c1e2-4d90-b29a-f2d5fcf5674f CLINVAR:932221 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bc43d34-3740-4922-b71c-ead5ed6256da CLINVAR:995370 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57ac70ae-b063-4eba-bc57-75b4925e0bf5 CLINVAR:995370 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74f420d2-52a0-40ac-8b44-124d5c049ee4 CAID:CA367401928 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f69dde3b-2aea-4ad1-ae70-1d3ebd0a4f86 CAID:CA367401928 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 621f84b6-f6ce-4c74-aedd-1b103d599b1c CLINVAR:1741488 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 571919df-600d-4360-9993-956cefcefe95 CLINVAR:1741488 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 469a916c-b223-4107-9bc4-dfe06ec1afef CLINVAR:36221 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f9f22a4-a5a4-46ed-af0d-55d6cbc51302 CLINVAR:36221 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e570708-8602-4f3f-bb5e-de10441f6df3 CLINVAR:36223 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3070918-c9e8-4beb-9480-1aba085bad73 CLINVAR:36223 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82a6e6a9-82fb-423a-aece-1aba6fca9c75 CLINVAR:447401 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2fc2383f-aea2-4212-a8a3-1715b4fdbb1e CLINVAR:447401 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 705b7a03-1b96-46b5-a551-8ac19f80e997 CLINVAR:283358 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87c78fba-1a83-4f08-a51f-ae726c48e608 CLINVAR:283358 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57d37724-e209-491d-a341-c21670eec92b CAID:CA367401376 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d919e8cc-1504-48ce-b39c-0f9536a00d42 CAID:CA367401376 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d27d35a-22b6-499d-bf01-447722a5c7e2 CLINVAR:2431839 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe3aa326-2c91-41c6-ac53-f5a1c7ab82e4 CLINVAR:2431839 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37bd8f8c-d1ef-4cf9-aeca-0f16f4929a2a CLINVAR:1371376 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a466742-6716-4e68-928a-e79a0d3d7c01 CLINVAR:1371376 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eb9d04f-1a98-46be-8623-b786339cc88f CLINVAR:973969 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af651dc8-12fe-41af-bb05-e4dee65c729c CLINVAR:973969 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60c5b89c-1df6-4f59-ba93-461028d27c64 CLINVAR:1452579 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8794a4e-e876-4a96-b211-1dba2c0478af CLINVAR:1452579 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47bd5ee7-14ce-4ffa-9b9b-e7cf8eca5630 CLINVAR:98821 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 369f46bf-ed74-4d37-8dbe-b6b289a1fbee CLINVAR:98821 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a60267f2-9334-45ec-a4dd-e0e5d7ec43f3 CLINVAR:1212838 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4208313d-734f-4b8a-b56a-a358934a6736 CLINVAR:1212838 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 309e11f8-a859-441f-afdb-f1fbe66f507a CLINVAR:427868 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d4c6bcc-24a4-4303-92e0-18acf8663df3 CLINVAR:427868 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4db20ab1-63a6-491e-b57d-d21a5d084f70 CLINVAR:98830 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db2ac302-d1e0-44f2-9af6-ce299928f395 CLINVAR:98830 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acb7de1f-2d27-4a21-8568-5aa9b5a6f1ab CAID:CA340742683 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9617a0e3-3b80-4801-b416-42528bc43b7a CAID:CA340742683 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb45f831-df1e-4545-9884-c9633910ab6c CLINVAR:2131688 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c36344a8-504b-471b-80a8-1b69b15d9af8 CLINVAR:2131688 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9fdceff-2ada-4f5b-b592-2fc5e3c8176b CLINVAR:850613 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 09ae3124-f8cf-443e-807f-ddfe15e95da5 CLINVAR:850613 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac89eec0-9c80-4336-a2c2-4dae36c387c1 CLINVAR:1452575 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78c67a73-329c-4abc-bddc-c47d238db8fa CLINVAR:1452575 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 831d6bbc-e25f-42a6-8c11-7a1f39258b7f CLINVAR:3233349 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb568be3-e358-4e29-b35d-91e48e9f9891 CLINVAR:3233349 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7ee9893-919c-4a2b-b73d-7d3f42b0f986 CLINVAR:1321180 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45860607-797a-4159-a3db-435fc34772d9 CLINVAR:1321180 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f033e172-a671-457c-be67-22fc8ac31473 CLINVAR:813222 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79da0c2b-3699-4f37-ac96-b0cdce21fae7 CLINVAR:813222 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66ca486f-940a-41c4-9f53-ad58bc3e04a1 CLINVAR:1384701 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac6e3a4f-df3b-4c4c-80c3-d1298922c1f8 CLINVAR:1384701 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beba16d3-bf59-4015-b196-cb80b0714db5 CLINVAR:1445004 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce159887-2614-43fc-9942-337010d35073 CLINVAR:1445004 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5a8f373-b5db-4bef-b20a-b08fa1a0ccc2 CAID:CA340750344 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bbc9ee9f-baf7-4408-a0f5-23679ce7eb27 CAID:CA340750344 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc777161-689d-480e-9b34-16163817fb65 CLINVAR:559523 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a752850-d29b-4a2e-9ecf-675a90c27fba CLINVAR:559523 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69f5f9e7-de01-412b-bcf8-9f9ee1ee2574 CLINVAR:98873 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f60bd1f8-a002-4e37-9592-bec62777ea61 CLINVAR:98873 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9db2fdf-ca10-4433-9823-8e53078587ad CLINVAR:98875 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 865cff1c-32cd-4564-a2e3-cbac4f2391a8 CLINVAR:98875 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7db1ad7a-d09b-4563-b260-0f9f6216b0ab CLINVAR:1074826 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3c5269c-137a-4a28-8443-991ded6f1671 CLINVAR:1074826 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1664f78-639c-4471-9e9f-d2b9cd4c5127 CAID:CA340750220 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 97de6231-5b4d-48f3-bdd2-38488969d8ea CAID:CA340750220 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f084dcd0-0004-4aa8-b707-f114736a3fdd CAID:CA2586966741 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ccca239e-8cf8-4ddc-a26e-2ac4076be279 CAID:CA2586966741 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65d65482-432d-405d-8803-e830493fa69a CLINVAR:437985 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6977022b-212e-4edb-8279-70d4c1ca549f CLINVAR:437985 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb171bf0-c1f7-4ef3-a080-cc620d4be811 CLINVAR:556104 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1629885e-2202-49ab-a281-e8c2e285c488 CLINVAR:556104 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38a160a0-6680-4a5c-8f19-fcad614ac008 CLINVAR:98891 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac8a8deb-93f8-4009-8fb8-50caba847057 CLINVAR:98891 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a39cca5d-ab53-4a19-9bde-0e1a77173871 CAID:CA2695202184 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f1a17ab-1616-4b8f-a109-8a24cd8b7d69 CAID:CA2695202184 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1964494b-3954-4117-9911-fc3e988b625e CLINVAR:98895 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ccb2c24-c4de-4043-a855-fa3a9274508d CLINVAR:98895 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ad3ac00-90f3-451f-a7d7-69548cefcfa4 CLINVAR:1679125 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60df3be3-76a8-4dc2-a41b-d88d57bccb11 CLINVAR:1679125 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edaf8cbb-3cc5-4423-88eb-5a6c31b426fc CLINVAR:98902 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5befac9-1765-4d42-a00f-360d945704db CLINVAR:98902 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 218123d2-7b96-418e-840e-a69943f748e9 CAID:CA340744560 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 702454c3-56d7-468a-a591-04424449ce61 CAID:CA340744560 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1182c712-df22-443f-9cef-cf094bf5c834 CLINVAR:971195 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b915857-b25a-454a-b68d-4b5a5375a3a1 CLINVAR:971195 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06d40263-1091-47ac-a933-aeac7c9f67f9 CLINVAR:2098676 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7d129f5-687e-4431-b0ba-fa5c3263c3ac CLINVAR:2098676 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cca161c-b9eb-4c8f-93f6-13b0a1f43676 CLINVAR:1515226 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99129d86-710b-4246-9bd5-242bfe26dc34 CLINVAR:1515226 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fd8e0a2-57ee-4a58-9643-de2bbe6fddef CLINVAR:1348464 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bcff1d7-3345-4763-b26c-a3b820e206a0 CLINVAR:1348464 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 666f5bf7-e978-4506-b0bc-afe9c40bc703 CLINVAR:2269371 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8a0ea73-d507-435a-8455-2751b43573b9 CLINVAR:2269371 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b5f0c08-61f4-4f27-b29f-abdc5f1517fe CLINVAR:843919 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78a21029-748a-4301-a600-4fb336a275d0 CLINVAR:843919 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4124d1a-9543-4640-b362-6fd5508d2b3e CLINVAR:2079766 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e14bbd32-1188-40b9-b03d-c5d129c52eb2 CLINVAR:2079766 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0cb87bb-b238-4a2c-b966-ca535a7d624e CLINVAR:2199784 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen abfa8fa1-ab82-442c-a787-c815fd06d0dd CLINVAR:2199784 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bb9be5c-bf7f-4a0f-954a-2812b3b4da84 CLINVAR:1038658 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71e8ef0b-c42c-4e78-b4d1-ce8ecef13e8f CLINVAR:1038658 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb6276e7-c5f5-49cf-b7e2-760349986de2 CLINVAR:1195941 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 949c9ef7-895e-40e2-b5c9-d366c9801994 CLINVAR:1195941 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d49d21a4-6ba9-438d-aed3-7c3b898bc4b9 CLINVAR:1507601 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 260892cd-511e-4c29-b6e5-147da634d57e CLINVAR:1507601 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da0d51a4-f080-4fda-bfd3-8a5fc7ca69cd CLINVAR:1357028 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6bc6eaa3-d040-4a51-8d09-2a0963f051cd CLINVAR:1357028 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09578426-2063-4027-9dfe-00e3e0ba43be CLINVAR:950101 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f88edeb6-032d-4be1-b854-04ee280870fb CLINVAR:950101 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0be045d-5b66-48dc-a97b-081805fd31bd CLINVAR:1626393 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c262d9e-4cd3-456e-aa87-7b0a6bad17bd CLINVAR:1626393 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22e5c19f-ba0d-4464-b2d6-7318071357fa CLINVAR:2009484 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40fa9a10-b8c2-4b91-bcd5-d51e25dca1f7 CLINVAR:2009484 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed37cb4a-9425-4b4a-93a0-009754046654 CLINVAR:845973 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 505d0b25-a18d-44e4-8cf5-c71bdf696163 CLINVAR:845973 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e742570a-3792-4111-bff1-4c1dc813ef02 CLINVAR:897016 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d16c398e-0c3a-4b98-8f56-503fcaa31b8d CLINVAR:897016 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c652d9ec-ee35-4195-ac93-9529bd627923 CLINVAR:194316 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e67791c1-db44-4d67-bc98-5a11d03aeaca CLINVAR:194316 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87a1fa47-e1ed-4d0d-a603-099f057dd865 CLINVAR:541723 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c20fa27-e021-47f5-adf3-e79010c2994e CLINVAR:541723 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b12762f-e643-4dd6-ae13-5933a545bb21 CLINVAR:36199 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3cbcdb44-dfd4-411a-8821-46884aba80de CLINVAR:36199 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 482e4cdc-434f-4018-acba-a8df4bd916bc CAID:CA367396925 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65b45f3f-2585-4173-b4ff-0b1e327e15d6 CAID:CA367396925 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82edfcf0-7232-4aeb-aea1-0799a4754f4b CLINVAR:36195 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen baa6d312-8597-4b9c-a026-36b932bf1140 CLINVAR:36195 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd6da785-3ad0-4984-adc7-e41bc3246652 CLINVAR:36194 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7656d46-fb27-4985-a2d4-8549b95119e4 CLINVAR:36194 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a62b6110-be74-497f-b870-ae0f80d65eff CLINVAR:585912 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27ebd659-df65-41f7-af8f-0d093e47f7cf CLINVAR:585912 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ec6af83-419a-457e-b702-d9c73fbb86b3 CLINVAR:36189 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5b46bc9-7b34-4c27-a3d1-6aee829a898d CLINVAR:36189 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8b6063b-0b05-4420-8ccf-6924758305c2 CLINVAR:447389 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8c9ba5e-22e5-4855-826b-88f3d085a02e CLINVAR:447389 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2096e612-de21-4867-a346-d3a35de12583 CAID:CA367398282 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1b26063-84cf-4e10-abf1-763901dba5a7 CAID:CA367398282 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 549b0284-ac04-4440-a252-4b64480850db CLINVAR:2734988 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e22bb1ca-99a6-4c71-a3d0-d45142c39abe CLINVAR:2734988 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcfcfd64-7238-4359-b47d-99c8c7083e1b CLINVAR:447387 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee9ab7d5-c6ef-44ed-8545-9f76393c494f CLINVAR:447387 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf7466b4-74af-444b-9f38-5858139c9312 CAID:CA367398289 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d2ef712b-e068-4109-85ca-5f611ababd40 CAID:CA367398289 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 176ac3b3-070d-4ed6-bd55-1572d4a494e1 CLINVAR:447386 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44e6ac30-2b86-4041-869d-b3fd6313b7d4 CLINVAR:447386 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cb80579-d8d3-4e57-a5e7-92023e6cddc9 CLINVAR:3233995 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92a9bef9-9f1b-4ca5-9e2f-7a2b41561e8c CLINVAR:3233995 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4db81b8-400c-4e71-a6f9-5c71c033bb98 CLINVAR:1472875 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7783e49-a9a9-4a5c-bea8-c7c9693289d5 CLINVAR:1472875 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0166110f-feb6-4407-ba7a-a62445e759d6 CAID:CA367398311 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb07e80d-2a64-437d-9a15-4dd42a3442b5 CAID:CA367398311 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2a14437-60ba-4a23-a942-7a182e2553ad CLINVAR:1303094 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen afae1e33-5f7f-47f0-9494-eb10bb2b0fe0 CLINVAR:1303094 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87feafe7-8b7f-42c9-b349-88fe40ba39bb CLINVAR:36183 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 156b5198-8501-436f-ab76-d877f79e6f7c CLINVAR:36183 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c154dc2a-d3db-489a-b46b-5529f2180b4c CLINVAR:36184 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72bb49b6-3bbf-460c-847e-ee167e39472a CLINVAR:36184 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96d08649-4b05-4887-a153-08606aaef86e CAID:CA2580610955 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 33e9ac01-4ad7-4511-9b1a-cea2098e961c CAID:CA2580610955 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a116dc2-5929-45ad-8c24-8bf1afb81b8b CAID:CA367398660 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d22ec775-b14c-4860-84db-8ccbe0bb4c2d CAID:CA367398660 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b9f9c37-df95-4ed6-a718-f737623ef4b1 CLINVAR:3233998 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a7bb3bae-9bce-45bd-abc6-37d2d4aba784 CLINVAR:3233998 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 185f18c4-a338-4ed1-9c57-51c5a7b9db38 CLINVAR:280892 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d4af57a5-edee-4f37-a307-1f64f2a9ac6b CLINVAR:280892 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 582ae07c-ac6a-44a9-b1d5-2509e09ca05b CLINVAR:36180 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 728482f9-9070-4776-8775-9407af333473 CLINVAR:36180 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0eb2a27-7c58-41e9-8994-971e6dde190a CAID:CA367398699 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 13408070-94b3-4cb9-94fa-fe41eccf1fca CAID:CA367398699 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac3c0b3d-2bb7-45ee-8efb-c7b3989f6c32 CLINVAR:804837 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd38b88a-daff-437f-bb14-2ec97e90c92e CLINVAR:804837 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb385730-d869-461e-b87c-1b61f1e3a04e CAID:CA2580612101 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aa0bb4ae-7b85-4f3f-9b4d-f5eb5348630c CAID:CA2580612101 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0e1591a-220b-4f66-ba44-44a520978e70 CLINVAR:219179 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0cf14c18-3573-4dff-90f6-e365cd8d32a5 CLINVAR:219179 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe7a334b-6f48-4e63-b929-262e6843282e CAID:CA367401894 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74276913-7f00-4461-8ac9-91591ae54c7e CAID:CA367401894 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13898931-3915-42aa-8447-92675c099890 CLINVAR:2567920 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a3a314e-27ec-46c5-ae9a-658f0b719df3 CLINVAR:2567920 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ac6c149-6529-4ec6-a9ea-82dea0c845f4 CLINVAR:1512780 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c70f84d7-b4a9-4ed7-a89a-0830e2a527d5 CLINVAR:1512780 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd94796e-e748-40d8-bc31-dbfd1c5da210 CLINVAR:990457 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46f4fa9b-027e-4acf-813a-328749669a6e CLINVAR:990457 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6140527b-4dbb-40a6-ad84-95d3e219ac63 CLINVAR:1309924 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c324804-3482-4cfb-bb2f-89407076c8bb CLINVAR:1309924 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af8fcf41-dfe3-41d9-ae2f-d11b78d9e9d7 CLINVAR:898483 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f96221a4-d20e-4282-ae71-625e5b3c5b1e CLINVAR:898483 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af20dd29-4089-4c4e-9c15-e2e61b274fcf CLINVAR:8800 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1333f14d-d77c-4971-995b-28381d3b20c6 CLINVAR:8800 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 107ba77c-60b3-4ab2-9263-5a319b83e6a8 CLINVAR:812796 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f5864bf-3dc2-4078-8acd-62106da635f4 CLINVAR:812796 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a0b5ee4-4c57-4490-9341-a44e24f3b5e5 CAID:CA409106055 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cae89084-3157-40b7-a292-da894f19aba7 CAID:CA409106055 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9ab1c69-bd9c-42d4-b8bd-f80e304e2a87 CLINVAR:304560 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 061fb37f-bf67-4af6-8fb3-89b8e4a9c9f9 CLINVAR:304560 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 233adee1-f651-45dc-af07-abf5eca3573e CLINVAR:2301303 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6079e144-c41a-44da-8072-c929fa547087 CLINVAR:2301303 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d604fc67-b9af-4499-b788-c5d05816663b CLINVAR:857533 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d0b66ce-c694-484f-bbf9-2f8356ee5486 CLINVAR:857533 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1cdcf18-fa03-406e-9ec8-3acf3125a92d CLINVAR:658239 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 35a05a4d-ffe2-4927-943c-7689c3a792b5 CLINVAR:658239 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3b4771f-0270-4958-bf17-d3ce1ae03ed9 CLINVAR:879522 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28c14247-0102-493c-9283-99bb2ac338d2 CLINVAR:879522 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e850363-7f5e-470c-bf9d-fb2485d44c23 CLINVAR:990456 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19114c8c-270c-4a7a-9c3e-f0254ce9b663 CLINVAR:990456 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74a93ded-3ada-4962-8f40-a142c7b9c05c CLINVAR:662119 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b0761d0-bc4f-43d4-bbf8-7100c1d37b09 CLINVAR:662119 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28460e5a-bcd9-4d47-89b3-8e05ae175689 CLINVAR:382795 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8a7b1fa-32d8-484c-bf8b-7ddda403a961 CLINVAR:382795 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c669e84-7a0f-4028-b531-087f93aefdf4 CLINVAR:1015428 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51dfb52f-187c-4aa4-9d08-a043c5f676d5 CLINVAR:1015428 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f81ebe1b-345a-4706-93ee-de556183398f CLINVAR:960745 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b391f1ab-5d52-4d51-b9dc-bcf7e32d9731 CLINVAR:960745 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32f9fce9-c21a-484a-ad6d-910e7ed7e7e1 CLINVAR:2147602 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6003eb09-3568-4397-af62-3936340d9f95 CLINVAR:2147602 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a452401-47b8-4376-8417-5891747feb0e CLINVAR:1696220 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ed846fc-2b79-411a-b8b1-c6621df30af8 CLINVAR:1696220 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50cef23e-f0af-45ff-992c-b16bcc4586af CAID:CA409106957 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3bfa21da-7684-4e79-b4d8-d9f61fc5de2a CAID:CA409106957 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a40a2cf4-458c-4b57-9c33-d2d096d98e5a CLINVAR:212810 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18cebc2b-b31e-447b-a800-d1dc01d44128 CLINVAR:212810 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77965d23-1797-447b-81f2-b0e27eacdfbc CLINVAR:8799 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 045c0c64-f073-4fce-a2d7-f422bd636baf CLINVAR:8799 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f2004eb-9d88-4e16-ba71-602f695b64e0 CLINVAR:333645 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 294a2897-fc27-4fee-9d00-ec81e79a46c3 CLINVAR:333645 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f07ba7b5-9726-4d5c-80e8-f3556df9ff06 CLINVAR:898486 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae013fbd-d8af-4b49-86eb-c3c074680943 CLINVAR:898486 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ba6f473-bc31-4992-9e9d-2a523f208cbf CLINVAR:409829 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e88a72fd-7f70-42b3-bdd4-bdd0a6f271ed CLINVAR:409829 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c874b8ea-cbbc-4cb1-81ab-59fc845a873e CLINVAR:425943 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c3257f0-0124-477a-8fe1-84b96619c5fc CLINVAR:425943 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e47bea5-7232-4d4b-8561-3370ad5acd1e CLINVAR:8797 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce324997-353a-4a91-be88-60180ea35f65 CLINVAR:8797 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5ef240a-6294-4ff4-b653-443252f1d715 CLINVAR:425725 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d93cd17-a1dc-4601-a957-e29a09f34395 CLINVAR:425725 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d597ae2-8b28-4606-9b02-05d81c8f2a39 CLINVAR:8806 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6709315e-420b-43b1-a79f-bae61519c279 CLINVAR:8806 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94f97bd4-47bb-44ff-a592-4c55939555d4 CLINVAR:228460 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 709b895b-0ff5-4420-bb42-4a2e7a84c7eb CLINVAR:228460 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6123563-4e9c-41d8-89d6-ee1a91c87fa9 CLINVAR:425852 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c09c47e0-f57b-4a16-acf1-0eb69c4bf3b3 CLINVAR:425852 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29c276f0-3819-457e-ad78-f487d6b17fb4 CLINVAR:409828 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37e183ae-613f-4b49-992b-9529219784a9 CLINVAR:409828 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcef5a7a-ca1f-4e80-8855-fdbd92c9249c CLINVAR:333647 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc058a30-2e12-4f79-85f9-af7f038b3864 CLINVAR:333647 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f39f3fd4-47a7-4b12-9075-c7423e0a876e CLINVAR:8813 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c8faace-dfba-45b3-bbcf-6a6ed981eb06 CLINVAR:8813 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf2267d8-bd0b-4664-8607-f63289c08913 CLINVAR:623142 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34d903e9-d801-4c9b-b2eb-7eb9e79ce2b0 CLINVAR:623142 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c494b01e-6445-42a4-8c15-ae893a72db0a CLINVAR:623143 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb8eb0ff-53eb-441e-b79a-429fcc29b334 CLINVAR:623143 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d14cb1b9-db36-47de-bf40-72b63d8f826a CLINVAR:425800 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee1fc106-19af-479d-8ece-f80bb39a8f6e CLINVAR:425800 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bcc837c-1980-47a5-ab81-eb03b106491e CLINVAR:627027 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3aaa7550-4ee0-4554-a69a-ef269121fe60 CLINVAR:627027 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 468abb2c-d4a3-42c8-8be1-6bb41f871159 CLINVAR:627268 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1ecd8dc-e749-4e50-8f81-e83b848fcff1 CLINVAR:627268 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76c46fff-20bc-4fe6-be49-e963f4798177 CLINVAR:626981 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d32b0e3-b4a1-4add-b92a-683d2cd18111 CLINVAR:626981 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f032a0a1-a811-4d8f-a5b2-935e52088bae CLINVAR:627284 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15cdd4f2-37f1-4c03-84bd-fef50ca014ab CLINVAR:627284 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12b7d9ce-2363-4e25-949b-f70776647489 CLINVAR:2092257 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c990975-8fe4-4614-b07b-86124265fd8d CLINVAR:2092257 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d63c8a4-6a29-4123-bdd6-2732be19517b CLINVAR:425731 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15fcdafb-06ae-4a9c-83f8-ea2f1172b652 CLINVAR:425731 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3efda26-17f1-4935-9bdc-7902e0891767 CAID:CA400034189 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0bdba35f-b8ed-4361-8df0-28d1501642c6 CAID:CA400034189 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d02edaf2-f779-4aa4-9398-1d0edab3e3a5 CLINVAR:626948 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 430f0e25-0707-4fb1-9e31-54dc2bb3320b CLINVAR:626948 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd412afc-2285-4ea6-90c3-ffb84d657e59 CAID:CA399803746 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a9ef2c2-183d-44e6-993d-204988e9cd43 CAID:CA399803746 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dfac1b2-f991-48e0-b8a2-4b88525218c7 CLINVAR:1349574 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7e4e4ae-1db3-4883-a253-1cc2ac1b8c37 CLINVAR:1349574 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03f934b5-c01d-4472-ba6d-5d97c6fb7594 CLINVAR:36713 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9af596b-c77b-4efc-b894-593f41acb121 CLINVAR:36713 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be77ab3d-2e6b-49cc-89c3-ec087ad3417c CLINVAR:1365761 biolink:causes MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fba471d5-b716-4097-a60d-b52aa8604c2f CLINVAR:1365761 biolink:is_sequence_variant_of HGNC:10590 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50e325ec-be3d-4694-85ae-d27a2833f37e CLINVAR:207024 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d1487dd-d12a-4342-b3a0-5ffe36270e93 CLINVAR:207024 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d163d981-328f-4b45-ac04-7ff0f16b33a6 CLINVAR:189929 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c9657dd-ae42-4c74-badb-904cac8e2119 CLINVAR:189929 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdfe65e6-3bcd-4bad-92d8-fd79a35fccb3 CLINVAR:425938 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92136f07-1ba4-4982-a7ca-a80ae6e2f300 CLINVAR:425938 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e15439f-697e-41d6-ad5a-0117d76220af CLINVAR:1759366 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e576a260-4cf9-43ad-a680-345012fa4471 CLINVAR:1759366 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb58400e-17a9-44d4-8367-fe144008fb57 CLINVAR:656642 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e2b4a1a-5446-4adc-8fe4-00aafac5a9b5 CLINVAR:656642 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15f95ad0-f938-459f-8c29-bf3b28c5149c CLINVAR:850948 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c66875b6-07d8-4d15-9fd4-8a2e8ff0b394 CLINVAR:850948 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 092d5377-6fa0-4392-986c-ebb955b07936 CLINVAR:826421 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c218e3f-b3e9-4f05-9bad-c0780be4f81a CLINVAR:826421 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08249ab6-86fe-4973-bc18-86d4aaec64ec CLINVAR:543562 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af7211f1-8b83-49bb-bec5-74d5849e19fd CLINVAR:543562 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0ab1c45-0db3-473a-843a-688f07035368 CLINVAR:570615 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38a67a4f-43ca-4054-89c0-e0770796b0a7 CLINVAR:570615 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99ce92fe-4f97-4d3c-93ec-4ef422cbf4b8 CLINVAR:412143 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c44926c7-0c59-4939-ac5a-b79eed072964 CLINVAR:412143 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dae79c59-cec4-4fdc-a7d5-bd2dc17bee7e CLINVAR:652143 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0dc4d2f0-5a56-402e-997b-fc8615a2fbae CLINVAR:652143 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12bc998e-38ca-4ea8-8cab-a1d52ec438b9 CLINVAR:479649 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8636ea2-05bd-47f6-9598-3558dc686e70 CLINVAR:479649 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 402b0097-09bb-4182-a405-264c6a302190 CLINVAR:477204 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99890174-abee-4821-8a97-42549cf9bd71 CLINVAR:477204 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b72aae1c-44ba-4211-9fbd-5758d3c0ec70 CLINVAR:1687238 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87930603-0507-447e-9f01-419bed850c8a CLINVAR:1687238 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 377f60a1-2f03-45f3-ab26-8d02fa1bc05b CAID:CA390867526 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2d92727-6722-4947-ac45-cce0da06d6d6 CAID:CA390867526 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c9c9510-ded5-49d3-8abd-f02c688bce24 CLINVAR:285157 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74dbb8cd-6fef-45ab-9822-f9354b08d4a3 CLINVAR:285157 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffb97251-1d10-42fd-9679-1f6afe9139a7 CLINVAR:189124 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b1d41c2-9c23-4697-921e-acac01720ec3 CLINVAR:189124 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5f84eca-0d3c-444d-9501-f4e8c373567b CLINVAR:253297 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e49e4dbe-ad26-4b34-a0ca-6ec88e0f97e7 CLINVAR:253297 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffaf1291-9559-4d2d-beb3-c97bb5ac2389 CLINVAR:694309 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f476c5c-10ef-48ee-a27c-4fce315c4f9d CLINVAR:694309 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f9f8808-9dfe-4067-b6a8-5b79d4c8ba1c CAID:CA2586970245 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a66e8bb-a1f8-4757-9c66-df3de594dbb6 CAID:CA2586970245 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a2eaadf-a764-4dbe-be13-d2215035b4f4 CLINVAR:189869 biolink:causes MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a24068aa-12de-4f0b-80c1-3bffd14d0313 CLINVAR:189869 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea27f412-9b35-4511-96f9-9af2bec6da9e CLINVAR:373960 biolink:causes MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca66946f-3584-477c-9652-b00f3a98a497 CLINVAR:373960 biolink:is_sequence_variant_of HGNC:10590 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43c39738-d4f2-40a7-ae1a-12d6cd4429ea CLINVAR:68689 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0af8777d-9bde-425c-ae76-27a43a17f3a5 CLINVAR:68689 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3ecd97e-f730-44a9-a2a4-bb92040614fd CLINVAR:206852 biolink:causes MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84ee39f5-0a21-427a-97fa-df2535be6c00 CLINVAR:206852 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebbdcbaa-df76-4e06-9b59-b43c12af5b0c CLINVAR:194555 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7464656-2ee0-44fb-a955-d25d1de5b4a4 CLINVAR:194555 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf197d16-22cc-4556-807a-75ac9a962515 CLINVAR:1478168 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 98be1b0a-c017-4d70-b158-0f3ae6627e14 CLINVAR:1478168 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60f1b119-1a68-43cd-944c-3d1a51ab797e CLINVAR:1342669 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 042ad338-5551-451c-84b1-bb636da32465 CLINVAR:1342669 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9607fbf-338b-4d78-9b9b-6a884b3e55a5 CAID:CA343777244 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9fc6ec43-2192-4a2b-84e6-f8cfd212923f CAID:CA343777244 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15f8867d-8696-4076-a995-ddabeaafd06b CLINVAR:654211 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 08930a50-228a-40bd-a375-0aec2e70d3c2 CLINVAR:654211 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eed8eff6-bdee-4817-9590-3f6b87514ddd CLINVAR:18015 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ad3f1e4-3fff-4d16-89d3-5a090b1b5744 CLINVAR:18015 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bcf6e3f-210a-4f29-9213-2bbdaaa179b9 CLINVAR:870596 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae47c097-f696-4dba-b70b-a0b10cf778e3 CLINVAR:870596 biolink:is_sequence_variant_of HGNC:7494 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99792d04-2fec-4120-ad3f-547bc725641e CAID:CA1251327 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8dcd581-4d14-4a17-9bc5-c713a8d13794 CAID:CA1251327 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b34d2d1f-5a5e-4e7e-9c0d-c6393e97709d CLINVAR:811513 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a67a78d-0c64-4c19-ac17-9044905d70a3 CLINVAR:811513 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71546260-e359-45bb-90dd-41fd3d15c1a0 CLINVAR:699299 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91759d57-cadf-45c2-9e1f-53a58e7be1eb CLINVAR:699299 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07804569-d356-4b0c-b597-a33974d21683 CAID:CA414447224 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4c76b9a-6417-4b5d-aa82-be36c0e4f29f CAID:CA414447224 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b62cbe3-fbe3-4e44-b3ac-021d9db00658 CLINVAR:9211 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23606969-8572-4483-8fab-5eeee81144e5 CLINVAR:9211 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04cc6dcc-9fa2-4fab-870d-0450125b1f86 CLINVAR:972784 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39b2340f-6399-4bde-8cb1-a83e889ad44e CLINVAR:972784 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9148c277-e0dd-4915-bd2b-866275fd3da4 CLINVAR:586016 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae5fbf83-e21c-4076-af37-c58a33c900ad CLINVAR:586016 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea889161-5e53-40da-aff9-4eb4e899c7f1 CLINVAR:549554 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6619dc4f-86c0-492e-9702-c1226e81f58f CLINVAR:549554 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00e700c2-8311-4a6b-9ad0-d9e663bc1b71 CLINVAR:435437 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e86563e2-28fb-4e23-ab8d-c2ee5ee89877 CLINVAR:435437 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b313c5ab-4a6b-4cca-a398-7315b53e0390 CLINVAR:493321 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6a91c5b-c41c-4de1-9199-ebe389ea48cc CLINVAR:493321 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af4835e6-e04b-4b8b-86a8-8fe9cea9b72e CLINVAR:520675 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c5f3bac3-ffab-46b7-8aa9-e94c65648a7d CLINVAR:520675 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbfe8130-e4be-49c2-b305-9db9c9d7fe67 CLINVAR:488999 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 28a8f953-7054-4081-99bb-5dea4cd6c3c4 CLINVAR:488999 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ddd55a4-9b09-4862-9146-5a2b003f7c41 CLINVAR:36354 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b2fe358-e5a3-476d-867d-384e58876d0b CLINVAR:36354 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae9fd389-4aa6-4cde-a2d5-e888ec4ea0cf CAID:CA409106173 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c555cf8-5bee-4f17-85e1-043ef81bbdbc CAID:CA409106173 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42b83448-f975-45af-bee6-6cc43325bc2b CLINVAR:2580600 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2595ab3-81a9-442a-b8eb-b9428da96515 CLINVAR:2580600 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ce5a798-a2a7-41cc-8148-1c8bde217929 CAID:CA409106718 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7da65a1d-3336-4926-9d5f-34059ec517ed CAID:CA409106718 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0addfda-ce47-4036-bc6b-f873678d8312 CLINVAR:36355 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 82a182a0-e501-45d8-b7f8-f4bb99bf287d CLINVAR:36355 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fe9c6ae-207a-4e70-858d-5fcc219e4594 CAID:CA409106789 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e10d060-8042-4fd4-a43b-fe7507f04ba9 CAID:CA409106789 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef42ad79-8442-47c8-96c6-d3e9b87e83c4 CAID:CA409106859 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95cdf9ff-ca33-43b9-b346-6566b10a8f03 CAID:CA409106859 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 717f6b0c-c6dd-4441-9d9e-b4ca03fc0a06 CLINVAR:397578 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d1fc75b-8691-4a0f-9709-86b0daa450ae CLINVAR:397578 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a116da6b-edc6-4acd-8ca1-9e61892be79d CAID:CA409106952 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f8ef1ce-9222-41ad-9120-5fc943edf873 CAID:CA409106952 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 335942dc-ad66-4d3d-8931-cffa009d30f8 CAID:CA409106961 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba001382-d630-4803-8167-7a0c8bba44df CAID:CA409106961 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68b6faf2-3f3c-4eca-b4b0-47fe7cd8aba5 CLINVAR:586020 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b72fdcc-d83a-4f0f-b799-a5a0b2192e06 CLINVAR:586020 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f5d1789-258f-481f-a1bf-7953d579eb52 CLINVAR:1186689 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90f38ee0-38a6-447a-b47a-b3968d44886a CLINVAR:1186689 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0e0a885-cfff-46f1-b804-3318fe93e0b9 CLINVAR:447520 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd6f7b5d-ae54-4969-b1a6-81f9eddbf8d7 CLINVAR:447520 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cb07a28-1d62-4595-9b39-25b552ba5ac1 CAID:CA409107446 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d2e0bd0-74ac-40bc-b462-c1bf5b1fcf9b CAID:CA409107446 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5622fcd6-4ed3-499c-a8f4-197ec9ebae79 CLINVAR:870344 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 368d5e7c-65ea-48d5-9a4a-153600bfb2e5 CLINVAR:870344 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44d766d7-ed51-496e-be04-8d724273cffa CLINVAR:36720 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd7a8640-578f-4ddc-bcfc-89249f716521 CLINVAR:36720 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f98302b-8a87-4462-907e-4848f3e6e9e1 CLINVAR:2163677 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4300bd11-f478-4393-a5ff-410dd93419dd CLINVAR:2163677 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17f91f3a-552a-4184-a863-4ef53f685f90 CLINVAR:36716 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df071622-e5c1-4dd2-8311-ac9d6c31d8cf CLINVAR:36716 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4137b45-2551-4566-8562-837d391eca20 CLINVAR:857069 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f82e67b5-6d06-42ae-ad7e-2fd6d6a644ba CLINVAR:857069 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac5fd2bf-88ba-493a-846c-7160e64d63f7 CLINVAR:281042 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ec9fcab7-a2d7-4b48-a6c5-0f141f28ea3c CLINVAR:281042 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9de14be-1494-4623-a943-292441e93fbd CLINVAR:370886 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f83f378d-3db8-4d80-ab92-c0b88fb276fc CLINVAR:370886 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d41d867-1423-48bf-8bd8-4002a06d723d CLINVAR:932843 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f48f1ef8-faea-4b2c-8cc1-afb0b13833f1 CLINVAR:932843 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 367462f5-c612-46ab-a992-2b1899ec3075 CLINVAR:557676 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen def82004-8267-40ff-b02e-552d0798db7c CLINVAR:557676 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4662693a-c0a9-4051-957f-87fadb890c92 CLINVAR:21024 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9d26d496-82fd-446a-8965-a88a43474746 CLINVAR:21024 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f9a65df-4c20-48b7-bd43-989633720f62 CLINVAR:197662 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 432bf6d6-6271-4f69-9899-cdc660304e24 CLINVAR:197662 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0495559-bf53-428a-a725-f806aa71c4c8 CAID:CA415086302 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a37479a1-ca3f-444c-b9d1-d1f1d41cba9f CAID:CA415086302 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c3adaa7-9868-445f-b196-52814dd58615 CAID:CA4239423 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1e657e6c-9cb2-41e9-9766-b727bd23d106 CAID:CA4239423 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4056dad-1ee7-4934-8fa7-a89e25b8901a CLINVAR:983782 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f5e39b3-4a24-4f5f-859f-18dffbee3fe5 CLINVAR:983782 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b497dc0a-95dc-4c08-8755-c46bdb5b7986 CLINVAR:983781 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e1443a6-5fd2-439c-bfeb-4ea6134d6766 CLINVAR:983781 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a6f08b2-0808-4758-96ec-32e7e3ff7f08 CLINVAR:636917 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b9044709-f04c-48f5-9ba0-c31003414371 CLINVAR:636917 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7466742a-7c8a-4d17-8acf-d050f2a43d71 CLINVAR:1323112 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a2c9b0e-2053-4fcc-9691-c1c23adc65d1 CLINVAR:1323112 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dc5b8dd-9de7-44ed-82a6-f2a6fe567860 CLINVAR:418451 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d68f4cc4-a8fb-4adb-9723-62ffdceaf9f2 CLINVAR:418451 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49ee60e2-8049-4cef-a1d3-706fc950b910 CLINVAR:496900 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b6b1809-f4bf-472f-b15f-3d9450ada462 CLINVAR:496900 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cddcf92-8021-45f2-a5fb-42baf79dbcb2 CLINVAR:450358 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc52b6a1-9b88-46be-8de2-b81ed6f6fc63 CLINVAR:450358 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cb0a8b0-b901-463b-b605-f1c6dfb26c5f CLINVAR:280954 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c3566e0-281c-48e9-a75c-02c3fe6b85ce CLINVAR:280954 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5bbed35-7bde-4a20-9509-60fd2f1f9958 CLINVAR:928930 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3dce5bdf-3c66-47fd-8be2-f09733a54302 CLINVAR:928930 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a2a89b7-7f2d-4ba3-b7bc-fabe22fb1304 CLINVAR:285197 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f49316e-acf1-4cde-ab16-8564e5bf159a CLINVAR:285197 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33ec6c43-c9aa-4193-bde9-e53fab071aa2 CLINVAR:4023 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0b2bf59-23a0-4887-9457-8e058442ae75 CLINVAR:4023 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf0bea41-b360-4085-874f-82d1b952f574 CAID:CA400029324 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce2dafd6-ffe7-4491-bcb8-fb4b1c747afa CAID:CA400029324 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c41d9cd-e0b0-451a-9277-71d3fd06314b CLINVAR:1803282 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f72ee24f-d6a6-4daa-83cc-83c4dd7ef621 CLINVAR:1803282 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c0a66ce-640a-4378-a1ed-70bea87180be CAID:CA2759533408 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b54ffef2-37f4-4c7d-aa7e-b63eaf4595fa CAID:CA2759533408 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5ad149b-a72a-419f-8498-c103c7d3884a CAID:CA2759533407 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0805a20c-fc84-4171-a009-7f84599b88c8 CAID:CA2759533407 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b9a7da6-c3b5-4805-96f7-21caf3ae7e30 CAID:CA8603562 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c8167a2-144b-4daa-b7c7-7c9eaf51a0ef CAID:CA8603562 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54cfc273-e1de-4be1-8b6c-e8967c6d8d9a CAID:CA8623258 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a70edeb7-1728-485f-bded-98e589199c67 CAID:CA8623258 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4271a8be-f8d4-4ae1-b09d-e9a62ad3d7c5 CAID:CA8622981 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b66760bd-e445-4960-9485-e634cff47f44 CAID:CA8622981 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71f9a18f-5a80-40e0-8aab-90ad61fd0406 CLINVAR:627098 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 541bd5bd-513d-4f7b-a3a6-63eac9e66dbc CLINVAR:627098 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8863c22a-0f10-440d-bf2d-aacf57804943 CAID:CA367401570 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 407e27c4-f05c-4486-81b6-ad43d5ce9a89 CAID:CA367401570 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 870e6ccb-8c86-463c-849b-ada4bbf34ca4 CAID:CA367401572 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 20d0f968-add0-40ad-889c-7f2ab9176b8d CAID:CA367401572 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc8b58da-71fb-4db2-81e2-35692dcf23ce CAID:CA2740099755 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4c8ad16-5cfa-4806-8915-b7da49b13ce7 CAID:CA2740099755 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d3d86c2-9fdf-4745-92ff-43b621c739a0 CLINVAR:1700671 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a626fac8-e01e-4cc7-8c1d-046c492f190f CLINVAR:1700671 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38c1a7c2-6c10-4595-92a9-fcf942114bc9 CLINVAR:994548 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 589f461b-beea-408f-8d5d-4dac7f6a6813 CLINVAR:994548 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f585aa60-d1d4-449f-a056-4918cf24061a CAID:CA386959402 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 88136ed3-80e5-4e44-8d49-fcb629be6419 CAID:CA386959402 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01c1b33b-8cbc-4647-9cb1-e0a6c7daf2ec CAID:CA386959427 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e6fa74f1-7b1a-4110-af46-3536d8a0f1a0 CAID:CA386959427 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3f75162-bcf3-40bb-a805-f72d67515be7 CAID:CA386959458 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a01f304-4d5c-46a2-90c8-d3ea9538651a CAID:CA386959458 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1003cec-0716-414c-b0f5-e7a93bb18eff CAID:CA386959470 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 08fbaeb4-81d6-454d-a093-4792d3450e8c CAID:CA386959470 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf60dd09-2976-4b59-9a11-1ac5d2fdf41b CAID:CA386959497 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8b44dd4-13cc-4bb6-919d-34d1f5189604 CAID:CA386959497 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cdc7fbd-983e-4017-993a-0e8c665dbec8 CAID:CA386964629 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f4ac981a-75fb-4d2a-b41e-452c2d839837 CAID:CA386964629 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06e73d39-2c84-446e-aa9f-cdf73d1252c3 CAID:CA386964662 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ff2ba68-a1b6-4e88-8b87-466e34f8c57b CAID:CA386964662 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3212cd91-c899-40c5-963b-e150a4c53af1 CLINVAR:2916089 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7cc59e13-f286-46cc-8afb-078ea4a1cef4 CLINVAR:2916089 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ded54d4-c9a5-4646-9ccf-0eba76b70d7e CAID:CA409109837 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88c397a6-dee7-41f2-bf42-3b67d2e7b7eb CAID:CA409109837 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e0f90f3-1b95-44f5-b421-535a550fb555 CAID:CA409109839 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d091f21-5eef-4bbd-991d-462ff897194f CAID:CA409109839 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d56d18c3-9d43-45d7-aebb-bba90cb5eedf CAID:CA409103677 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1cbc7af-78b2-4ba8-aa43-d2f12a517c1b CAID:CA409103677 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7df12feb-5b4f-4a32-86b9-aea04ad730d6 CLINVAR:967164 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa2f6c3d-c7e6-42db-a0e9-d902d09dc9d1 CLINVAR:967164 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d36d1f2-ce41-45bf-bc56-03dc40c672ce CLINVAR:841399 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbce27de-6121-42dd-94ea-da58e409cf1d CLINVAR:841399 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b21d85d8-9a2f-4017-9dca-4fcd689f25db CLINVAR:835256 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cab35956-4d10-4871-924c-da103c7f1d87 CLINVAR:835256 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e7ae259-a9dd-4c2f-9f66-c2f689af8e74 CLINVAR:2050660 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1ef3468-0cb3-464f-8642-42fdd5641a77 CLINVAR:2050660 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa895702-e083-49f0-a050-e66ac7042824 CLINVAR:573475 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50a9ef86-0c24-40d8-acb8-eea7082c7273 CLINVAR:573475 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52f25872-2577-4c38-ab2c-b3bfac95ee89 CLINVAR:940774 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c73af52a-d48b-4d08-a143-108ac2fc0682 CLINVAR:940774 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffa62877-3385-49a5-82d4-5a043051a928 CLINVAR:11703 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen afaa6831-2652-49c8-8434-8060972732c1 CLINVAR:11703 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b7acf0a-5bf8-4608-a406-472955c168ab CAID:CA2582129988 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bdfe07e-5e25-4825-b1fd-645e9f0a3034 CAID:CA2582129988 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 169c9cfb-9e70-4a00-a252-49437a1a9262 CAID:CA415079038 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a08578d-0b9a-4ace-ac2f-a05215cb25fe CAID:CA415079038 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1781cb5-66c8-4c2b-8f6e-c27876e3fd9a CAID:CA2582115911 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29f3ea28-8c31-4f45-8133-334a4d23cb31 CAID:CA2582115911 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbc11980-8b77-4d39-99c5-b9392df7e21a CAID:CA10549330 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7cba773-a1d1-4f70-b646-b92d540ada4f CAID:CA10549330 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e023eb0d-d7c1-4a63-ace9-7fe00104f6f4 CAID:CA10549339 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6a4f5de-3b79-49b1-9f7f-3fa9beb3da4a CAID:CA10549339 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0e7f484-921b-403f-8476-2f64f75a3fed CAID:CA10549367 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40bbe6ce-f066-44b4-ba26-5b7a6a931be5 CAID:CA10549367 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8ed125d-d5f4-47cf-a31f-8e2dd20ef06e CAID:CA415080522 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e6560a7f-20ef-4270-997e-cd92c9e3a59d CAID:CA415080522 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e32f6578-2a45-4205-9a44-510f24f33455 CLINVAR:410218 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f48aec0-b673-49bb-9567-c5922c01599f CLINVAR:410218 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07b13363-6efa-4088-9e15-251c80882e34 CLINVAR:488696 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e811789c-c9a2-414d-8123-95114db8c99f CLINVAR:488696 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5af1c201-7f6e-4139-bfae-072f5eb29838 CLINVAR:1066149 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e603b60-3e59-4653-933d-78761f5d5978 CLINVAR:1066149 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b16dc67-b464-471b-a5a4-7ee42d1370dd CLINVAR:1305363 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00020c92-7168-4225-ad22-7113a1989d73 CLINVAR:1305363 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dd3df41-580e-4a0f-9cf5-4f7901868196 CLINVAR:633275 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c1613f7-2b16-40f3-864d-f3dc1a3e48e8 CLINVAR:633275 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f9a3f8a-7ae2-4ab0-834c-4f5fc48e3b4a CLINVAR:1677132 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 80e5959a-6062-446e-acf4-12b480598605 CLINVAR:1677132 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eebb983-06c5-4d46-ae2b-722583ba4d0b CLINVAR:9363 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80c6b869-4f97-48fe-a541-238fb09f1351 CLINVAR:9363 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78d795c4-1d94-4e0e-b475-1d517800ba8e CLINVAR:9364 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d3edc92-aa56-40b9-b23c-bf6560de0a4a CLINVAR:9364 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70ce4d1d-cc1a-441d-b4fd-1c22a82ab836 CLINVAR:1708141 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5ff4552-c380-451e-8702-6ae934078371 CLINVAR:1708141 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9144f36-9e9e-4ffb-b17e-2b1ef74ebe22 CLINVAR:968126 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a7a5f8d-bcb0-46d5-b489-d9f1fb91e8a6 CLINVAR:968126 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88871406-79c1-4fac-8c30-0f956e035e63 CLINVAR:653423 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 503e4a99-b9f3-4c3d-b2fc-9c481590f302 CLINVAR:653423 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa920c34-6db6-423a-9281-91b94ded16c4 CLINVAR:646928 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1c162f2-5442-4191-8041-fb2bc5335fc4 CLINVAR:646928 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b1aea81-2add-4ff4-8390-b25eeb1a8148 CLINVAR:576525 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b8ba766-8606-4d64-aa2b-e03c8f12acfa CLINVAR:576525 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b1de0c2-1aa8-446e-9e57-a59037f4cf68 CLINVAR:647111 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f10b33e3-2d93-474c-8b7d-406cfec98a72 CLINVAR:647111 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c5f6178-566f-4393-9dcf-dfb92183765e CLINVAR:1022921 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a174c9f0-1cb1-4aa1-a061-bdf1ae28bdb9 CLINVAR:1022921 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen febf7f01-596a-4395-90f8-74dcac012d7a CLINVAR:299320 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c332387a-ff17-4bc2-b129-5bab57346d4b CLINVAR:299320 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d62282d-5e6e-4907-abd4-d7e5b8916f07 CLINVAR:1042451 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85908ebe-91b9-41df-a485-0fdf70a65bd1 CLINVAR:1042451 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5429086-7169-4abc-866a-ee1c9c344fcc CLINVAR:288327 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 539f2514-b35f-4d10-a24f-692a72142207 CLINVAR:288327 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdafc0d0-a665-40d6-955a-012a9680581f CLINVAR:1965651 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8189983-0040-4325-9ddf-0aa475e43c75 CLINVAR:1965651 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93b390a0-16ad-4b5b-aecb-1822351cbc0d CLINVAR:666119 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cbaa77b5-1827-4219-a711-73906cba6134 CLINVAR:666119 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 285d9863-6658-468e-a55a-f740ac02613a CLINVAR:879948 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d439d3d-43cd-49fd-af7d-9e1295ba073e CLINVAR:879948 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9212980-c848-43c0-b4f7-0ab509acf426 CLINVAR:1511542 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c1fb1d4-4500-48f2-bd98-bccca292e74d CLINVAR:1511542 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3ad61fd-8abf-4ba3-9ec3-9e5e641a1d2b CLINVAR:1013704 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38b586d9-0ddb-4e16-9e09-708bbcae546f CLINVAR:1013704 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7428126-8e73-469a-bfc1-7d00087f0d46 CLINVAR:879949 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5cafbf5-78c5-4de8-ae3f-7c298412a812 CLINVAR:879949 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 683b715f-4553-4f84-ae5c-edbfb8add6bd CLINVAR:1514295 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc9a3b83-f62c-4ae8-b032-3bb1842cae8b CLINVAR:1514295 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e987310-1421-41f4-8ffe-9d50d495551a CLINVAR:648065 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 707abf33-fbd5-4210-9edf-820be0af7167 CLINVAR:648065 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57d443c7-2335-48fb-889d-1f7a8531082d CLINVAR:1144398 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a91e6c8-4c1d-414e-b68f-a3b0150f722b CLINVAR:1144398 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56a676d1-6f9c-4ff5-9bb3-dac347f6a273 CLINVAR:418656 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e96335d-8168-41de-ac77-ec248a8da466 CLINVAR:418656 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52a56e09-c073-4575-8024-9caa1b708137 CLINVAR:2138599 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bbd4e827-cc59-42b4-adb0-d9f74b2ebd0d CLINVAR:2138599 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28df947b-8473-4421-a90b-999571b9caca CLINVAR:1507904 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52d24995-9be8-4d71-913f-7bcb115e77e7 CLINVAR:1507904 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f96efcca-ea2d-48d8-b369-fc0b8436053c CLINVAR:1411137 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0186d93d-4753-4294-a42e-f9e66e3f064b CLINVAR:1411137 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8261446f-5028-459a-a293-0e98b9384bdc CLINVAR:463384 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4c08fb5-edbe-4782-877f-fec2dd4b11be CLINVAR:463384 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d67ae66e-76c4-4925-813f-29091b224c77 CLINVAR:36388 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f8261a0-a22d-42b8-8b0c-751525ddc1f8 CLINVAR:36388 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3566456-c6c7-48d5-a9e4-abc42e2b9b8a CLINVAR:503682 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad29db33-39a9-4bb7-902d-954c82040a12 CLINVAR:503682 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d8a137b-7c05-4b5f-aadc-027d030c2f10 CLINVAR:1172577 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 618cc378-874c-4fbe-b623-859970cbf119 CLINVAR:1172577 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73bc2a0c-6289-4daf-87a4-d8bf90169e6b CLINVAR:1066837 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cb5c6e41-cf23-433d-92a6-6e82dd3cab34 CLINVAR:1066837 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6999ccad-32d4-4282-b4c5-2dbc4df04bee CLINVAR:463378 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen adacc6c2-0c38-478a-8843-fe4737787fe5 CLINVAR:463378 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b53e42ed-b57e-4a14-9fbf-df718743cd09 CLINVAR:624606 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 553838be-16dc-4d00-8525-108dbf156b0f CLINVAR:624606 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ad4000c-2c69-4d4c-860e-fc33049c86a5 CLINVAR:955439 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b9bd4ac-e0c0-4623-a46b-dd41caaed6fc CLINVAR:955439 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 020e4ddc-58e6-4e76-b3ac-468c2f00a720 CLINVAR:449383 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b527800-9a69-4970-9c43-1a17b26909e5 CLINVAR:449383 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2112af3-cf6e-47bc-83b7-0d503f3a8d61 CLINVAR:353268 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ac8279c-42ee-430e-acf8-0b0f7abc1813 CLINVAR:353268 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba4d9325-ddb3-4ed9-8cb1-e7f6e3971416 CLINVAR:418257 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7606720-b404-4f2f-a871-ef9aa5c602aa CLINVAR:418257 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dc6747a-dc55-42d5-aa04-049ab3e1f884 CLINVAR:1393864 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1aba64c-7e91-4103-ae6a-81b260b927f4 CLINVAR:1393864 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a24c6da7-d7dd-4870-8a76-3ee2e45bcb02 CLINVAR:555727 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f659cf8d-43ad-4c35-b405-aaae817b7dc6 CLINVAR:555727 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70d67bb7-1054-4092-8564-64efd154e23d CLINVAR:1901446 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17d059fa-1fc9-44f7-b35e-bdd02d895009 CLINVAR:1901446 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3078e067-c889-4fa1-a951-3d0fb1b0e0b2 CLINVAR:444650 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 30efe03b-21c6-49b0-940d-68c6abbb5315 CLINVAR:444650 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e69d5011-c642-4b73-8800-a7f085ef0642 CLINVAR:1068066 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7070aa66-5553-418e-930d-abd5869a04d5 CLINVAR:1068066 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52fd735c-ebb9-4972-a484-f5c6ab4cf5a4 CAID:CA1139771069 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fea3a46-1011-49ec-8802-f22a5322137d CAID:CA1139771069 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b9234e8-2cef-4a9e-93ba-24b6258acbe9 CAID:CA1139771060 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db3dd55e-24b4-4dc1-9f4b-2ee5d6bd9ce2 CAID:CA1139771060 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b79f6706-33f9-4945-838a-5df1a46b445f CLINVAR:2820100 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22eeb42b-548e-44dd-bed4-db53b2356368 CLINVAR:2820100 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e6accdb-2ffd-47d3-b9b5-59cc64414552 CLINVAR:1710503 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 707641c8-f59f-420e-b78d-f79462502857 CLINVAR:1710503 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60e05853-8f48-4e60-99a1-429ea1056d30 CLINVAR:1484777 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1917719-dc0e-49b8-abab-d3b3b1e9f95b CLINVAR:1484777 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82f22981-a7e0-4fca-800f-96dad84be56b CAID:CA2695237935 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7cacd886-fe1a-4e32-9615-83713558aa7a CAID:CA2695237935 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e31cf27-398b-4956-890c-ba401926cacc CLINVAR:561109 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c58ca572-138c-41ff-89d3-46363113cac7 CLINVAR:561109 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a429a9d4-94ea-4f9a-af76-fe9529af04f7 CAID:CA415086032 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84bfe515-62f8-4810-9224-fbb6cc265e41 CAID:CA415086032 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 901f67c5-5ea1-43ae-a39f-489eb28c673a CAID:CA2579916736 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 325b08fc-189f-41f5-9ee5-431017cc275b CAID:CA2579916736 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94334587-6127-4fe3-a698-f271f8f9855e CLINVAR:428806 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d297d1d8-89cb-40d0-ad65-37f368d4c8a3 CLINVAR:428806 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d432b4b4-02cb-40ac-988d-254ce8486b95 CLINVAR:223171 biolink:associated_with_increased_likelihood_of MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dfea443b-b5b7-4433-9c2e-803db706a63c CLINVAR:223171 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de4af22d-ba1a-4b08-a032-a49532b23a3b CLINVAR:526679 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f3877c1-522c-4cc4-bd86-4fdb3e905a01 CLINVAR:526679 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c7d3b07-ecde-4cee-9295-4ae71ef5e0b3 CLINVAR:526673 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22d2dcbc-7a47-4f1a-81e6-d795bd89ff2a CLINVAR:526673 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b843e32a-0585-47cf-81a6-66751a851152 CLINVAR:43597 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c5f7b49-cec3-45a7-b46b-065aea38666f CLINVAR:43597 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb630961-12d0-411c-a968-7cffe97cfdff CLINVAR:560745 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20e30996-ea63-4fe5-b212-22cd5e23702f CLINVAR:560745 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ef11486-4bfc-491f-bd9b-a8c6239f4ea1 CLINVAR:2225 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d96959fe-cf6f-4d6f-af24-3b9e5f6b8f86 CLINVAR:2225 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01ffe92f-cc30-467f-8760-ac76cccd4b25 CLINVAR:440404 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 616c989e-a892-49b9-97d9-931a284722d3 CLINVAR:440404 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c418fdac-4ce9-4485-b957-4bd96328b6fa CLINVAR:196284 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb025458-5178-42f8-86d1-ade63409336e CLINVAR:196284 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd72b9b6-c8ac-4352-9739-5fb86ac9b6b3 CLINVAR:428794 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9406bf51-f246-4927-84a0-62e33dab31be CLINVAR:428794 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac1ce684-e91d-402c-ba49-7af0b75bbe08 CLINVAR:2216 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7fa0fdd1-07ea-48cc-b91a-fe0e6f70f830 CLINVAR:2216 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b0d1159-dc45-417c-9efc-00ab3ab86d97 CLINVAR:182959 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b1426c3-e2c3-4819-b878-735a5edd37fc CLINVAR:182959 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b17ca2c-8fef-4af2-9763-73e00de532a5 CLINVAR:411979 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0792a04-4a49-41c7-88fe-54b8fb0460ee CLINVAR:411979 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b3f5117-9c5a-4f52-bce0-003a1ff4f079 CLINVAR:43601 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6b1e7f3-969f-450a-b118-2750f7d28067 CLINVAR:43601 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bead83c0-624e-4ef6-876a-97a9010f168d CLINVAR:141044 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 233ec320-72b0-4cf0-85db-6b0e213a150d CLINVAR:141044 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc89f079-645d-4e27-84b1-fdba2345daa8 CLINVAR:223194 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60845d61-437b-42e1-88d0-8c1f2a953582 CLINVAR:223194 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb35b323-0105-4329-b14e-97adf8e8262e CLINVAR:411994 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 815d8f32-6a83-4711-8f5b-39ea8ead1056 CLINVAR:411994 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f750f4ce-0050-4e94-bb79-352f907343db CLINVAR:411978 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2e4fa4a-c8d8-4cef-b2b1-4886afd120b5 CLINVAR:411978 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10543def-8ffd-4926-83c1-e8b5d3bd20e2 CLINVAR:182977 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a673f98a-0b40-4dfa-8d15-1e2105519673 CLINVAR:182977 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d1830a1-67ea-43af-8c4e-88fc560ce8f4 CLINVAR:93326 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e270c01-2fb2-4f4d-94fe-d9235d74f9f6 CLINVAR:93326 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df827941-eee8-47d7-956e-5863e36a6e51 CLINVAR:941841 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d50895ba-2633-44bb-9c8c-0fddac44cf15 CLINVAR:941841 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ece0a346-b0db-4c62-9bcd-814013336b78 CLINVAR:655729 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c2be6431-d3d6-4c25-aec9-2d0fcedf1aaf CLINVAR:655729 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb2b46fa-26b4-4fa1-97b8-16d50cf89892 CLINVAR:378124 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 397cfd74-8595-41c0-94cf-cb63fc2f72be CLINVAR:378124 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb53cf62-270e-4072-a7c8-e7766801d794 CLINVAR:3256144 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 162c0b2c-fa2d-4614-a4ae-7ef9b9d6ccab CLINVAR:3256144 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8af5925-8a7a-4831-8c12-a391c5650982 CLINVAR:1391239 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b8787fb-fa6d-4329-8aa5-239fd3e8ade7 CLINVAR:1391239 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5197f8b4-320d-4334-9da3-b68464411d2a CLINVAR:1334161 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13deafd8-0b6a-44bd-95e3-b22c0fe59863 CLINVAR:1334161 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f0f04f1-e1db-4cc2-92c8-4e2ca77ce365 CLINVAR:438620 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b701ddf5-e8f9-4963-9ea7-e576150e2525 CLINVAR:438620 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6edc2fa9-b56c-4356-b4ff-7d939ecf869f CLINVAR:18009 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 46d85f74-f572-4bed-90e4-64658fa60884 CLINVAR:18009 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42724366-504e-4dcf-9c0e-2734f010ecc9 CLINVAR:876602 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af9f3948-ec9b-4cae-a0aa-c6f302ba9c0f CLINVAR:876602 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c64697f4-9fbe-4b5b-a6e1-1320de662d46 CLINVAR:1301540 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aeb052fe-a064-44bf-83bd-bdc7611d848f CLINVAR:1301540 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2623edb-5b50-48da-8875-88705a1a8adc CLINVAR:627341 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c10ec1b-d00c-4e52-8908-1765a013165f CLINVAR:627341 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aa08a20-2193-442a-9b56-cb8862af332d CLINVAR:661606 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 863834bb-14cd-4f50-b33e-ad851cf8948a CLINVAR:661606 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78e5dd61-7c00-4ee3-8727-515e827425f8 CLINVAR:18030 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 881bd422-5d27-418d-81ed-316ed20f279a CLINVAR:18030 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af402143-2a8a-4523-ade8-63c4c13678ea CLINVAR:2267274 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f6a1014-ff32-403a-8692-41bfd71d9194 CLINVAR:2267274 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8e4eeb8-eb7d-4ce4-bd21-8d5bb7733b4d CLINVAR:940768 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a800127b-bca6-478c-88b2-4d710e005a14 CLINVAR:940768 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b556fd1-ac4d-4d28-97e8-f7174e8243f3 CLINVAR:293841 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c831487-e5f8-4065-9370-e3b45291fb6b CLINVAR:293841 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8278cd39-0006-46be-9218-ab17e7a38291 CAID:CA367402543 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b3ecb01e-abc5-413a-981f-205a2ee0e1bb CAID:CA367402543 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 705b0c74-c2a6-44dd-8c93-7becbdbfbd95 CLINVAR:3358853 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40ef9b95-123a-4e3b-a570-1765263b45e5 CLINVAR:3358853 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c493394-3495-449f-8a9f-6d726c42a6c1 CLINVAR:993916 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen de2f92d5-3213-4f65-892a-6150f4ef563b CLINVAR:993916 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15beb6ae-cdfc-4090-8dac-392555ae79b5 CLINVAR:10253 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18924fa4-475a-45c1-bece-90dd54a5c18b CLINVAR:10253 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b93ee84-43c0-4638-94b3-2260462976c5 CLINVAR:10236 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 62e29a6f-1be2-48e4-8922-456641d07b54 CLINVAR:10236 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43dcc85c-f216-4622-9111-d0d80c144323 CLINVAR:2775446 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e250621-2e09-4230-9aaa-8781cbf720c1 CLINVAR:2775446 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecdb9cc1-259c-48b1-a08f-45cec30687bf CAID:CA414916097 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf780508-d35e-4ebe-8b73-67edd4fe627e CAID:CA414916097 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8281477c-ef67-4a5d-a8bb-b974f172b4ed CLINVAR:10208 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e156f0a-b5a3-4bba-bf6a-3f2eecbdf785 CLINVAR:10208 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02728ab2-0faf-4021-8892-93d93a3e619a CLINVAR:10195 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26e1a552-b7d5-45cb-b2ed-fc0d4c2e69e2 CLINVAR:10195 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a48cb75-10d0-4464-9e70-fbc884b37cbd CAID:CA414896830 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ee00dc7-4566-4fbf-a09d-a83ec1e8bf2d CAID:CA414896830 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae9510c3-8202-4a92-a366-92d2c67b47c9 CLINVAR:10085 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ebb3b9f6-c05d-47fb-b3a8-5c5274403b75 CLINVAR:10085 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc11da71-2d5a-45cd-a7c1-3679303ae5e9 CAID:CA414447210 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7aefc7da-33f0-467d-a194-3fb1cfa85d25 CAID:CA414447210 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9e6fa20-c1d5-4f4a-8f72-7c4576658bb4 CAID:CA414447212 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c40375d-ffc3-420e-9b20-65f71ab2643d CAID:CA414447212 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a211ef1-cc2a-4c71-ba6d-65c94ac9ceb8 CAID:CA414447216 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e603cc8d-15cc-46de-946d-99b33c1eb5e7 CAID:CA414447216 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dcfc436-3f84-4d14-a093-8b0680d80190 CLINVAR:811512 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac85446d-196e-4b94-a860-40cb8f992a34 CLINVAR:811512 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9b7fdea-1778-4782-9747-3cf999f86b1a CAID:CA414915809 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c3ef7042-4007-4874-acee-785ae8da8773 CAID:CA414915809 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dd7bc0e-30a1-42d7-be7b-2b9fcce5a444 CAID:CA414447354 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86a39a3e-0a80-4a2c-9fdb-07ae54d2e706 CAID:CA414447354 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e8bf19d-e66b-4eb3-9e0f-9624ce526817 CAID:CA414447351 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3e1b98c4-f69c-4597-b38e-8106bdedd0eb CAID:CA414447351 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a2bf8e8-e7bc-4cb0-8096-fb00bba5b562 CAID:CA414446711 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cdab6bbf-c46c-4e3f-82c8-fb0fb668f49a CAID:CA414446711 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48592bb9-4634-49af-bbef-add11c0463dd CLINVAR:651569 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 256d89d1-9e00-46d2-8181-4fa7253534eb CLINVAR:651569 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67f63483-8c96-4260-ba2e-c732c210e026 CAID:CA414445371 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06cccf09-b632-4267-9eb1-f4aedc12f98a CAID:CA414445371 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e15c8210-a44b-4289-809e-1b1091bdccfb CLINVAR:626950 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd6d23f5-a855-4e4f-b5c7-91181e99b353 CLINVAR:626950 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c0e5027-c1f0-42cc-80e0-9e225822a244 CAID:CA414447533 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 420701c2-7c48-4151-bee9-fb150cc28dd1 CAID:CA414447533 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12d5804a-2be4-4a56-9b84-40450707cbe4 CLINVAR:10587 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac317957-a896-4475-8141-c9eb8a96b9a1 CLINVAR:10587 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ff26397-a419-4cf0-9758-91ebfcecef6e CLINVAR:10585 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e8db3ae-c23f-4eb3-a8d5-39f990208488 CLINVAR:10585 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f691530-d9ae-42ee-963b-6423946c4767 CLINVAR:810867 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc0d9979-7ef8-4cd4-8b96-bbc41d63645d CLINVAR:810867 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45762661-b7d8-4340-9256-1d75f4eba821 CLINVAR:10572 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c6090161-2f02-4e3b-b2d1-440d12c2b0e7 CLINVAR:10572 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca5eee68-2138-48b8-9749-598a730cba1b CLINVAR:216926 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4097f1e3-8863-4c03-888b-2e2dbb0b6472 CLINVAR:216926 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a75d949-031d-404a-a0da-522d413c5b5a CLINVAR:10579 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f94ed62e-4ae2-467f-a03f-f115bc4091df CLINVAR:10579 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f08d6727-5768-47df-a4e2-d233c6efd4cb CLINVAR:2775451 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18bd6d9a-a1f6-4593-891b-341472bfc4a6 CLINVAR:2775451 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1863820-4395-4ae1-b532-1bf1df3c4a90 CLINVAR:2775450 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9013cac8-9e1a-41cf-91c2-fd4a6d149100 CLINVAR:2775450 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dc8ec63-559f-4100-8b30-dc572ad1f64e CLINVAR:627328 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b11bb8a-b114-4714-a240-1ccc40b4a1e0 CLINVAR:627328 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe717328-3fb0-4f60-8b8d-0baea547d20a CLINVAR:10256 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c243d24d-8f90-4595-b333-59253aa45161 CLINVAR:10256 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3db68b29-952d-403b-8af2-ff9382c59bd1 CLINVAR:10294 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ffe3d04-de7d-46a2-94f9-1accffaaeaba CLINVAR:10294 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 267a79bb-b526-4dbf-b2f3-5a1e7bc1a68e CLINVAR:10274 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d99974f-2de0-4772-84b7-c13ae04fa9cb CLINVAR:10274 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dc1e7d9-1a2b-49f2-8172-ad1fe0cf2a74 CLINVAR:2775449 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a5a1801-64b6-429a-85bf-40ab62d548a7 CLINVAR:2775449 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ebd810e-0c69-4262-954e-f82ace64c0ac CLINVAR:10232 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9835be3-7fb5-4d16-a819-6ae07cbe8840 CLINVAR:10232 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3e3b1f3-a812-4bd5-a286-6dfef6a73917 CLINVAR:10247 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 525037b6-77b3-4bab-94ce-b1e3a3451109 CLINVAR:10247 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9827dd40-59c0-4dc9-b69f-51e47a8bb3d0 CLINVAR:2775448 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14c14458-15b0-4499-b325-58fc68226809 CLINVAR:2775448 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a8b73bc-b0b3-4f86-b148-de5b0b5ee261 CLINVAR:10139 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b6e0252-e1e3-41ab-8b2d-b568ca3931d5 CLINVAR:10139 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11b3f835-fefc-4943-b374-06148f2768c2 CLINVAR:2775447 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5cf41c43-492d-40b8-88f3-f298b81dbf5a CLINVAR:2775447 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e450bed-5e25-4f53-975d-7869b0b7c7b2 CLINVAR:10304 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 90b5a1b5-d61b-4b11-98d0-16d20159ffd7 CLINVAR:10304 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c12f7d3-eca6-49fc-846a-d6070a4ac15a CLINVAR:10327 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df00a58a-afbd-41cc-8610-118cf1e219d2 CLINVAR:10327 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94cde32a-07cd-4b11-9fd2-ab9a5e51c23c CLINVAR:2775445 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 41614591-ae03-4563-a95d-5368d442f7d5 CLINVAR:2775445 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 428e0084-4892-4ce0-aa50-0918c84c871d CLINVAR:2775444 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa4636b9-33b3-4160-afc3-b49d2c95ee9d CLINVAR:2775444 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14e01401-6068-4256-aa91-5461964fad03 CLINVAR:627165 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c57dd77-8b0e-4cdd-a7d6-a371918f36f4 CLINVAR:627165 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e3ff06c-8862-4348-b9fd-0a2837021e78 CLINVAR:449370 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen daae0164-6794-49a7-99e7-0c7304681af7 CLINVAR:449370 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5defdb6-57c2-4c12-acad-9fecc3c962bc CLINVAR:618104 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d36188f-ea8b-4aaa-9cd5-f58cb0a66afa CLINVAR:618104 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7950729c-fbc5-431f-a371-6e0662fd3909 CLINVAR:10226 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 073a9146-a12e-44ab-b81f-2171df21a6ef CLINVAR:10226 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b1ac642-12f8-4f75-ac23-053765db38df CLINVAR:10225 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc114f20-c801-4ac2-8fad-3589d3e5d653 CLINVAR:10225 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 941fbd0a-19bc-4a1d-bfad-3b1dfea40bc3 CLINVAR:2130981 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8a127aa-0ec3-4ba4-920f-e5622dde256d CLINVAR:2130981 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 605df83e-4c8d-453d-bf19-a2d853e20d11 CLINVAR:580214 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 304788ff-c485-4174-9a81-835dde897261 CLINVAR:580214 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d49821d-50da-43df-bb80-53cfd35a55cd CLINVAR:843571 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c250dc4-381a-4c37-9d90-a7090ef61c5d CLINVAR:843571 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 657f95af-2270-42ed-9872-60733f268545 CLINVAR:1692640 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55953eb5-17d1-464d-a5ac-f4b7d78dbf45 CLINVAR:1692640 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f96b696f-9385-4fd5-9d37-f8529d2b21e4 CLINVAR:948047 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 890d044b-7556-413d-b350-87ba9b690aac CLINVAR:948047 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61dc2283-6de6-4769-a73f-5ab504f25e00 CLINVAR:1053850 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38f11676-c7b3-418b-abd6-d953bb47b90e CLINVAR:1053850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cead5a1-07f8-4604-8d2f-099cfa9f9f7f CLINVAR:837414 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fffecd17-9f79-43b7-81c1-f7002d4ef6a7 CLINVAR:837414 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d68db80-4f53-4100-b511-b7023d9b6735 CLINVAR:1424427 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16a36727-c8e3-4f1f-a310-8650b46ddde2 CLINVAR:1424427 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f64586e2-40c5-4656-8673-04737887ee2b CLINVAR:2435493 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05ea3146-9f76-4c1b-8c83-b7c7852435c9 CLINVAR:2435493 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb911f39-d0c7-480e-a629-9190f38ddc8f CLINVAR:1482695 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73d1f07f-a963-4e0c-ad51-766c5fadc707 CLINVAR:1482695 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74e2f728-afda-47c8-bd26-ec4e5a075931 CLINVAR:1722154 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ffb8014-f498-4868-93bd-def86937d5e3 CLINVAR:1722154 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dc67c49-2998-426d-9574-2bf7ae09a797 CLINVAR:2047695 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d36b3e26-5fe2-4dad-9a54-6040a32b5f08 CLINVAR:2047695 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a94bfca7-ca9c-4b4a-9816-c7e75d8e062e CLINVAR:1487660 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4e2935f-a419-484b-b3b5-65afc4d9443b CLINVAR:1487660 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33b11ee2-1a8b-4bd6-9ffe-893ee5ee38ca CLINVAR:1722136 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4202751-96d7-44a5-bc28-3d33508a1d04 CLINVAR:1722136 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8728c4a8-e3ef-4a08-a018-3109af0c0105 CLINVAR:1692648 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab587433-25b2-47d5-8602-62f567bb211c CLINVAR:1692648 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9151dea-6380-46d4-bbe1-9c13123afdf3 CLINVAR:1352428 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eac4c743-5a21-45d5-9b5c-a933cf79d025 CLINVAR:1352428 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f5f6edd-8029-4c3d-891d-0c9348bf0966 CLINVAR:951606 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee9556f7-26c9-453b-bf38-4f7eddaf11e3 CLINVAR:951606 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c6c0d6d-9cda-43c8-b75a-6b054ba55165 CLINVAR:464004 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03155027-6805-4d65-ae95-25062cd402f0 CLINVAR:464004 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d1904e1-d713-43e1-adb4-a17761d8a494 CLINVAR:1703791 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4abfe353-65a0-48d2-9727-1aee58ac85b5 CLINVAR:1703791 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b522755-020b-414d-be4e-c03fe08940b6 CLINVAR:1024050 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bed09827-60f5-45c2-80de-9f43fa5781f9 CLINVAR:1024050 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 803ac954-966f-483e-8e48-02abba291eb7 CLINVAR:239046 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55eb830e-c936-4aba-b9b2-9b118b0ca981 CLINVAR:239046 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a99d5711-fdc2-4fe4-8d92-c9cacdc1a87a CAID:CA410202636 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98ed3211-301a-45f4-a5e0-f99dd1214978 CAID:CA410202636 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3090ae27-21d8-4933-a792-07f08ba55b11 CLINVAR:436615 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 765ad81c-2b7e-4821-9a6c-f9258ade4ceb CLINVAR:436615 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72d9f2e7-ec2d-46ba-814d-e629d2f3961e CLINVAR:853648 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 712427ef-db4c-4c1e-9c5e-c27e4e92963b CLINVAR:853648 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c60ce58-eb2f-4256-ba84-f58f7830260f CLINVAR:856424 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1befb78b-dd76-4cd0-ab1e-1562ff1169c6 CLINVAR:856424 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 192dd460-61d4-4c1e-8fb5-ff2fe5cba5cf CLINVAR:860155 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47df331c-bddb-4506-8071-17f8b90b897d CLINVAR:860155 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2326017-2d97-43ee-ac66-1355a44cd37e CLINVAR:1496304 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6a4f6f0-671a-4f1c-973d-f5154f3d4d47 CLINVAR:1496304 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23630ea6-e309-4dc4-927c-0f9b6551f9f4 CLINVAR:463983 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0906b10-265f-4f22-a2d8-c0482af29a0e CLINVAR:463983 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 201b571b-787c-4094-8c9a-b10962e20148 CLINVAR:1709200 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d1eb7b6-e29f-4e59-9e5e-58f2e682e85c CLINVAR:1709200 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c3fcc15-9d1d-4c7a-b446-0fb0d225048c CLINVAR:1016458 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a800f58-3844-46ba-bd8d-521d9a3f6e44 CLINVAR:1016458 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8826e80-7bdb-482c-9d72-2639e92197ce CLINVAR:962678 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 634bdced-be33-4cc3-9366-d9365be72132 CLINVAR:962678 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d36f952-87f3-479b-ba9f-bb82ee06ba82 CLINVAR:959847 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce25087c-7b06-4ed0-b61c-7329e03a040c CLINVAR:959847 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49d2cc55-3131-4410-96f8-f733363f340e CLINVAR:956754 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c917bc08-a0bd-4b83-9f9d-4575f2a50846 CLINVAR:956754 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8556ffb2-c36b-4752-b6dc-0e96dc9e7e79 CLINVAR:949338 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 378e79e5-925e-4df1-9578-2df087a43417 CLINVAR:949338 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94d80578-96be-4240-a76e-4ba44c214fb9 CLINVAR:860286 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8384f5ba-93a0-498c-8f42-91432a9b017a CLINVAR:860286 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a09adc56-2b8b-4eec-8da8-19ed7a06fc8b CLINVAR:845897 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3824495b-4819-460c-865d-4629dbaa7c62 CLINVAR:845897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1c47254-edd7-4d90-b807-fd22b7c02a04 CLINVAR:655133 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 783fe452-0084-4ca9-b17f-3de10bc3d98a CLINVAR:655133 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1c32354-8c70-48eb-867b-f1f8aab90fd5 CLINVAR:1401789 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb7ed9f9-00f8-44ec-b0fb-159cd5102d22 CLINVAR:1401789 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fba56a3-d984-4f3e-b848-75edfadd750f CLINVAR:570999 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23dffc48-b66e-4eeb-9019-bff746ca3ec2 CLINVAR:570999 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 004dfb7f-54f4-4ecd-9ef1-8676927fea5a CLINVAR:1359458 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40b0e04e-6e71-4c3e-8a71-2bdc1edecfea CLINVAR:1359458 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96dada62-a222-4072-b6f0-415ba8027742 CLINVAR:2087940 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9a3ba93-e81a-4a78-a04f-4fe63d844e5a CLINVAR:2087940 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d5a1c1f-df02-447c-9f6e-b675cb098b96 CLINVAR:409825 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a63b70cb-b4ac-4a01-a9bf-2b7302c1e3ec CLINVAR:409825 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62d5c162-1fc7-4f36-af70-6692b1b87f89 CLINVAR:561241 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca0abd58-db1d-4448-8996-e3bb45553f54 CLINVAR:561241 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 425d71c7-af4e-4e99-81ae-e1aacf0e20a7 CLINVAR:862114 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 621a99b4-aa17-48ec-a1ef-b0258e0632b5 CLINVAR:862114 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87129a38-5cea-4a3b-bc8a-7dc74c2305f1 CLINVAR:561239 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1977335e-daaf-4a6c-89df-b7ac6e67aa68 CLINVAR:561239 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c504f1d-a23e-4740-9ab4-f42d324a161c CLINVAR:1692641 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3ded9dd-d711-438d-995d-d484615aebc7 CLINVAR:1692641 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 650dc24c-9244-4739-9a64-0a5be367fa76 CLINVAR:1692642 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db5fdbd6-eb80-49c0-82cc-89d67d5cc7c2 CLINVAR:1692642 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3c177d0-692b-4ec7-8012-e16303b7bf42 CLINVAR:1389496 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 658521f1-5275-4c8b-91df-99a108102b14 CLINVAR:1389496 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fdab6e9-18ef-48c9-bbc0-401e8aa71e08 CAID:CA410202624 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8658a4f-492d-42e9-b2c6-b444091baf9f CAID:CA410202624 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3214ed2-be27-4cda-8930-71e2d2179178 CLINVAR:1005132 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8012606-36f0-4842-8cfa-f9fb8dbd46cf CLINVAR:1005132 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f80107a-751d-4953-8469-71689a56ead0 CLINVAR:968245 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f17eecf8-0adc-475e-9320-6c3be6c4994d CLINVAR:968245 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f52e4ed-f778-4aa4-b36e-6cb0ac863c6a CLINVAR:2145852 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39c29962-16a1-44a6-af1d-4f3907ec61e2 CLINVAR:2145852 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5eab6dfd-264f-43e8-a77d-eaf28aeffca5 CLINVAR:1721206 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6814c2ae-4336-44d8-8280-9c32c6d00be9 CLINVAR:1721206 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f57104ae-bdd1-482f-b85e-04be231502c9 CLINVAR:1142515 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38d3b0d6-0f64-4778-b2d7-477dd92324bc CLINVAR:1142515 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7eb84870-cb53-4026-a8fc-d92b0327395e CLINVAR:935710 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a69c9ec0-0275-4fab-9e8f-dd35f6bc365c CLINVAR:935710 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93528fd0-7ae3-4c37-810b-88f4d819bfc6 CLINVAR:840868 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3dc31802-1537-4fe2-bc5a-b465d5175a8d CLINVAR:840868 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a596383c-3e03-411e-bd6f-65c9c9ecc264 CLINVAR:641150 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c866828d-f78b-4a75-bb93-df43c102af3a CLINVAR:641150 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55ac0c22-91cc-414e-89da-e7c2d4025c88 CLINVAR:660172 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e8046da-8561-42bc-bae2-81641a708579 CLINVAR:660172 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd862fda-9ae5-4491-be20-df753d06e8fb CAID:CA16020817 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f18c5cbb-4f18-4374-ab46-3bea21897736 CAID:CA16020817 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e58664e6-4208-4a5d-b59a-b5fb9de02d70 CLINVAR:2226 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 693e48e5-4b41-4fc5-8a5f-2a858d73cdd1 CLINVAR:2226 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b8109e0-a4aa-4c41-aefc-c5dd0a863acd CLINVAR:182978 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe8a4f0b-5465-43c3-9f5d-968ad7a5f343 CLINVAR:182978 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d044a9a5-4006-48bc-a542-8367b261d7fe CLINVAR:988847 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 433d019f-6f6c-449f-a5fd-822bad440bac CLINVAR:988847 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae8e66f9-d2fa-4f33-a754-b1caab7216af CLINVAR:1014459 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe445356-2b55-469f-a4bc-d68dac745e0d CLINVAR:1014459 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee69ed2c-3d70-4bdb-925d-d5365c26f4c1 CLINVAR:464003 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ced108f-d8ec-4f66-a33a-5037da3f5530 CLINVAR:464003 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 186056a3-f9ad-4e63-ac07-4965e8f8573c CLINVAR:1125165 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5735fc79-6c82-449a-a973-b2b0daa97ecb CLINVAR:1125165 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1c25ba4-c14c-45aa-b9df-36946bb926f6 CLINVAR:1025166 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b779d9e-3743-4770-a3ed-1427fc3ecabe CLINVAR:1025166 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7708e1ff-6c07-4fa0-8781-2222cdbc7e0b CLINVAR:239050 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd9b9119-a66f-4d45-a1a4-5cab9a104990 CLINVAR:239050 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ddf29bc-d242-4522-9dba-b1b07313f909 CLINVAR:649370 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89f8e622-e2da-4fbc-8800-a9e6cfa6b3c4 CLINVAR:649370 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26f1050e-cd5f-4a3f-b362-6d8811c95101 CLINVAR:1009786 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3ebd48a-da27-414a-985d-ec7f0ebb08cb CLINVAR:1009786 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa58c8e2-8b7b-4dcc-b096-f516eaedaf2b CLINVAR:1077574 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25aa6e3e-379e-40c2-a6a2-d79d9d29be73 CLINVAR:1077574 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fa3acde-9718-44ad-807c-abecf2369190 CLINVAR:1417068 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b08c0a1-6e66-4318-9ac5-c99b5213bbd5 CLINVAR:1417068 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d046bf4-3250-4526-ac6d-341fd17851d8 CLINVAR:2417866 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b80d8b9-80d0-4c60-93ea-d2fafb112569 CLINVAR:2417866 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 305481d2-db5c-43d5-a00a-b86178e0f124 CLINVAR:1524897 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dde8838a-02df-43f6-b0ab-a3e678cfd4fb CLINVAR:1524897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aec92cc1-1099-45be-a1e6-16658c704c25 CLINVAR:1496240 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86c10a77-d722-4468-a71c-da77c769c98c CLINVAR:1496240 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdaa8857-b457-4991-b6dd-450ddaadace5 CLINVAR:2071711 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1dad4c09-b6cf-4629-adf5-b434c01eb8fe CLINVAR:2071711 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3bed089-94b5-4fce-9a06-75787fe0ba61 CLINVAR:1321699 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1cf9c49f-1630-4d7d-b165-cac5cc1efb1a CLINVAR:1321699 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31a7ea0b-2cfb-4f80-a8ec-eea276a5984f CLINVAR:1374525 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76eb7139-3b44-4624-9d97-4c1234cbfdc8 CLINVAR:1374525 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3418cb58-5073-4b57-b67c-ba114f474d6a CLINVAR:964908 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 624d5008-c31f-49fc-b77e-e543ecf5c458 CLINVAR:964908 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdac1991-def4-4298-9aa6-cdf3f4833ffa CLINVAR:1052351 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c194daa-63d3-499b-8558-d55eb9b5776f CLINVAR:1052351 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3cf2a01-faeb-476d-a254-d1a5bc624dd9 CLINVAR:1348351 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c56f9c69-084a-4be6-9456-90683ff6d2e4 CLINVAR:1348351 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e12d3be2-d24d-4a08-ac1c-634c71c70b85 CLINVAR:1723808 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 234adfea-03c5-4162-ac6f-e29fe1517249 CLINVAR:1723808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3df8864c-6277-4931-8d19-0bf87f1cee10 CLINVAR:956982 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed728a52-3c0d-4f70-88cc-f55f10bc3c83 CLINVAR:956982 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28dae7d8-6774-413a-8cea-e18ca2f32f74 CLINVAR:2163996 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f40464e9-fc52-4549-91e0-05c0e80f43f0 CLINVAR:2163996 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37c4e1e0-5100-40c5-a9e6-f4609ca40850 CLINVAR:837795 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e55900e-0d21-4223-83e4-c93d72e78007 CLINVAR:837795 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bb46d30-d1ac-422f-bf50-9aebdc053d06 CLINVAR:1396766 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78fd747a-2414-478a-8dbd-b65350bf7d67 CLINVAR:1396766 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ccb49aa-7e95-4f82-982c-6b9759e31456 CLINVAR:532667 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72ec3981-fd2a-416c-af55-b0214d0b799e CLINVAR:532667 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0be6aadb-86d6-4f76-ac89-c1b9cd3b0668 CLINVAR:1010913 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1c9b354-34b6-4040-b940-4aad1be97c76 CLINVAR:1010913 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbb22030-6a23-4c94-a525-dd0e2c940bab CLINVAR:1022052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8f433c5-f177-410b-93d6-676b90896122 CLINVAR:1022052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a07f0a9-90da-40a0-b682-600e680470eb CLINVAR:837567 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee20b9d9-5ae4-4a96-8432-175c85316293 CLINVAR:837567 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4e8f85d-7524-4658-9cc6-d5296931e1fe CLINVAR:2150091 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05ca0d32-5843-4d32-a2a1-32ffa54ad3b5 CLINVAR:2150091 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71d67f74-5216-488c-bb42-9efebfd6fa8d CLINVAR:1951250 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 528a12bc-af19-4069-b110-22880bb25c82 CLINVAR:1951250 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ee3867f-8556-4da3-8ae0-83a53df44ed9 CLINVAR:1533052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6d2d305-120c-45dc-962e-ad94c265deac CLINVAR:1533052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72f4006b-91c3-4f89-abfe-1793c22d5530 CLINVAR:2060504 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec5e0626-f4de-4b5f-b65c-6a9b4dce3859 CLINVAR:2060504 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34dbe529-cfb3-4aa1-b6be-77661fface46 CLINVAR:1514344 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6bc487b-605e-4465-9e93-bb79982e7b98 CLINVAR:1514344 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bab3867f-cb11-4dfb-b7ee-4b52f7f2e171 CLINVAR:2002578 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba63d115-9e82-4ffe-a11b-9ae010be88ef CLINVAR:2002578 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23448c73-34ed-41bc-a8ec-d1634cdbc170 CLINVAR:960077 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a55dea82-dde9-4b8a-9346-6ef810e60ecb CLINVAR:960077 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9370860-05f8-4ea0-a639-c46905867f10 CLINVAR:999481 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 923e0258-fe88-46ef-9146-fa300f02463b CLINVAR:999481 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13c3fcd4-980f-4161-a8a9-23b6ef08d3f8 CLINVAR:986424 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e88e6cf-49d6-40c1-bd62-290cabf06f5e CLINVAR:986424 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1df2bd2-1e04-4e27-9307-7ce5b1deb873 CLINVAR:9596 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e160e35e-a360-4f53-b1e7-8245c8c1e8e8 CLINVAR:9596 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6899e145-18b9-41a5-8189-c599a68b11c1 CLINVAR:689929 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0d824bc-86ce-4f33-a109-859b71e66f3f CLINVAR:689929 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd9b5e1e-e017-4c69-9737-cfb9e04383d3 CLINVAR:1679204 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63e0e13c-e716-4e79-9036-9517daf0502f CLINVAR:1679204 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f425d6a-6a9e-40a0-8af4-e8d37f4db8a1 CLINVAR:430689 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b5305cb-79c5-4fa6-8011-8e1ed4cb7b89 CLINVAR:430689 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3311e487-3a1e-4d1e-923c-f5c8248e5f00 CLINVAR:636202 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9355bc91-4cf8-42b0-b546-d2d2c0114d32 CLINVAR:636202 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c538836e-7e11-409a-b9d6-3a5449174759 CLINVAR:870345 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6378c3c-7ee5-4302-be64-b9478fbe059e CLINVAR:870345 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdb18acc-8342-4def-8bd2-6d729be0d02c CLINVAR:2678439 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a4df2d41-3ff5-4c1a-b192-fc456c85f805 CLINVAR:2678439 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7d26fa2-e196-4330-9c95-bf390465731e CLINVAR:13115 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c67cdc59-d6e3-4532-839b-c79cec2a67cd CLINVAR:13115 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0f20d81-a284-4694-ab73-e75cdc38d7d0 CAID:CA2580612188 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen efacfbd3-b5a4-4b6b-b375-3fb05ff4424a CAID:CA2580612188 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6af9c160-60dc-46f7-aeab-ca1a1df0a49c CLINVAR:98868 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d2c7bf05-96a1-4824-a716-026480466b83 CLINVAR:98868 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6d5dfeb-1ee6-4f88-98c2-77ba49ded77f CLINVAR:812758 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85a36856-6f37-433b-b36f-7b886c6cf7ab CLINVAR:812758 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6a06c36-72f1-41a1-b3a6-ad3c1edda1e0 CLINVAR:874235 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f572a189-be6b-478d-ac2e-e82040693c9b CLINVAR:874235 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 484f5146-2a6a-4f7e-bf42-0f9dab8491ba CLINVAR:298022 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1c0b4f1-6a4b-4769-8be0-fd4fa7b06c58 CLINVAR:298022 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe82c1f8-4eff-4a4c-aaf6-c950767544c8 CLINVAR:98843 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7686c084-a05b-4b9c-9a20-60446239148f CLINVAR:98843 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c36c4f2-b47e-4ab2-a300-9b9e175f687d CLINVAR:235698 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21cd79da-baa8-47ef-87d6-1a697ed7f157 CLINVAR:235698 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ca135b3-760e-4449-9fff-d1965bc67530 CLINVAR:39575 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa86dd3f-b8e4-4383-8ca8-7379de18aaf0 CLINVAR:39575 biolink:is_sequence_variant_of HGNC:7499 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3b12811-0cda-4952-a866-4b95ec000964 CLINVAR:618222 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99b5fa8c-8982-4846-9497-170215d6c8f5 CLINVAR:618222 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4027022a-e455-40cf-8274-405af0a4e916 CLINVAR:9682 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45c1edb8-4ec7-4d59-a054-91fa961aca58 CLINVAR:9682 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce84725d-5976-4fa1-9d8f-ee02f76cfc65 CLINVAR:9680 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a2e1c35-d021-4863-b183-94fc374913c1 CLINVAR:9680 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8dbc8c5-7037-4fc7-af21-4b18de629d09 CLINVAR:949591 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a7831ca-2343-4dd4-b3f9-922ca0bcb4a6 CLINVAR:949591 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e3862e2-d2f7-41a4-be5b-ef261a5d2aa8 CLINVAR:2088789 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 257bcf19-05cc-43f0-b581-1419dc4c5033 CLINVAR:2088789 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b1598e5-cb3e-4730-80be-f1d4621b9265 CLINVAR:2089191 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1ba2ec7-e7cd-490b-b861-6586e002fa95 CLINVAR:2089191 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e7cd0ae-ba68-4709-b0dd-8dc073f374c2 CLINVAR:1024911 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a77ba481-c4f6-4f00-9140-35be11a8d72d CLINVAR:1024911 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 340c5808-fe7f-429c-9d92-323a53d0d157 CLINVAR:2078130 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64aeffb6-d4b4-4e30-bdcf-036e4382cea0 CLINVAR:2078130 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15e8c03e-0cb4-4e2b-9ea5-efc83deffc66 CLINVAR:2151600 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 018fb72f-62b7-42f6-8896-cdaf2a188092 CLINVAR:2151600 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f457312f-b1e3-4d0d-b1d3-24034ace4b0d CLINVAR:2089328 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0fef0f6-32a3-462b-84eb-87c38ee16151 CLINVAR:2089328 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 669c0ce0-1b05-44d9-8c2b-21f6ec9d99e5 CLINVAR:1986052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55d257d3-d453-4d3e-8cbc-e19c8c913fb1 CLINVAR:1986052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29bd1e72-3de5-4b87-a5f1-3e5e4fe26d66 CLINVAR:988809 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 868b2f3b-ee1a-456b-898c-f95e23e66c3a CLINVAR:988809 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd7b0483-e1ed-41dd-96e9-10f643bd32e4 CLINVAR:2094507 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc45acfa-16ea-4c50-9fac-71febcca9ca1 CLINVAR:2094507 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbdf0c79-649e-497b-bf73-c29df86ab61d CLINVAR:627100 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12ae55b8-97d6-400f-80ed-ea5e619f23c5 CLINVAR:627100 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2748f6bc-dc3e-441c-acb5-fb720bad41a8 CLINVAR:660565 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad344e73-4780-4b7b-acfc-ec7737f3f92f CLINVAR:660565 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14b4cb1c-9a04-4345-bd66-e1756d8c7800 CLINVAR:1684453 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d8ed698-eeed-45fb-aca0-0379a2495873 CLINVAR:1684453 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 736dab01-9dcc-4d62-bff0-6aedef23f4be CLINVAR:935114 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9217851-da99-4079-bc92-1488d501fc6b CLINVAR:935114 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 785105f9-b2e6-42a6-9ed7-bc8957d90d25 CLINVAR:1466432 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00b687a1-23fb-4de2-aaa0-16f55593a0eb CLINVAR:1466432 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a47be80-9b7a-49b5-baa2-5b652b85b540 CLINVAR:971877 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d298cf09-adca-4098-9cad-6db70f3203eb CLINVAR:971877 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad5dfa16-844d-4153-aab3-62b801686768 CLINVAR:839213 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 31422a5a-e837-4704-b6d2-9281a1215a0e CLINVAR:839213 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce5a77e8-9d6c-405e-9c19-fd9b0ec2bec9 CLINVAR:1382220 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0915d30e-4be1-42d2-b0cb-34de710aca2d CLINVAR:1382220 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49f16436-9a2f-4528-b258-af51c7229b7e CLINVAR:532669 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3905e5a9-746e-4995-b288-b4d042265311 CLINVAR:532669 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3b5091b-f6bf-4875-8743-5f12c86a3449 CLINVAR:2126194 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84d84278-2b87-4c49-a1c2-f95ed8957da7 CLINVAR:2126194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6873e625-e67b-4878-ae81-5d592939f832 CLINVAR:532670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 600fbf0d-a90f-49ed-af0a-f811ddf859b3 CLINVAR:532670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5d199ff-b79e-4772-b472-d2bea783b8a7 CLINVAR:2076125 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 556487be-ae42-4adf-b80b-918fad553bf4 CLINVAR:2076125 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efe1f605-91eb-46a9-a8cc-57266c8eba15 CLINVAR:838046 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02aa3989-73da-41b9-884a-201a25957715 CLINVAR:838046 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bd38da4-f87e-49d5-9b77-fd8c7ab578d7 CLINVAR:1713291 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6647b032-15fa-4bc5-b58b-1759a4ca8f53 CLINVAR:1713291 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf4472c4-c7a7-4652-856d-57f6ce7def30 CLINVAR:532652 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7242f98-fbb8-460d-a2b6-dacfadb68cc1 CLINVAR:532652 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4f888a1-0f07-4cfa-a4ac-859d080f07ea CLINVAR:1711954 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e6222b0-cae9-48e5-9cfa-0dd933fbad3b CLINVAR:1711954 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 283faaac-16f6-40b3-99e9-469853248ad5 CLINVAR:2183638 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 895e291d-ea9d-4585-a1a8-af24a63d2e25 CLINVAR:2183638 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 730d818d-1212-4374-b92b-d60cd5b6f902 CLINVAR:939981 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4247aa81-3b95-40ba-9fab-0d54496dafb7 CLINVAR:939981 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89da4941-b3a3-4fd5-818b-254a621cd730 CLINVAR:1716418 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20bf8b36-1e7a-405b-a2ca-4a95411ff588 CLINVAR:1716418 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00bd9a38-7223-46ca-824e-8265aa945bd8 CLINVAR:953427 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29888eab-0ff6-475b-b1eb-dbbcec433fdd CLINVAR:953427 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e01aade7-7ec7-46d1-8bda-8d2fe6c3806a CLINVAR:651472 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f39f8b2-e30a-4ad7-87c3-0a4d33629948 CLINVAR:651472 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f1f2029-ecdf-4576-9d96-d2696bd323e4 CLINVAR:1055114 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9daf141d-c59f-4769-aec5-a9f030e7b1f8 CLINVAR:1055114 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5394c3c-6155-4e9c-a564-24871605f477 CLINVAR:1951248 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe373280-f9fa-4f37-8e90-12bb8499ea06 CLINVAR:1951248 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b423b91-22c8-4a18-afab-af9b4fc9c65f CLINVAR:2089097 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbcc0ac6-819f-459e-b334-ed8b75d5ef6a CLINVAR:2089097 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49eb7f77-7417-43a3-a1e3-57eacea46a2a CLINVAR:436612 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a4cda19-303d-480a-9763-f386de3d7d46 CLINVAR:436612 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad0c028d-41aa-4ff3-a6f3-417de54da5f6 CLINVAR:1521966 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5dd307d5-edc7-4ccc-a7f6-c09a39831e4d CLINVAR:1521966 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5c6768f-d3cb-4472-8e0b-337b48998d13 CLINVAR:663526 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24a7781b-600e-4333-ab8b-7e4e5057e04e CLINVAR:663526 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec4a2b61-b8ee-432a-af5a-d54d21967513 CLINVAR:665375 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f4c2883-8373-45a4-bc9d-2a9ecd407603 CLINVAR:665375 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 207f557e-eb74-4e39-8b80-78f47de91a9a CLINVAR:1475629 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fdacc79-2143-4586-827b-01836d11feba CLINVAR:1475629 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ebedc09-b691-4682-913f-84479b69d598 CLINVAR:30003 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fcb11241-3da2-462a-bd5e-a6f3f5a1e27a CLINVAR:30003 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23df6545-0948-486e-85bd-0db187e17db0 CLINVAR:36365 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c2f2ad57-7cf2-4a46-a4b0-ef433609d9f7 CLINVAR:36365 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d026eaff-4c9b-4b65-9ab6-31eabfa01d3b CLINVAR:827573 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2fc640a1-ff37-4722-81e2-3d90c1f9993a CLINVAR:827573 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04d720c4-94ed-4f0c-a4e4-b3776de4ccbe CLINVAR:8757 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fffc0c88-55ef-4698-b120-c9068b6a52df CLINVAR:8757 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bdf9df9-b92e-478f-a1be-10cf79ec3b8e CLINVAR:1517590 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1561423d-4926-40b4-94de-4b861dc854cc CLINVAR:1517590 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01ecd6bc-80a5-4ae5-9857-c88cdb8eaaba CLINVAR:827574 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e848de41-e38f-42f5-9b27-32f4b4642790 CLINVAR:827574 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37451842-5797-4f67-a2ef-94b29fc09ee0 CLINVAR:869415 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad0f1e70-9e5e-4788-8248-d754eb4dd87b CLINVAR:869415 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45f95d6f-8d98-4986-8c98-e4133f93e9f7 CLINVAR:852208 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ca26eaa-8265-463e-a7bd-8d803ae2d3df CLINVAR:852208 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e211141b-91d0-41ce-b667-cae0127fbe35 CLINVAR:644342 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9bc78104-8551-4c57-a4b3-c653ba605d07 CLINVAR:644342 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 205331da-95ee-44a0-a54b-3ebd723e3e1d CLINVAR:827572 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 67af39b8-25b5-4428-b78c-380150c71a9b CLINVAR:827572 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9c9a9b9-9009-4b6d-83c6-a147c2ba7466 CLINVAR:656631 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d6aada0-3e33-4e25-af33-511c41d39ed5 CLINVAR:656631 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06629bbf-886f-40b7-b65e-ccc5cb2916a0 CLINVAR:1610976 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92a3cb7c-de2c-4192-9155-0a74cf39ec37 CLINVAR:1610976 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aeaf21c-9217-4b7b-afad-9629c9e8e2fa CLINVAR:392379 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 89a610db-c78f-4f9b-afd6-657fb36b1fae CLINVAR:392379 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e07191cd-c530-4604-aad5-88828cc53262 CLINVAR:422945 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f362ef1c-faaa-43a7-b3b0-a30964820045 CLINVAR:422945 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e690f8b1-fb1b-467b-ae7c-277fde7c52c3 CLINVAR:858136 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e7aadfc-dec4-4bfa-a58c-1a58c46cc464 CLINVAR:858136 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3910717e-c101-480c-905b-cff7d2a2a41c CLINVAR:423100 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2dafbc05-a0c8-401d-aca8-39a754b51cfa CLINVAR:423100 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf0bf2ab-645a-4da5-bb76-8cd1935f685e CLINVAR:536427 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec1d89d3-fd5c-4f30-88fd-3a7d929e7e41 CLINVAR:536427 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ac8e2bc-1dcc-4a35-a801-cdac9f229ac1 CLINVAR:1199408 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fbbd51d1-093b-494a-ae39-0efdd57deec2 CLINVAR:1199408 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6b32c2c-3926-4a30-a894-7d401824b984 CLINVAR:418218 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38a44394-643b-4f64-89df-8b7e8fd56a6c CLINVAR:418218 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a1f02e0-9c19-4cdc-a6c7-85b90a472d65 CLINVAR:2108802 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 852e4219-f498-4abc-a32d-09e6f9d79643 CLINVAR:2108802 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da986f50-54c6-470f-bed3-938cc993e461 CLINVAR:660886 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4334f8e8-76cc-485f-b2f9-95a3a0ed5785 CLINVAR:660886 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffbab3ae-1937-4a3f-ac02-4b4ef347899a CLINVAR:665887 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd707121-ddd8-4039-9229-ad8a1c50d1ac CLINVAR:665887 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddac33d4-882b-4ae8-8f42-dca3097ab006 CLINVAR:827578 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3de9a88a-3ccc-49b0-9163-361a75826fde CLINVAR:827578 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe3458f2-f389-498a-9c8d-f27739b047f9 CLINVAR:626107 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3db7f9bd-0740-4a55-8e85-d17b43a9f9d2 CLINVAR:626107 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3242062a-bd3f-4e11-8fc6-a0b1af2726fc CLINVAR:1048525 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b0e8a2f-7779-4363-accf-6af36d4b0de0 CLINVAR:1048525 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b698b236-57b6-4824-86b6-54a7bdb6f441 CAID:CA398323709 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1510cc81-6a43-4f5e-bf84-874ae6358a22 CAID:CA398323709 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08dee252-b349-456d-be45-ceab656ef101 CAID:CA2497028945 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d3e7fb67-0814-4bb8-9064-d13c723e675b CAID:CA2497028945 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 233f2d35-bcd1-4e5a-889d-a3c00bcc03f8 CLINVAR:2726823 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9be01ace-28d6-4c3a-9ef8-68c8ff6087b7 CLINVAR:2726823 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c9b303d-324e-41cb-84db-394020e5683e CAID:CA2573320470 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc86a5c0-b144-42b5-9f45-594e918a41fc CAID:CA2573320470 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba5c9eac-4e8b-49f4-b2b5-51d734faf861 CAID:CA2740089966 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd1ad235-9685-4ef1-a234-9ff3b428ecfe CAID:CA2740089966 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2e7e8b5-a811-429b-beef-98b1ab68c28b CLINVAR:1456275 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 41488cd2-6ffe-497b-b077-b1dc01e66d4b CLINVAR:1456275 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e464cabf-68bf-485a-9769-8591e2530b5d CLINVAR:412056 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34a5ed45-d730-4a0e-a934-2dc214514f81 CLINVAR:412056 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46c6e4a6-228b-4226-b5d5-b32ae7af0942 CLINVAR:1723516 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b511b500-84d1-48eb-9af5-1e646afc1342 CLINVAR:1723516 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e7f8754-52f3-44a9-8697-62ed11814733 CLINVAR:143774 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57a6ce2f-77a9-4d6e-ac0a-d37c0dc86bda CLINVAR:143774 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebc32e4b-7218-4467-9e85-7743e4d2f754 CLINVAR:162370 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11adadb9-ef0d-4f37-b64d-2183acd9851b CLINVAR:162370 biolink:is_sequence_variant_of HGNC:7475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48c30806-cde7-4af8-83d0-c7ae7f9416af CLINVAR:9609 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3bd7bac-8491-4192-8a87-1bb46a13a8fe CLINVAR:9609 biolink:is_sequence_variant_of HGNC:7487 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49b85147-bf2d-4829-81ad-a289f1571ccb CLINVAR:2018786 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f0e31b3-9929-4cdf-9ee0-82addfb3da43 CLINVAR:2018786 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcf7b9fc-2dbc-4529-995e-d47a920162c2 CAID:CA386965264 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf854522-2afd-479b-8843-51387f6459fe CAID:CA386965264 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bee042e-4f1b-4109-8a31-71fc155a7a8c CLINVAR:36801 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f0250bc-605d-4a41-b7be-6ebdfae90d54 CLINVAR:36801 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c89e48aa-fff3-477b-b861-3e14076a14fd CLINVAR:562466 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1dacee1-0c36-48f8-961d-2ed39a6bebc0 CLINVAR:562466 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74006b8d-86eb-4a79-a662-9a67e68e47a4 CAID:CA386972269 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 07a92d32-bf0d-4b13-9d5c-fe9bad57d368 CAID:CA386972269 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f77cd661-827e-4d3a-966e-849088a26a50 CAID:CA386973449 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 038c0088-9ff7-42c6-a9fa-212caaf89075 CAID:CA386973449 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7060370f-99d5-40b0-807d-fa072ce4b540 CAID:CA386973446 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 045e4d92-2769-45fa-b45f-6cc1133f1e63 CAID:CA386973446 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bda465d-d259-45cf-9016-2bc0043f5db0 CAID:CA386972734 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 71c61cfa-aa36-4253-a7e0-87afacbd8411 CAID:CA386972734 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8162bb8-34d8-4fe3-bd50-ef666f88d401 CLINVAR:14932 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c683caa-a634-4f3b-b8b1-ee5a079999ba CLINVAR:14932 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc8d7358-fdd4-4d7e-9cf3-8fea45756f8f CAID:CA2573051047 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7770a323-074f-4e91-9f11-f2337731112c CAID:CA2573051047 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baef4cf3-6bc2-4fd6-b27f-872bb819d1b9 CAID:CA367402230 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e04d851-52e6-46eb-b6d9-817161e5f5f4 CAID:CA367402230 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b9e84dc-2cfd-4f02-a1b3-936381941ffe CLINVAR:1438546 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 32470aa9-53dc-4bf0-9c23-a7e131acc764 CLINVAR:1438546 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31bc573d-d08d-4bd4-882e-c7aed754c40e CLINVAR:1338044 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e88890c-80ee-4ded-88c9-257f75ac1211 CLINVAR:1338044 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84544a21-61a4-4247-9c13-b475ef616d5f CLINVAR:409824 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ae617ecb-a580-47e9-9043-c057fed5cc64 CLINVAR:409824 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59e41ead-5544-4cf1-89e9-733f28c6a6e9 CLINVAR:934175 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9434f2e2-eb9a-42dd-bb0f-a6c7ce68761b CLINVAR:934175 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 058d2ebb-cb70-4ada-a1f0-474c6241a80e CLINVAR:1323540 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be42487c-d6b0-490b-ae24-ce7e3a79d1f3 CLINVAR:1323540 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08c46eb5-4c4d-4296-ac32-8548f781fef7 CLINVAR:1338557 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a6864d4c-50bb-4117-937c-d21e1e632afe CLINVAR:1338557 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70341ee5-29c9-4b83-96b7-e37954f0b4a8 CLINVAR:640778 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c43d6d59-a9e5-40fe-a19e-5b56ae448b99 CLINVAR:640778 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f52ffa4b-9c27-4b9f-b82d-c00145894596 CLINVAR:409819 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45b46c98-ae01-40d3-b201-498b541f7cbf CLINVAR:409819 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5aef37a3-0c1d-49d2-8dd3-4d378e952b74 CLINVAR:1052786 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b4f00d1-080e-4742-9c38-804fb2a671ff CLINVAR:1052786 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1715d4de-db18-49ea-8d71-a11dcef227a9 CLINVAR:858848 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab3a807d-657c-4400-8c50-d51b04693c1a CLINVAR:858848 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8001152-ec2f-4e05-8fc8-c3baa6b3371e CLINVAR:2002610 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ec73160-0099-438b-b258-7d8711d15881 CLINVAR:2002610 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36297aa6-89f7-408d-8a72-40949c506397 CLINVAR:2126320 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc5306d2-cc0c-4b7f-965b-4a1100015da9 CLINVAR:2126320 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3bdd7cf-42c9-443a-a8fc-2de0e639604d CLINVAR:1718102 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25e6ff69-ec0a-4e13-8911-cc41333ef9be CLINVAR:1718102 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce5b27af-9941-46f8-9400-6c8b035d3a34 CLINVAR:960066 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08a937ab-4ec5-45d7-b795-fb6196599ddf CLINVAR:960066 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f337b292-2b59-4541-a90c-4237664c6403 CLINVAR:2062797 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0760cbf-8120-4b06-8eb2-92cb2af5da7b CLINVAR:2062797 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05b34db2-dae5-47fe-b489-871e919215a3 CLINVAR:1003215 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 90b7608a-7e2e-4c15-a12e-6fbe1214c2eb CLINVAR:1003215 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9221065-a843-4d8b-9434-a9a24d5330a9 CLINVAR:2116304 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62b332d0-3363-46a4-bc34-f986c9a23e51 CLINVAR:2116304 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e78255c-d8b9-4302-8c51-c12e972fcdcb CLINVAR:1972477 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b71f025-1e8b-4664-b89b-d9bbf1abb8b1 CLINVAR:1972477 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dadec030-6c58-4be5-9950-d323aedc5f75 CLINVAR:1471430 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a857ed8d-5eed-4774-a930-7ad3a5a19053 CLINVAR:1471430 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b2c62b1-672b-4cca-90c1-b7eb0679bbf1 CLINVAR:1067421 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c36e492c-9eff-4a7f-8b21-c96ed0a94832 CLINVAR:1067421 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec790221-a307-4414-9ba6-a69494ffcbc2 CLINVAR:409806 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94d6f93b-9cbe-444e-b930-7f77e492072c CLINVAR:409806 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c36ef48f-3d9c-4c6c-be74-2372f2f0f1fc CLINVAR:1999266 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e384750c-1c6e-4bd8-a309-8c85db1a2aaa CLINVAR:1999266 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9895cd1-250e-452d-a3e1-e4bcf4dbe25f CLINVAR:1040855 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81530a37-752c-436f-8d38-ccc359eb66e1 CLINVAR:1040855 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e576a46e-f480-4139-a85c-2762e4a8da3e CLINVAR:649413 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dee751ca-10af-487a-bdeb-93a313d0404b CLINVAR:649413 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9839aa1c-6286-420c-b49f-3a8b729c4cdd CLINVAR:2011243 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e61f4169-57b1-4596-936c-58293f01c044 CLINVAR:2011243 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad1d48c1-81d6-48a8-ba7b-4437f3ea9cca CLINVAR:1937674 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d0234fa-2299-4b47-8148-e21aa6c3203c CLINVAR:1937674 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6632b1d9-385c-4ba2-b161-8d320d5a0abf CLINVAR:2008544 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95e8a5ce-ffd2-4725-bef0-9b1b70eb4803 CLINVAR:2008544 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 573d0423-7dd9-4313-86e8-25c850736c8c CLINVAR:579883 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9b1a97c-5aae-4405-8106-db385945a67a CLINVAR:579883 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69182d50-f1a3-44a5-9d66-a598b751d788 CLINVAR:2029145 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6168e15-780b-4780-b2e8-1bb23ef2d0e0 CLINVAR:2029145 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c223772-563e-445d-975f-279fd27f8826 CLINVAR:2029256 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3069731a-a766-44a7-968b-6a1051a63b74 CLINVAR:2029256 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2f2183e-bab9-4cc0-9ace-63735aec9abc CAID:CA410202496 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8ad5a19-5477-488e-a325-fec4bf9a18a8 CAID:CA410202496 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8db4b5d5-2b3e-4c66-adf7-3dc3f38155ab CLINVAR:854130 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d41c90d-7085-4a22-be7f-fdfbefda25af CLINVAR:854130 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5c42307-f87a-49a2-88e8-21b7ae09a814 CLINVAR:1381966 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6842f1bc-7be5-4eb5-b8b4-d3eaff5b7798 CLINVAR:1381966 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6063c8e4-a0d4-484c-bd56-62bf0a3e5f22 CLINVAR:532653 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87bcab2a-4635-4b31-9ae8-43de4eed8c7b CLINVAR:532653 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12edf44d-00bd-4331-8fe6-feb1337cb983 CLINVAR:1130279 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c141e221-d74b-4121-b046-871a0bd640f4 CLINVAR:1130279 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84bb347c-49ba-4465-87c8-15db7da040a4 CLINVAR:464007 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3813a8ce-a017-4efc-b3ee-d7a1b704fa29 CLINVAR:464007 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2007930-32d6-4165-88b6-951406cd458d CLINVAR:581130 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a2c532c-054d-4603-ae7c-71fbbf063906 CLINVAR:581130 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc73e1da-9460-47ce-8196-c3dd13652702 CLINVAR:661459 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e9d8929-56ad-4a40-b7e8-83cfdd7dd4fc CLINVAR:661459 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62618591-3f51-4310-b925-976533123a91 CLINVAR:262915 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa870ba9-409d-4a1f-829a-1cef17d22d1d CLINVAR:262915 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a916f842-1a75-4501-a8ac-0752fda81d92 CLINVAR:424599 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2abbdb8-420f-4ce5-ac1a-cc7f018b8ee1 CLINVAR:424599 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8007c6a-fee5-4aef-a78e-bfe15d7952d9 CLINVAR:987830 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a268cf7-31ec-4b7c-992b-4f6e2c9a5c7f CLINVAR:987830 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19db051e-9065-4be5-837a-6cd2ac03a9b1 CAID:CA414914390 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e6cbadb-ccef-4017-89c4-6c2d9f413b6a CAID:CA414914390 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b449b0ea-a108-45c3-99a2-bd192913f092 CLINVAR:10606 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1fb4669c-689f-49f7-8cf8-ac7ca56f3fa5 CLINVAR:10606 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8aabb904-5963-4145-a89d-c1642fca0ffe CLINVAR:376647 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c58cba9-b28a-47f9-ab5d-56f92e35a0a8 CLINVAR:376647 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ebbef79-e40a-44ee-9afd-d20f804bc68b CLINVAR:9558 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a536be9-1541-4ed5-a01f-e9ce262b427e CLINVAR:9558 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49bb51a0-beb1-4e44-b35a-95bbfc695db8 CLINVAR:30002 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 104869e1-ccae-480e-8a10-3a9d2f1721a7 CLINVAR:30002 biolink:is_sequence_variant_of HGNC:7477 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58112aee-222d-4b74-a1f8-fce497219323 CLINVAR:9598 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f96334ba-553c-4a23-baa4-773074fae315 CLINVAR:9598 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec1f4e90-e831-402d-bac1-26cbf0c07a16 CLINVAR:870573 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52d24c33-727a-4fac-900f-d721fc7f73cd CLINVAR:870573 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb3498b9-9c19-48ee-8f6e-26d4a9c6f05e CLINVAR:9575 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b135378d-3bca-44ef-8eac-02e0dd1ae38e CLINVAR:9575 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3d0da9e-4745-4e09-b204-6ee6c0b13660 CLINVAR:690090 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0598dde-e315-40dd-b449-073aaea0b4fb CLINVAR:690090 biolink:is_sequence_variant_of HGNC:7486 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbd5bb6e-4259-4aae-94c2-97142b9f986a CLINVAR:9611 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79bf4bb0-a9bd-4eca-8842-3d46e15a591a CLINVAR:9611 biolink:is_sequence_variant_of HGNC:7486 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e937d10-f707-4060-ab51-8f2d197c9869 CLINVAR:289 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b941ccf5-a555-40c6-8bba-13ad531905c9 CLINVAR:289 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26d50c16-8198-4c0c-8acf-9a796b4823ab CLINVAR:309 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7828e3d3-f503-4453-8bc2-b5c86c259465 CLINVAR:309 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3cb7abd-829d-46e9-8b96-d6b8cd34bb2e CLINVAR:31009 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9884e35-a043-4894-b10e-7cedbb0a3835 CLINVAR:31009 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8402a3f7-2cb4-46d6-8d89-ebd5495eaf7b CLINVAR:100503 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f78476d-473e-4857-ab3c-d981d580415f CLINVAR:100503 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8754e481-953f-4f0a-90d8-fb84dd980683 CLINVAR:302 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9391897-87e8-443b-8371-1aac0b6f0925 CLINVAR:302 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9307e690-853c-41f3-b2f3-3994bbc50867 CLINVAR:295 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5775b13-8ff0-42ab-8802-64b7efe66a7b CLINVAR:295 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ab688c2-1f8d-47d8-9a84-82606ff93cbf CLINVAR:296 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8443901e-876e-4f26-b384-a68e14808c8c CLINVAR:296 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b08b347-6ff2-46a1-bb1c-8bb1e06034a9 CLINVAR:100220 biolink:genetically_associated_with MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 017ff85e-2114-4c25-aa49-cf6ca9924486 CLINVAR:100220 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e2c7c3d-c9d5-4115-86dc-5affbeb069d7 CLINVAR:209173 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3bdf697e-d73a-4a58-89a1-d0da3aeac763 CLINVAR:209173 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50d07f9c-26cd-434d-83b6-d59e0cf5b429 CLINVAR:1703401 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c989f29a-ee1a-4056-b68b-eacd3f041be3 CLINVAR:1703401 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb4e69cc-ce3f-4b89-bc3c-8f2e3d471b9c CLINVAR:288 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a0bb6e6-5bff-409a-88be-33ca76c43660 CLINVAR:288 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7753cd89-2cb7-45a6-b958-21ba5a8dc5d2 CLINVAR:9690 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad4dafc6-3783-4a73-93ff-0fc3a3d480cf CLINVAR:9690 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70f1bec2-07ca-446a-ad1e-79f5bdd8b3e8 CLINVAR:290 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34aa6e9c-b55c-433a-bb8f-dc6a05e29bfb CLINVAR:290 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc52f940-c343-4b9e-aa98-902dec06ae3f CLINVAR:374080 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80161370-e92e-4f91-a87c-436b27d22f20 CLINVAR:374080 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb4f9fa0-6f6b-40c7-b4fc-ff99bed25b3e CLINVAR:285 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e27111d-6500-47d9-b7c5-2d4596c9826e CLINVAR:285 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68ae076b-6f0d-4fe4-8db3-54c3e86e1a08 CLINVAR:100306 biolink:associated_with_increased_likelihood_of MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 201aafb0-ada0-4b69-b10b-ecd96a2c9722 CLINVAR:100306 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63865c22-b7a7-4064-89f3-5a137fe83b32 CLINVAR:100311 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e462719-925f-45b4-bea4-435aaf64ace5 CLINVAR:100311 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1317e31d-8498-4859-bb19-763634ec4cc7 CLINVAR:1003438 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e394fd68-e43b-4d71-bbc6-cf5aea35c4e2 CLINVAR:1003438 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f84c1f94-912c-4e19-b8db-f3161554aa15 CLINVAR:1004688 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 616dd502-a8bf-494a-a3e8-f43a6432addd CLINVAR:1004688 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7351dffc-fa48-4312-8a1a-fdaf0ff85ef2 CLINVAR:1046092 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 799267ac-dfd1-4c3a-b12c-81b51bb1c0f9 CLINVAR:1046092 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23e8e2dc-2ca2-4cc6-bbed-0b81343d6465 CLINVAR:1036141 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a252ee8-f46f-482e-a687-502e9a326c31 CLINVAR:1036141 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78308da4-d662-4c4c-88c5-33b5a80ad286 CLINVAR:837191 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3e2bdf5-98aa-47d7-bf5f-238b3428405c CLINVAR:837191 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f050491-0622-4de8-967e-3deb4dff4af2 CLINVAR:409805 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4524dc2e-c939-4cab-81f8-9e311ee7362e CLINVAR:409805 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28771352-6366-45aa-b264-025072407b2e CLINVAR:1338109 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01d3a3eb-cc96-4187-b179-cc790450a68a CLINVAR:1338109 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b22dd02c-e64a-484e-ab82-eb7ecba8e874 CLINVAR:934637 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e07208e-1368-443d-a72e-04bc75277fb4 CLINVAR:934637 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a0391f1-0691-4286-bfe1-ff2224882b8b CLINVAR:339848 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7aaee37d-8075-4653-a7d6-490b422ef540 CLINVAR:339848 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ed4ce1b-8007-4c40-85e2-dcb71e504f74 CLINVAR:943347 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d27d9b9c-df6b-4b44-b167-f80921755f40 CLINVAR:943347 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9964414-6bf3-46c2-89fa-2257cd4ece91 CLINVAR:2067048 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6f4bf58-961c-49b1-818e-dbe9d8f22012 CLINVAR:2067048 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4550867d-2b58-4a76-8b5f-b0e59e7f44cc CLINVAR:938322 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a6f397d-aff0-4cb2-96f7-f9137ee78871 CLINVAR:938322 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e037ecc7-eb92-40d6-a665-bbd594e885a9 CAID:CA410147693 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4546cd7a-32f2-494f-8b87-0c60cea87f40 CAID:CA410147693 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12c89eb3-0afa-4a22-b336-603b0f633dbc CLINVAR:1035236 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8ff8401-11b8-4ed0-860a-2a466990e548 CLINVAR:1035236 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd7c4c13-d3e6-41cc-86d1-aeb46e013b18 CLINVAR:1035156 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf45166d-7001-4236-8288-ce06b5fc3318 CLINVAR:1035156 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42fe8b5b-106d-4ab5-ae5c-ce8727730a8f CLINVAR:1023243 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dfdbc0c0-1bb9-4d3a-a71e-cd411dd84859 CLINVAR:1023243 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 536565e6-9527-4b06-b67e-c7cce62ba8b1 CLINVAR:1014442 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18f9a33c-cb1e-4c67-ac43-3cc837f6d889 CLINVAR:1014442 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7fa02e6-57c8-41e3-8429-c6da2588dcce CLINVAR:1055398 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb0a8b10-8b15-40d8-a86b-6bc969138c38 CLINVAR:1055398 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cbc0553-5f61-47c0-8c89-a346b879dd8b CLINVAR:1009232 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38e2e591-8e3d-4ab1-bff4-0225017c0a58 CLINVAR:1009232 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78d67601-602a-47b9-a4d5-db6320c53a2d CLINVAR:579777 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7c0671d-c4cf-4d35-9280-5937ec9a45a9 CLINVAR:579777 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0892706-ee3e-495d-99fa-6ca4503a6ee1 CLINVAR:517187 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7bab9305-0e3c-4e0b-8529-82dddb9cadf8 CLINVAR:517187 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 191118e5-0632-45a3-95d8-7a3f40760574 CLINVAR:568926 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5620508-938e-4b22-90fd-af8e5fd71a43 CLINVAR:568926 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c71fdbf-faa7-4a62-9d67-2cfef69d7afc CLINVAR:642864 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e84ebc4-e5ac-4bb8-bcc9-b3ee364b9575 CLINVAR:642864 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 130ca570-ed88-451b-8a8c-6e174d0af675 CLINVAR:1337164 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b034b698-bd9b-452b-89c3-e98754a7a668 CLINVAR:1337164 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50404449-d952-46b5-80e0-8724dda472ab CAID:CA410147963 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4746357-205b-48f4-8bd9-b2d19238f283 CAID:CA410147963 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b320fa70-caab-469c-a68c-03ebb6f93127 CLINVAR:566052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb1fbd92-46dd-4258-a7c7-f64c5a809c3b CLINVAR:566052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20fda7c5-a1f6-4db6-955c-d1e25106ca3d CLINVAR:532658 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f234c283-5462-40a8-af68-18752762403e CLINVAR:532658 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 919371be-b7da-4685-a391-1c689dc2a257 CLINVAR:409814 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3aaeadf-97c9-4bdd-b00d-38d45975f1f7 CLINVAR:409814 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a34f48a-a160-442a-a82d-9bc582d9a76a CLINVAR:1450492 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d5664cf-d643-4f5f-a4db-59ccc29d0dd6 CLINVAR:1450492 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c52284e9-01ae-48a0-8cd4-ae33a4d0a6d1 CLINVAR:561232 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 804d3492-be2b-4e0d-8758-05a7ac7b2162 CLINVAR:561232 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 105468d3-08a5-4d06-9d65-d53f6e1d0b3b CLINVAR:561247 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb1a8074-491f-4595-ad5a-3de86702ba15 CLINVAR:561247 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2b5f920-c1d0-45c4-a9c8-42d4a3275191 CLINVAR:619750 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1de6f3a2-cb77-4b53-88bc-0e9c77f5bc06 CLINVAR:619750 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d6daab1-497c-4fd4-ad24-bcdb02068f00 CLINVAR:291 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 62672580-de46-41d8-ad66-27975d32b3ca CLINVAR:291 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5fbc076-7de0-425d-b6c8-f072fa882f35 CAID:CA383503778 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd1c1036-0f99-4065-aa14-c4f9b5b37073 CAID:CA383503778 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 224b26bf-d32e-41a6-93cb-cb78f5e9304e CLINVAR:619752 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3729d578-94c5-44b1-be88-f8ae0cd1a211 CLINVAR:619752 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd61820a-45af-4e2c-b4e4-90d9877d25d4 CLINVAR:100343 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd0050c6-e4ca-4c3c-a372-71d3a4ff9a17 CLINVAR:100343 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62ca7956-e454-458e-823f-dead55848777 CLINVAR:100337 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff353e9a-0f7f-4306-a553-f6b2b46c4c3e CLINVAR:100337 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b764b0c-45fd-4365-b4e8-d74e67968067 CLINVAR:293 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c77d9281-5f97-4616-9d78-2d4d94fe5c6b CLINVAR:293 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1b0cd46-869e-4f44-ada0-7db9c35257a1 CLINVAR:100356 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 30c2f575-ea3e-4980-9a0a-9dacafdd1290 CLINVAR:100356 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fad86dc-a9d7-417b-950c-7858e723a7f6 CLINVAR:284 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a836299-6e81-4d8b-85cc-830d72fd5ae2 CLINVAR:284 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 721f0c49-c972-4026-aca3-e37ba98852c0 CAID:CA383496428 biolink:genetically_associated_with MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6fc26c4-3756-4d50-ae0b-33164ac88f30 CAID:CA383496428 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fbcefdb-04fe-442d-b25b-0a8aeffa2d5f CAID:CA383495656 biolink:genetically_associated_with MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc0ae6a2-65fc-4ed2-8a58-dc63c2553ef5 CAID:CA383495656 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c19fcaa-96a1-4704-88e2-f6e7afe86e28 CLINVAR:1723280 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3770dab2-ff22-46a1-825f-ce2839b5f569 CLINVAR:1723280 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3de9ab69-0888-4966-a6ad-f4c6a396d496 CLINVAR:627354 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cfb8aa42-619a-4461-92c8-0d6e42f7f226 CLINVAR:627354 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f309e457-40ee-42e3-8449-e1a5fcc49ee9 CLINVAR:100450 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe627223-fadd-46ca-bc9e-08944ce7641d CLINVAR:100450 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3c49b32-e3c4-4b13-b149-8a399391450b CLINVAR:100309 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a4c638e1-f304-4248-b201-cb2dfd0cbc23 CLINVAR:100309 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1aa8fb8b-8f72-4459-b8bf-a2aea2066381 CLINVAR:306 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b4b3395-5ced-45d9-b481-a454b6909875 CLINVAR:306 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8afd0d7b-550e-426b-beb5-c240b97a6a15 CLINVAR:324987 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 08278374-45fb-4bfb-91da-bdb851dea978 CLINVAR:324987 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b4ecb33-cba1-4e48-87ee-6efcb08956ab CLINVAR:203572 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 487fb4ef-e0aa-49ee-96e9-177e2fc02cd2 CLINVAR:203572 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf824ce8-7031-4e2b-aeeb-dda15a066cd7 CLINVAR:889087 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12928998-9d40-4dca-8622-8a639a1cce5a CLINVAR:889087 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f36bf3d5-ac1b-4697-b97b-05e057950531 CLINVAR:1684006 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d64c5f12-beca-4598-a7e3-519dec187150 CLINVAR:1684006 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab537e28-2235-4319-9016-e772615d17bd CLINVAR:294 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8de0f903-044c-4d36-92f3-e1b0d87774e1 CLINVAR:294 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dbe206d-3186-43fb-989c-e992a93db283 CLINVAR:100421 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7af80b6a-ee80-46d2-a43c-a7acc4843cf1 CLINVAR:100421 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d557d0a-38e3-4bd0-ab4d-5c1304d1a1ee CLINVAR:100326 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ef17c6e-eebd-438a-9d6b-6b3239ad61f2 CLINVAR:100326 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf0f3a84-910d-4b70-a634-c8f6e924d924 CLINVAR:300 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d6c8ea2b-36f2-42bd-93e1-9ae011236b69 CLINVAR:300 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ef9bbff-fe27-45ea-82b9-0ce6a542154d CLINVAR:318 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da8efdd0-904b-4667-9aa3-a8a12d614dbc CLINVAR:318 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcd4455c-ba44-4755-8349-28f4d935068d CLINVAR:100313 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad0ffd72-b92f-47a7-bd3d-57bd403f29ce CLINVAR:100313 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65702cf5-4f84-4272-b7ea-3ecc8836140b CLINVAR:100308 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1a3b8a1-6a5c-4021-a743-8635aa87bbc6 CLINVAR:100308 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 118e23ac-a120-4029-be1c-377693f86db4 CLINVAR:692533 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59f2f1fb-67b5-4bfe-87e6-476b1680000e CLINVAR:692533 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d49c3c9-950a-4145-89e0-1f7a75252452 CLINVAR:9720 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2f3a34ac-c0fd-4248-9542-ab60e98a02a7 CLINVAR:9720 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 732c14c0-c0b8-4fbc-81a1-9f95e1866325 CLINVAR:9700 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f12b4b2-1688-4051-a602-c9940bf955b3 CLINVAR:9700 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ae848ce-cc1b-40fc-917a-d70b97c566e8 CAID:CA410146486 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd25f3bf-e366-494e-bd4e-cc6eaef18318 CAID:CA410146486 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a6dd098-3139-4479-bf8f-3aff530ec860 CLINVAR:463980 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen faade442-d771-453f-9cf2-42c89f5a5e88 CLINVAR:463980 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffffd8b0-42e7-4791-8f8e-0e2b8e17da4f CLINVAR:409823 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f52fd16-73eb-426d-be1c-0ff28ce6b73d CLINVAR:409823 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85c92a28-478d-4c6f-aec3-a9e05c9adb90 CLINVAR:409816 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4092fea-628d-4b69-aee6-596c5d65b320 CLINVAR:409816 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df99267e-3948-4128-af1a-7feb2a1121c8 CLINVAR:239053 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3362162-d038-4bb3-ba88-346e4cb39e9c CLINVAR:239053 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d537e2b-8ecb-4353-9977-c6c8a76ca681 CLINVAR:239041 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b812151-538d-4a0f-8b30-0514b7a81130 CLINVAR:239041 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62e008f1-e9b7-4b90-8ed8-d13ca0f22db4 CLINVAR:1439732 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc5bad33-f2c0-417d-b127-5daf95a9742f CLINVAR:1439732 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48e7df0d-70db-4a36-8d37-fc87af41a946 CLINVAR:959039 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9639cd8-a263-4ec7-8b37-45afa9c1c1b9 CLINVAR:959039 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e83face-ca93-4cc9-9238-cf7034f728aa CLINVAR:1022744 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a38bee9-fefb-43a5-8801-9ee0a40b5ec1 CLINVAR:1022744 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16399669-e9da-422b-a8bf-b9b53f1c6f64 CLINVAR:1466670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc302d8f-ea16-4c3a-822b-4fa6e5a4663a CLINVAR:1466670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f84949b-4bb6-4675-a096-a57da7e1bb80 CLINVAR:1051210 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74ace3bc-b7ab-470e-817c-660cb11c896b CLINVAR:1051210 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fe25d70-dcda-43bb-9ac4-84a2acba3caf CLINVAR:2166136 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd76a344-cba6-44de-886b-171a9da04e47 CLINVAR:2166136 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0e89003-7d10-49aa-9880-0144847dd834 CLINVAR:1338528 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 56816f0b-3ada-4939-b42e-8cc290114192 CLINVAR:1338528 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8a78823-a532-4320-b57c-4bdd953e01eb CLINVAR:3336850 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 85ab480f-ba71-4f4e-8f1e-60445e161dea CLINVAR:3336850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a256af9d-fe13-4e4b-b16b-3de6bc3925ba CLINVAR:9701 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2fedd3a-0529-47b7-80b7-0cef8356211a CLINVAR:9701 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e99877b9-854e-41f6-becf-b600e21cc4d3 CAID:CA2825000789 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad56e1c4-11c6-419a-84be-616c5e53bad4 CAID:CA2825000789 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a121023c-1152-40da-a9d5-d0c78b5ea1cc CLINVAR:18016 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7507a1e-6f2a-47a5-be7f-6cdd38480051 CLINVAR:18016 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53b53a3e-b1b5-4bba-b1a0-311eedf88ba3 CLINVAR:18003 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db0f934a-327e-41bc-8278-18f92a47096e CLINVAR:18003 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2ddc410-6b1d-491a-a2c5-128e72cb31de CLINVAR:18010 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fa7a065-2dae-4189-bb96-d56110cc7ac9 CLINVAR:18010 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9edc3a1-5b89-4a90-9f95-ca6c66b0ae84 CLINVAR:633211 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2451af12-2f30-4834-8d34-6aef15b169b2 CLINVAR:633211 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c49ce567-34eb-47ac-84f6-312da718d6c6 CLINVAR:42402 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd99cfe5-c944-40f7-b7a6-b5aca2fa903e CLINVAR:42402 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3519e0a3-3a08-4613-a921-eafa533b3f55 CLINVAR:200084 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 35f4f672-ded9-4036-91c3-4051310693b4 CLINVAR:200084 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 901c78be-f7d4-4ed5-b2fa-433fa51816d6 CLINVAR:547340 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78e82d16-9bda-4cd4-b388-89f16ce8ea20 CLINVAR:547340 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 389c3548-6541-435b-b541-21e8955618c2 CLINVAR:429425 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bce6dfd1-da71-4d4c-b8e5-bcf955c36742 CLINVAR:429425 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c577a8b7-8267-4b41-9389-6a1c7d269cd9 CLINVAR:492830 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1adefa70-fb2f-4040-bdb6-140578baafcf CLINVAR:492830 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 501a7c87-027a-49b7-b999-ad3a26588af7 CLINVAR:384344 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1063ce8-6029-42b8-b346-c2c884fef2c8 CLINVAR:384344 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 414fac26-93db-4b3d-90d7-7a7ef2e84972 CLINVAR:632813 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 33ff5beb-88a7-42cb-90ee-dc16f1957f76 CLINVAR:632813 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77023abb-8114-4f39-840d-2cfb42123a80 CLINVAR:495644 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6acac2a0-9662-4128-b0ac-75def05d582e CLINVAR:495644 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 202aa345-0a08-4aab-9c9f-363e7b269978 CLINVAR:222610 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d6aef785-1e3d-446a-b235-ad6b8c956126 CLINVAR:222610 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa2496ed-6391-4d22-9010-cdbbaf12f2b3 CLINVAR:36118 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ecf147f2-ac45-4b48-9465-a94544680202 CLINVAR:36118 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52018f8d-21d1-43f8-b534-7d9c8c9d3da9 CLINVAR:571222 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9bd27ac0-e6c3-4b24-bdcf-d1d863f9f6af CLINVAR:571222 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cbe1d09-c5d6-4cbc-ad47-bf2419320b7c CLINVAR:423498 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9382254c-b5b6-4e3d-b348-1440afe1035c CLINVAR:423498 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1870bfc-f6d4-4153-91ff-ef65227bcd45 CLINVAR:42436 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 971afa0c-8ba9-4447-ba1a-439eb3f7fdd5 CLINVAR:42436 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeea03b2-8886-409e-89bd-73c0ec67f06e CLINVAR:381609 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e055d845-edbf-493b-b32b-7aebdf7269c9 CLINVAR:381609 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dce78dad-506b-4ac3-8fc9-6f9037feb195 CLINVAR:16439 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f0f4953-f22a-49cb-9ebb-e0d1fc6e677e CLINVAR:16439 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e75a7cc-0d34-4efa-96eb-7f49202731e1 CLINVAR:42443 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f75b3d3c-3cda-44c7-b932-a55058d4336d CLINVAR:42443 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cee7191-cd94-42bf-ada7-76167f8b6c0d CLINVAR:547349 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ae5dde6-b7a0-4989-a1cd-99feec6351e8 CLINVAR:547349 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76162017-a866-4b36-8edb-b4999b4ec6a5 CLINVAR:263414 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cf155a93-ea76-4f69-bc5c-38fc15f2d641 CLINVAR:263414 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e533eac4-cfe4-4b2b-9e46-206ee52ed227 CLINVAR:547309 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eddbace3-e478-472c-b466-7e23077d4f08 CLINVAR:547309 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a448a603-e9c3-4c0d-aa99-87c863eadf16 CLINVAR:519760 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f77f3e94-445a-4cc8-b0b9-c92122c732c3 CLINVAR:519760 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 736ed455-5fbe-40fb-b4d6-f18e31af21bb CLINVAR:520496 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 957b3ac1-f609-4608-9593-8914d199f48e CLINVAR:520496 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6816c635-dd7c-4c12-a945-1cd9b1d76a8b CLINVAR:618119 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d294d08-6a72-4d26-b75f-d4036b2ee42f CLINVAR:618119 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51c6554b-684d-428f-bd9f-9baa14efa602 CLINVAR:547338 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d84f6efb-94a1-4627-a12d-6c064ff68c68 CLINVAR:547338 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6460aa5a-440d-4266-a1e6-c8403876db16 CLINVAR:1098776 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8b744657-0d21-4274-9a5f-54d1ff5345d1 CLINVAR:1098776 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a2b5bec-40d4-4b4f-ae0b-4de68cbac900 CLINVAR:495662 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ed3eaf3-19a3-4664-bb40-546c6f1b9cd4 CLINVAR:495662 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff6dc320-b2e2-4cfe-9b96-ccd6123d59a6 CLINVAR:1791142 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad4964c7-3348-4f41-b4f3-df90b840f37c CLINVAR:1791142 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fe933ed-000a-470b-9314-68f372c90418 CLINVAR:205491 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fee8f1b5-ee5a-4ba4-b8d9-9e7e97b9a3d3 CLINVAR:205491 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcb716a7-b79b-4e4b-9016-ab02f27daaa7 CLINVAR:589694 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27889865-4a79-4a30-8d5a-b539c993a7b6 CLINVAR:589694 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bda043d-0d12-42cf-831e-15bd5ec9be46 CLINVAR:205483 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b049287a-15ac-4f96-8ab8-808226170107 CLINVAR:205483 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c113a7c-348c-486d-b85a-2b2d246a6a7f CLINVAR:427212 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d03daeae-3f14-4b58-8ced-a7bfe34b6052 CLINVAR:427212 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5c5709b-12ed-46a2-a025-6abf1a232493 CLINVAR:426177 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2aff5b56-0610-471c-86d4-73e2cfed705f CLINVAR:426177 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7321da6-25a7-4917-8fcb-6579999480b0 CLINVAR:418711 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3315f812-5e2f-4635-b511-c8e2aa24d9d7 CLINVAR:418711 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b46498f-3b3f-4913-bf08-a5cbbbd22228 CLINVAR:2757098 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd17e1b9-4d02-4eb1-8dba-257e81b1ca28 CLINVAR:2757098 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4caa4049-3890-4486-bb9f-669e68ccccd9 CLINVAR:2839411 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2a5c1dd-36cd-49de-86ba-4f944f0ed348 CLINVAR:2839411 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ac2c8ac-f749-488b-a668-00b96b9853ee CLINVAR:2701885 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05980b67-61b2-4a95-a227-ca9f963e524c CLINVAR:2701885 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 577f08c3-9626-4c12-ada9-b4ea3ea992e5 CLINVAR:2029556 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 932a281d-5d2d-4c01-bb9e-ce5b67c45f3d CLINVAR:2029556 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 442e4ed5-c688-4692-ae87-c7c92a53094a CLINVAR:2911507 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 519c3693-f9db-40c9-b7dc-f742e0e4bba6 CLINVAR:2911507 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93d7fe66-63a0-496d-bfc8-5cb26207240d CAID:CA410148059 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6292b450-04ec-4301-b431-94fab3dae5b9 CAID:CA410148059 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b6248ea-bd9e-416f-8b36-2b8b8404b43b CLINVAR:1211932 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f65a7c40-a58f-461f-9b2d-221ca20cb2b0 CLINVAR:1211932 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5018ca83-0767-4053-a750-8b780a377c10 CLINVAR:2840535 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ebe37eb-6765-4b3c-85bb-04000d345723 CLINVAR:2840535 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cabb0e8-2a1f-4584-9467-3541a121a748 CLINVAR:2808406 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17ca57f9-d64b-4f91-87fb-41fb24897b92 CLINVAR:2808406 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f5e8871-e71d-4910-8abc-25a35c21c6ce CLINVAR:2857333 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ddd01d8c-9ba2-461c-ae84-7977b98b895e CLINVAR:2857333 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22fc226c-874d-4738-ace0-caa98cbabbf1 CLINVAR:2857331 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd09d6c1-a9ab-4430-a37b-a1589d9bd5a0 CLINVAR:2857331 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen accd5584-8fc4-487e-823e-9ff7977fbde2 CLINVAR:2746077 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c5ed001-dd1e-4b4f-adf0-0f1615878eb2 CLINVAR:2746077 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e07f1937-299f-46db-ac40-e6f2997dbca7 CLINVAR:2808511 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 039c5e05-1d2c-4fdb-b2b5-f65a5b51f150 CLINVAR:2808511 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47e406e6-fed6-40a7-8751-f3dfbe30aa76 CLINVAR:931873 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bde3be8c-f3b5-4eda-92cc-c6e1b73d0d8e CLINVAR:931873 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb1aa0ba-1364-4155-82b0-66935e2dd106 CLINVAR:435438 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e37d233b-7a6e-431a-9b63-db10164ba683 CLINVAR:435438 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 465f2c9c-2358-42cb-be5c-1bbed92bd5a6 CLINVAR:447522 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa1a8fa0-754d-4883-bcd4-ffc279b9253c CLINVAR:447522 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdb5a9ec-b708-40ad-979a-9d3e4ef33a70 CLINVAR:9210 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 337286d9-44be-443c-bdf7-8d0b73ff270d CLINVAR:9210 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2211df07-38e1-4469-b15b-57413a5f917d CLINVAR:437910 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c040248-23f3-46e8-b27d-757df2c2a499 CLINVAR:437910 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 160430a9-8362-425e-b952-dedb2ab6aa77 CAID:CA2695217482 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 408bdd60-4a8f-4bce-a080-c4d202da4344 CAID:CA2695217482 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 796e53c6-504c-4745-9bb0-f30e99962b76 CAID:CA2695216034 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 131a7526-09a7-43bf-84ba-4b013c54757d CAID:CA2695216034 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bb18d26-3c26-4ece-9e3b-6a1971577fad CLINVAR:100231 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef29c1f5-579f-48b4-a2a3-618104d73a3e CLINVAR:100231 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25a914ef-beaa-4a79-abfc-68f3b50fc7ec CLINVAR:515407 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbf3d0e5-e3c4-431b-9591-5ae01eaf24be CLINVAR:515407 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0543b56-dc20-4d0e-9b1c-c52e36cca365 CLINVAR:507529 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 882f8de8-28c8-4549-8b3a-8f0b0950dea1 CLINVAR:507529 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dd672a5-2254-4c5a-ba06-8ad5c8d78a10 CLINVAR:510672 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5adad039-a91e-4af4-a000-7e5e48fe10f7 CLINVAR:510672 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a844ed45-c042-4015-a850-0a4f7665d439 CLINVAR:193975 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1757b3cd-b40f-41e3-b40c-368269c7cdd3 CLINVAR:193975 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 612ecd29-ee8e-4a9f-8e1a-fec85b1affc4 CLINVAR:864108 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da5140e3-e86a-4fb1-9a9c-e032c5ff1ab0 CLINVAR:864108 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cd92683-e19d-4ddb-91af-f62e3bb42aaa CLINVAR:642648 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e96a23c-10b1-47c0-affd-76e6b887d402 CLINVAR:642648 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e7c42e6-d2cf-46f1-8eed-51aef18df536 CLINVAR:182963 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 700589d9-3347-4248-b297-a0b3b69b8ff0 CLINVAR:182963 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cb5fa89-d2f6-4bc6-80f3-1b71d0f2365e CLINVAR:12374 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e0f8272-2c6f-4502-882a-0efb4056044d CLINVAR:12374 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 494bfdae-5ef2-419f-9cc4-e95e9f1b05b4 CLINVAR:376649 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9fe3a9d2-747d-4943-ba5c-cd2cd41861d2 CLINVAR:376649 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 273e40bf-ab21-47db-854f-a767838ec037 CLINVAR:215996 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2505ee0-f451-4b17-9b4d-2328f0d09e6f CLINVAR:215996 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3245ee1-9d8d-479e-bd19-ddebd1a0748c CLINVAR:12371 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19f99cd5-620a-431b-9820-139ae73edb97 CLINVAR:12371 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 933d699c-aec4-4244-949f-d7f56e9f2307 CLINVAR:102645 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d76c0af8-d679-40ea-8dcc-a5067784b541 CLINVAR:102645 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 539a787c-bda5-46a3-9ab0-682aeb55f232 CLINVAR:102728 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 62071a35-0898-4235-b724-37a0b549e462 CLINVAR:102728 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2efbcfe-826b-4188-a21f-c116330ae357 CLINVAR:102575 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 807bfea6-aa95-46bc-90f5-4a9555657724 CLINVAR:102575 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc3961a9-b0be-453e-a074-14d7c70d0dc0 CLINVAR:102895 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c228baa-8b84-49c0-be80-427f96d77785 CLINVAR:102895 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9159c950-6ebe-4081-9e0d-70f746b97c78 CAID:CA16020839 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a5df841-0ab5-4f6c-a272-4c8e518b9b65 CAID:CA16020839 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcfac718-8cde-429e-b077-55a50f0a2665 CAID:CA16020814 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ce2736e-0242-4b2a-a22d-358f9d87a039 CAID:CA16020814 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba970d82-1eb1-4844-8cdd-e7836cd4af96 CAID:CA16020783 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17583870-e0bb-4c68-abe1-35226eda4198 CAID:CA16020783 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 058253cf-b370-4159-84cc-d207eca8d069 CLINVAR:252114 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86f756e6-39f5-4de0-bdf6-7eabf6c3d196 CLINVAR:252114 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2f13dc2-7476-4d80-8ba7-9c8c61ae2669 CAID:CA1139655403 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c886f0e-ddfe-48a4-9a2e-37e920574ac2 CAID:CA1139655403 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f99b0a5-8c32-4b4d-9cb2-d2a146251717 CAID:CA386965322 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5cd1c31c-03fd-4b05-bb49-54c6a021e82e CAID:CA386965322 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7db3d09-fde6-4942-87fd-5f1d298380f9 CAID:CA386958847 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e002a4ab-b236-4436-91f4-394d704df141 CAID:CA386958847 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82ccdb44-7bca-4c75-a831-ff5722171c25 CAID:CA2837589098 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72990ee8-784e-4b7d-ae26-234c5789cd15 CAID:CA2837589098 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceae843a-9931-4910-8ac4-bb20a8f8d951 CLINVAR:972751 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a0a14f9a-2d17-417a-93ca-723b23fbe675 CLINVAR:972751 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a585abaa-5a9f-4bbf-8d08-219900edde92 CLINVAR:2746579 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7f0e3cfc-1cac-426c-a4f3-a8c62b58c081 CLINVAR:2746579 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c9ecdab-a99a-423e-87dd-cb9019fe576f CLINVAR:1398400 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 805dfd2c-6db3-4f96-bde9-74509d2e9a5a CLINVAR:1398400 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47511a4a-21be-440b-a073-bd8fcaf0dad7 CAID:CA409106119 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54567102-5169-453e-8297-4ae32e229f72 CAID:CA409106119 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2092410a-ab34-4f33-82a7-664576d087c9 CLINVAR:586009 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a86233be-37a9-4cb8-ab13-620667e7c138 CLINVAR:586009 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f927a38b-bc91-4b29-96f2-25fbf84c55f5 CLINVAR:977222 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bed3678c-812d-440a-9e8f-c5f7ea715626 CLINVAR:977222 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a36c4ff-87de-431c-ad19-4adb2b663b47 CAID:CA1139655404 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5ee001f-d9eb-4ecf-9ddd-6acbb04aa9b6 CAID:CA1139655404 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f79faad6-2856-4d65-91ce-2f6bb1bb81ac CLINVAR:425733 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10277957-c88d-4cda-9036-3a34ee9aa249 CLINVAR:425733 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a34f858-a0b6-414a-b750-b200a018ff02 CLINVAR:425842 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f83f3a84-57fb-4049-9cfb-dc50123d1eb8 CLINVAR:425842 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c6545b7-dea5-44c0-8231-a6a4bd924ada CLINVAR:425844 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7e7855b-f708-454b-9fb3-21bf084932fc CLINVAR:425844 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ffc0151-7363-41f5-b0ab-c4b86388ccba CLINVAR:2854758 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87b8f0b8-6cd7-4e5c-ba9f-8dac563d9991 CLINVAR:2854758 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e47de08-1c59-48c5-9994-e32a1a07b59e CLINVAR:2635335 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00ffeb14-e92b-4150-b3c2-82500531fbeb CLINVAR:2635335 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d170b95e-db99-435e-885c-510f41337cda CLINVAR:2820865 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7bab9f1a-d566-45c8-a94d-3fbd4ad49fe9 CLINVAR:2820865 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fe3f5cf-bdee-4693-8f5f-96c14715b99f CLINVAR:2759299 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 702327b3-efb0-43ec-b676-532259dab1c0 CLINVAR:2759299 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c5d4aae-7154-489d-822f-116376908d8d CLINVAR:2705087 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 70509717-c1bb-4009-9a73-a2a224934685 CLINVAR:2705087 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 963ecc5a-5516-4700-851f-1bf76dafd13f CLINVAR:2101398 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6676d3c4-4139-4b2d-b6ee-27898313cccd CLINVAR:2101398 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1776f983-3860-4fc8-a733-efb3da68b82f CLINVAR:2106464 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d2575a29-e286-4c35-9b7d-35bec2683cae CLINVAR:2106464 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2789d5c2-bf3f-4c7f-a87b-3df35fb3a2f3 CLINVAR:2579542 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f38b21d-619d-443f-91a3-1a7a10f4cd19 CLINVAR:2579542 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5e0a5a1-bb5d-4e33-a715-94d31a489a6f CLINVAR:2028205 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a787d64-7c2d-40d1-ad3a-4dfcf106b4e2 CLINVAR:2028205 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b894f8dd-500f-4748-b952-8ebcc1e67c17 CLINVAR:2008798 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed81572e-4514-4116-a2e6-f15f7efa5fdd CLINVAR:2008798 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be6ea745-95a7-44af-a836-18726e7471eb CLINVAR:1684398 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac0ccd3e-b7a8-4a18-b4db-4c6d91e48264 CLINVAR:1684398 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9eab202c-8500-435b-b4a1-d714e0b55dfb CLINVAR:1460663 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 43ebde44-386b-4ee1-b5c7-40278181a475 CLINVAR:1460663 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef41c401-99e9-49ce-9fa9-a9b10700d9a2 CLINVAR:1338564 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 233d8e7e-6c1b-4b6d-a80a-ceb1d99047b7 CLINVAR:1338564 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77a92038-61ec-4db0-8f6f-0edd68533b57 CLINVAR:1041897 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a3196c9e-e29b-4b4c-9841-ad446e7afbfa CLINVAR:1041897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5d8fc87-c23f-48a4-a399-90a9f32ddb87 CLINVAR:1045299 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 27be86e5-9265-4b51-9ef2-ca38a5ae8551 CLINVAR:1045299 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba8aadf8-efdc-4908-bf83-f7e0bf25e0cd CAID:CA410207977 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 89530b89-1346-4d05-aba9-dbef8458c033 CAID:CA410207977 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c225f92a-d8b8-42d1-94ed-0bb268164770 CLINVAR:2092471 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3598bc1d-aeac-488e-a927-4e54acee8847 CLINVAR:2092471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8221313-525f-4b43-bae1-648385931721 CLINVAR:252115 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3c095c5-d154-4c10-8631-810d631f6aec CLINVAR:252115 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c372c25-6f50-4f44-b333-bb8b01d2f37e CLINVAR:205591 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6ba99b84-0af3-41fe-84c7-6fea4c725e1d CLINVAR:205591 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ec55b73-4149-4ba6-bbcc-4984f5a73571 CLINVAR:2137773 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e538ff0-bc2d-4092-9f65-53054d5ef152 CLINVAR:2137773 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b6ea909-1df7-4e82-9258-29a84027cf5f CLINVAR:205582 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25d9a024-62e5-49f9-b55b-216efcec0b73 CLINVAR:205582 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3001484-9c4a-4d06-9eb1-41a26eb39e98 CLINVAR:2815164 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81e67ea8-8b47-4245-88c1-6168fecfbd22 CLINVAR:2815164 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a97f906-1924-4439-899a-6539546b19cc CLINVAR:1142221 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3e5e09e-1d9f-4d2e-ba64-f663304758a3 CLINVAR:1142221 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20e0f51d-31c4-49ab-8bba-e77ef60badf0 CLINVAR:2042433 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06731bb6-bfd6-4d39-931d-1aa83573e5f7 CLINVAR:2042433 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dbc9f37-cc86-46a5-8f19-9232f294583e CLINVAR:1473511 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2130971-dcda-4ecc-8a60-2bd62d2cbcc8 CLINVAR:1473511 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 803f2f0d-1f37-4c44-b06e-dd902a1e537f CLINVAR:1349433 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b3b06c2-cda5-42ba-b251-94f1c3bfd1be CLINVAR:1349433 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 613cac90-3466-4b20-bbad-b548a90c5d2c CLINVAR:2769013 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24b961f5-6a5e-4dee-984d-df2203b072cf CLINVAR:2769013 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ea3c42e-7c0b-40ea-bc1a-a94f7bfd6d80 CLINVAR:1967828 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98a10b62-ec56-4a14-b0bb-ad48846f1deb CLINVAR:1967828 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a803285-78bc-4e4c-b454-6e1f22e7b2db CLINVAR:2958710 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1916494-f4ab-46c5-b0a4-e99475c26e21 CLINVAR:2958710 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11c547b3-8eef-43e7-a1e7-dd66a9754dc5 CLINVAR:2912699 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44ec0956-7471-431b-b45c-d14b9d0965c0 CLINVAR:2912699 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a33f9e96-6a8c-4d8d-adee-4112f7d88e7e CLINVAR:2825312 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7ccc586-182c-4076-ba3b-03a352e10fd9 CLINVAR:2825312 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f1611f3-5c90-42a9-b446-536d934a42f8 CLINVAR:2763182 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 994ceda1-0114-443c-947d-5dc7c15fd874 CLINVAR:2763182 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c260a4e5-dfec-457e-865b-1b7f0a8d3135 CLINVAR:2807004 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95a45459-9a9b-4479-b563-49c00e551b28 CLINVAR:2807004 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2d466b6-4d5b-4f48-ac34-ec23741c28df CLINVAR:2737781 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 852c85ef-4e85-4448-a464-d2b383768fe6 CLINVAR:2737781 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28f25d63-ccf9-4d92-bc4d-7e7fce55bf86 CLINVAR:2737296 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e8a68d6-c135-4027-92c4-55397cfb09e2 CLINVAR:2737296 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bd16cc5-1ff3-4954-8c9c-b9a3f416477f CLINVAR:2917126 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dfd2ccd2-7a0a-42f1-8f62-52ef021b8d51 CLINVAR:2917126 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0baddcf3-9fa6-4595-ac71-0669f69eb1d8 CLINVAR:855888 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 023e2c80-65b1-4734-9bac-8f5fe9315f81 CLINVAR:855888 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 922dd622-f277-426d-bb41-98d48039549e CLINVAR:2695627 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d0f2e59-a5b7-4dc6-b242-73e4799a4973 CLINVAR:2695627 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dad70263-a5f5-4a52-b25f-60401665c2b3 CLINVAR:1002574 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa17dff3-3392-4d0f-9ad4-902d92feb6f5 CLINVAR:1002574 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db8b69ff-797f-45cf-8932-a83e8c69eee6 CLINVAR:1487422 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ab80bd0-2607-494e-ab63-f8402d762fca CLINVAR:1487422 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d771b88-2656-4135-ae4d-c0e19b4a9308 CLINVAR:1006857 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4dcc90ac-1813-49d0-90d2-9f6661317b6f CLINVAR:1006857 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a46576d-5442-472d-835c-40e5ca194dbc CLINVAR:2725991 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen febd21ed-6a76-42f7-b22c-49077b7e369d CLINVAR:2725991 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22c5d229-8c9f-4bdc-84b9-10dd9da12381 CLINVAR:2916977 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6eb97c2-de09-49fd-8b2a-299514ffcd6f CLINVAR:2916977 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8debf12e-fcf0-4b73-a2b5-964b7321de24 CLINVAR:2823780 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ff76845-1ad2-4762-9b49-bb70f4aab636 CLINVAR:2823780 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cb47771-0756-4e74-8d3c-4ec2950d3a6d CLINVAR:1363734 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17a4644a-3b8d-4c14-8f18-bd90a3f337e0 CLINVAR:1363734 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c16fb763-eeb8-43a9-b7c5-1779f8b8a007 CLINVAR:3009082 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8fd5ab3-4593-412a-bbc8-1110bdbab64b CLINVAR:3009082 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c12e5d1-9736-4c1c-b24e-666f1ebff861 CLINVAR:1507948 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ee43ccf-cadd-4cf4-aa17-6c73225fa9a4 CLINVAR:1507948 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c3bb9de-e96c-4afb-8fa4-297ba1028426 CLINVAR:2734274 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ebc50946-8091-419d-b62b-9bbf0f5a6188 CLINVAR:2734274 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1154d85-8065-43ca-9f87-e4bd867a0a12 CLINVAR:1470171 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed88d72b-1102-4199-b44d-0ecdbfd13cc4 CLINVAR:1470171 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bdf3873-8d12-4df6-99f9-35b8e2e23f50 CLINVAR:2718142 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af5057dc-4c6b-49e1-979f-d3d5c4da7fa3 CLINVAR:2718142 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e843a0e-6b18-42aa-9b67-f9cb8b2a0c74 CLINVAR:2630595 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24f973cb-3a4f-4131-88b9-b0ac48cf0d62 CLINVAR:2630595 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bee76e9-57db-418a-aab1-3e4e8fa4d959 CLINVAR:2972103 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 48580e55-3b01-43ef-b212-dfb2facd4be2 CLINVAR:2972103 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7afbb072-8d6a-4424-abea-4069a2adea8e CLINVAR:1400931 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee767385-f6d3-4784-8b85-42b46ee2ebac CLINVAR:1400931 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8aa39fad-794e-4ea6-9de3-ce8068581da0 CLINVAR:2850045 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9dbcd6b-3e19-4315-9a28-744897dba874 CLINVAR:2850045 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eccb4bca-188a-4765-8ed8-b7ee90d4b28d CLINVAR:2716140 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8242a1f-fadf-480c-848a-459498a2d86c CLINVAR:2716140 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40ed349d-9442-4d61-8962-0938695a109c CAID:CA2830665544 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b2a1962-f2a8-4b40-9052-285a7da66c33 CAID:CA2830665544 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f815bf2-6cc6-4e55-b6c5-e320af3b4bdb CLINVAR:1463552 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5335caa0-32e4-45cc-8d15-c312a63eb552 CLINVAR:1463552 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 206ea99f-55c6-4d60-9809-6a11e205327f CLINVAR:252173 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4b76c9c5-18f8-4fbf-8a1d-8f378e7c27f7 CLINVAR:252173 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72740bef-92c5-46ea-a35c-e0a45b7006c0 CLINVAR:3712 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f2b19182-6303-4f20-98c5-a22320057c47 CLINVAR:3712 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbe66dd2-f123-4ff5-9f9b-e3d160b29aed CLINVAR:2637205 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5425576e-6ba0-42aa-af2a-0a1e3b97a21d CLINVAR:2637205 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ffcec8e-29dd-4466-bcf8-f5a3916a590c CLINVAR:2730931 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 975d99dd-8d6d-4266-9fdd-d6e6d4e66f79 CLINVAR:2730931 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f564832-5d8d-4112-aaef-8b37edcc3b3e CLINVAR:2764958 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d54e7a05-cef9-4554-945f-520e2e024485 CLINVAR:2764958 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8044f9cc-9d3a-488c-98f8-cc55fd6e62ef CLINVAR:580765 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 738822fe-8bfd-45b5-a750-940141fb2083 CLINVAR:580765 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 782fb4ba-1a27-4b9c-96bc-4fcf328bc506 CLINVAR:1057975 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39f9419d-3c53-42ad-b57b-057f4b90728f CLINVAR:1057975 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfac87e9-c155-4994-9909-28897721730a CLINVAR:1438740 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0907dbe-ed78-4760-b9bb-f547a0542397 CLINVAR:1438740 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d9a0799-ef32-4620-9bdd-0ca604aa2747 CLINVAR:812738 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10de2bca-9121-437c-92c6-30b12eafd95d CLINVAR:812738 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3808a57f-8617-4041-aafb-6e7d99bfc4e0 CLINVAR:942577 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83b84dcf-cc98-4431-8612-fe35c9d4a9d6 CLINVAR:942577 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59ca7c76-8920-415a-a8ba-261bf4c0e90c CLINVAR:1437357 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d496051-850c-47ee-a925-e88441a3b788 CLINVAR:1437357 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7af01b19-c080-40e5-b799-ded0a1791b50 CLINVAR:463999 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f748495-3bed-477d-ac5e-3c124fdef6d5 CLINVAR:463999 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7be49887-3701-4088-b775-f0fd10e7814e CLINVAR:463977 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d4944ca-3e9a-4fe6-a9c4-b0b818aa4d5e CLINVAR:463977 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b5341fe-d05b-4e88-98da-4c136655dd78 CLINVAR:3340471 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af686420-4b8c-4255-bbbb-ec45010580db CLINVAR:3340471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5faf7478-44f8-41bd-b592-f338edfaa9df CLINVAR:2846862 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d2b4717-5716-4d41-9d3a-7e85f2a7fea3 CLINVAR:2846862 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39bf6714-3aa3-49bd-acd4-4c5895de3f07 CLINVAR:2719217 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34ddd40d-4cf7-46c8-897c-842c316343c6 CLINVAR:2719217 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35e264b8-472d-4e0d-b517-eff53fb714d9 CLINVAR:897094 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 260a00a4-b664-4741-8bef-f8dc8c5e8dc7 CLINVAR:897094 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d7e1fe7-369a-4c03-b1bc-c90879410f5e CLINVAR:2743644 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d9bd18e-a55a-4b6a-9bab-7aff627b50fd CLINVAR:2743644 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc381683-9e83-4426-b33f-cc1a47875c87 CLINVAR:2789785 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89b5a077-5013-4bfe-9056-b76f6d4674db CLINVAR:2789785 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66b1fea5-ebc9-4490-af56-82f6168f1904 CLINVAR:1014373 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f44090e8-8b11-4237-b2cd-ebac1c328669 CLINVAR:1014373 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen add9b4dd-6abe-4b91-ae99-cf2d67c7b4e3 CLINVAR:339798 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a48621c1-55b6-4792-9aa7-d999d40c3f17 CLINVAR:339798 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e92e481-7948-4b87-b469-fd35109be1f2 CLINVAR:2678494 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2825753-5c9f-475e-823b-b7bb74a2db28 CLINVAR:2678494 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e35abdc-96dd-4846-94da-2c3f312148af CLINVAR:2993180 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05d06155-7fc3-4a1f-97e3-8508fe7c4ae2 CLINVAR:2993180 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29453709-6f9c-46d9-830a-e6323c3edb0d CLINVAR:339819 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34f6bcb4-5230-437a-9fe0-af2f93bcea9f CLINVAR:339819 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c164321-ad89-45c9-bea8-d3e8c1e41c9f CLINVAR:2769330 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c9454ce-6e92-4e16-914a-6060b767ea31 CLINVAR:2769330 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3550feb4-4821-46cb-989c-0825c77a4880 CLINVAR:2805900 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2770ba04-e332-4ad3-b091-1d9cd3b7e879 CLINVAR:2805900 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e75863ee-64d3-4a96-aa47-ece4ac5ea2f2 CLINVAR:2696801 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c669bf45-028e-479a-a818-62f32faede4f CLINVAR:2696801 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7f9b6eb-2ee3-4441-9d68-4faa205ce91e CLINVAR:2826469 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 391b40f3-450a-413e-9048-f33354f3069c CLINVAR:2826469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c24cda27-bcfe-4d96-b40f-f733a1849109 CLINVAR:2839110 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7a97569-7120-4064-b629-981d6ecd7697 CLINVAR:2839110 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92b63c85-7131-4a3a-a719-4a7fe6e22e21 CLINVAR:2791325 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76235edb-00ce-47ad-97a7-f007e0699389 CLINVAR:2791325 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af0386ac-78fb-4e9e-8a09-551a689c2500 CLINVAR:3017323 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39d74e6b-5c6a-4dd7-995c-b801ad072b06 CLINVAR:3017323 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55041d3e-efe9-40cf-8c2b-c1befcbe2b97 CLINVAR:2814028 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f94fb71-21ec-4f38-a9a0-0593352c2c0c CLINVAR:2814028 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 067b1f50-0543-45b5-a5b0-d89c6fea08a1 CLINVAR:2852638 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5804969e-75e0-4dab-85c4-a15b3e34539b CLINVAR:2852638 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03b23393-212c-4458-9aa2-412c93e9d8fc CLINVAR:2699552 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e282afa7-c515-4577-9a8b-7c4acd64deff CLINVAR:2699552 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2edd1244-6082-455f-8458-b7b351cfee6a CLINVAR:2662455 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65c080d4-91aa-4f48-bd53-76bdaab39ce3 CLINVAR:2662455 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baab7012-c0b3-4e41-95fc-d30c4050a411 CLINVAR:1362194 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 139e8ade-d35d-40ed-83b6-2ac42a24e3b8 CLINVAR:1362194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52506eed-7eec-4513-8ecb-d0677b174a63 CLINVAR:2021813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc7f08a6-e41c-478f-8f84-7d109ce95edd CLINVAR:2021813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f64743a1-0785-4af3-b21a-473026d21bed CLINVAR:1388634 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 337b46a0-f0a3-407c-b7e8-d18ebd6a4a8f CLINVAR:1388634 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 012d2a2a-b239-4080-870f-9ac8ee223310 CAID:CA2830665545 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen caf66ff1-db43-4674-8a5e-5e3122856214 CAID:CA2830665545 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70a017bd-8c9c-44da-b88e-92dbd4d89503 CLINVAR:3241647 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 671eded9-7132-46d0-8995-d873c5fcf3be CLINVAR:3241647 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57c05179-411d-4ba7-9b99-d66532ae7e47 CLINVAR:180142 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7573edc8-3a1c-43dc-b39d-c8cdb893e916 CLINVAR:180142 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2b458bf-bf48-4671-bb48-6801b315dc26 CAID:CA409104130 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2fc4be3c-6414-42e2-bcde-acde574499d4 CAID:CA409104130 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4cfe34b-9e4b-48e6-a986-a1e62cf4ca82 CLINVAR:586023 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75fae4ec-d71f-4f4e-ad46-28415bf78172 CLINVAR:586023 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebfef85d-85b6-4627-8900-be59ddc4b272 CLINVAR:660789 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c78eb532-4bcf-4ed8-b17f-5d73a2a70219 CLINVAR:660789 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21988d8e-1438-48cc-a483-40e59501fc5b CAID:CA1139655402 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 429e928b-bcfe-407f-be19-ed274327d47c CAID:CA1139655402 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae131f5d-ad71-4fe5-baf9-da47804cd710 CLINVAR:950322 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e09f5af-6b02-4a57-b5fd-fcc80b037682 CLINVAR:950322 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b458175-e1e6-4cf4-a289-b92780193c3c CLINVAR:639328 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7cd08110-f7d4-4d8a-8f80-8a80fb1e2f73 CLINVAR:639328 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e90daa93-c7a0-48b1-9fce-92d0ea9aa1e5 CLINVAR:1315930 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 31a7ba95-1979-4487-a908-77a1edb73a7a CLINVAR:1315930 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dda5e27-939d-4c12-b6a0-9e782f46bdb1 CLINVAR:1973721 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08166e57-76d5-4a8f-ac88-c8c2d5f2201b CLINVAR:1973721 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75a93edb-e66f-4721-b495-f7788d608291 CLINVAR:1684386 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df40443a-54e6-49fd-82a9-e67299792bef CLINVAR:1684386 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22b09990-de60-40af-813f-5e4f5efcd433 CLINVAR:1064169 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7d06326-a056-419a-92e9-a54afb50df6d CLINVAR:1064169 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ccbaad9-6c1e-4b08-9c32-396e49e6c58a CLINVAR:854013 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e77ef830-be8e-41a3-8484-493d78242a57 CLINVAR:854013 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8dfcfe5-ddff-473d-9c10-7c3961ca7f49 CLINVAR:859484 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3eab8d12-279c-485f-81f2-aaa679bd734a CLINVAR:859484 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0d1259c-f963-42e3-85eb-eade57ebe33a CLINVAR:2718511 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72238e4f-59ea-4c84-ada9-264700cbc3eb CLINVAR:2718511 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abd15fe8-9e1a-450c-b063-c4ca2e057117 CLINVAR:1506422 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e8f30ca-87d4-4a1b-8e73-0e8485e9746a CLINVAR:1506422 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7813c865-b7f2-4ab8-b176-86174537b043 CLINVAR:643883 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b26f8b0-fbb7-4678-86e1-11dbb00cb69a CLINVAR:643883 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09076b77-9cb3-45a9-af80-8eecf38da450 CLINVAR:1485668 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cbce80b4-2d8d-44fe-8f4f-33d492363546 CLINVAR:1485668 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79438d33-7905-4d76-bbf9-8b26c9881ed1 CLINVAR:949250 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51ca0305-c963-405b-8357-aaa59b9fb09b CLINVAR:949250 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ecb1886-b594-4656-b717-c87d5af82e34 CLINVAR:1065582 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0fb4423a-fe81-45c1-8eb5-af8677e66fcf CLINVAR:1065582 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c89f6e75-3c3c-406f-ba94-176a82900495 CLINVAR:2435494 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b90e5ca7-9809-43a7-b3ce-913e06d2e535 CLINVAR:2435494 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17eaff12-336b-4ecf-8343-28ecf59afcf6 CLINVAR:339800 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99c5e0ac-6e5a-4b2f-b7a6-d766e848cb2f CLINVAR:339800 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 623a953c-8391-4aa5-96ef-92b9484b7cce CLINVAR:576865 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b58a4e4a-2166-41d7-adea-3a8136b4e154 CLINVAR:576865 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7952286d-1615-4d38-bbab-4962a950bcd7 CLINVAR:971769 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d5bc71f-0ebc-4e2c-b9ca-2a7706278eca CLINVAR:971769 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56b9917b-05d0-4e64-82a5-024cbab4941c CLINVAR:840423 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c870c2a-a72f-4cb1-8a59-f8ab601f75fa CLINVAR:840423 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c59a10a-a1e0-4239-9d74-45ce43a53aab CLINVAR:1009408 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ed4c5d9-4892-4b7d-9d31-11827bdd1ff0 CLINVAR:1009408 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84dc38b5-6072-4bff-8e65-d715ea7287f1 CLINVAR:995686 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen daa8f935-ae7e-4678-822b-ada2aca48bd6 CLINVAR:995686 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08e3fd73-b183-40ad-9219-a9c26cbb0530 CLINVAR:213212 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a6667fb-8582-4880-ad4f-978147051e96 CLINVAR:213212 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3723535a-8fde-4b2d-aca7-5d1c065531e8 CLINVAR:587965 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 197d92cf-6676-43d0-92d4-1679effefab9 CLINVAR:587965 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33ef0acd-0a2f-43b1-b64a-f59fb823badb CLINVAR:425876 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d79d5d16-d99d-4a73-ad91-fe3fb902c82e CLINVAR:425876 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen becdb146-dcc0-4972-9a06-b33b0eeeda03 CLINVAR:425702 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a4a34d64-55fd-47b0-a879-90e42dbc2375 CLINVAR:425702 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a335c485-e631-47d7-a1e1-b64430131976 CLINVAR:425864 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 27320bb3-d513-4937-aa9b-d8fb19cd64fc CLINVAR:425864 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c15d222-240f-4c3e-a8d5-ed8edc687c42 CLINVAR:389672 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df980a9f-b17f-4549-acda-f70fb1703c91 CLINVAR:389672 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f56d86d2-2e51-4095-8662-0380214da44a CLINVAR:1940407 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fea28dac-122c-4bfb-9bb4-4800dcf0a6fc CLINVAR:1940407 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90d88242-6ec6-4186-ab18-d6db4d875db9 CAID:CA386959765 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ebe6ae0b-6c34-4d72-9d76-629825b0bf2a CAID:CA386959765 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f94acd2-c05f-4d9e-b4bd-0adc765d7c81 CLINVAR:1338462 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d5a1d9b5-bedf-4b89-a072-acf4c2477dee CLINVAR:1338462 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d8b243d-62dc-4327-9279-0d9e6290d2b4 CLINVAR:252096 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d200a74-5007-42c6-bf41-e5faedae3a1f CLINVAR:252096 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93f75532-c954-48eb-bff4-ce497f6615a9 CLINVAR:161284 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7eeb0805-07c3-4b79-ba7d-9112db9dc4d0 CLINVAR:161284 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d21cf4a-2eb0-46e0-8aab-5f2a8c6e542d CLINVAR:251845 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fdfadb20-6a3f-4148-b0a8-531582601054 CLINVAR:251845 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3881840a-d4a9-441c-87c0-a7b10da473b9 CLINVAR:251844 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cafadb23-263d-4d03-a451-bbfbe37123e8 CLINVAR:251844 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cdd6b3f-4931-4fa2-8615-36b84f7ad030 CLINVAR:251846 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 26ed3208-0495-461e-8359-8613f4a8f3ab CLINVAR:251846 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0ab7c35-a4e7-42ef-80f0-cb37c7343126 CLINVAR:189297 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17c0b79e-66e2-4ba8-ae35-1b5a6539dbd1 CLINVAR:189297 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7323951e-281b-43cb-af18-c4c83aedab00 CLINVAR:438325 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b9901c41-ad80-4161-b2c2-27f741660c29 CLINVAR:438325 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87edafff-e188-418d-96e3-9a3659b38d4a CLINVAR:375822 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2210978-68a4-4cb4-a013-35ee93927046 CLINVAR:375822 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59ab6c41-db70-4cf1-9589-ca856238146d CLINVAR:921461 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 328af9bd-087d-45ae-9521-d7f338f5189e CLINVAR:921461 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faa54dfd-316d-4c9c-ba80-9ecf9d9db2c5 CLINVAR:251881 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d3c5321-556d-4c27-a59a-af605790c18b CLINVAR:251881 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26dada0c-07d2-4e19-b218-d2390f8708a3 CLINVAR:926176 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c3afdcd-4361-4a5f-aa13-198dd1e3038e CLINVAR:926176 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3c920e0-9b69-41fd-b621-4198f655600d CLINVAR:251249 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24433e6b-ead0-415c-bcbe-3ff6b0295f1d CLINVAR:251249 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a7fab9b-efbb-42fd-8f11-51ee0f55f5b8 CLINVAR:251252 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab8dbc07-379c-4995-bf18-646fc5a1eaf6 CLINVAR:251252 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18ab4dce-7822-4432-82d0-11386f1e4367 CLINVAR:183089 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4450c49f-41d8-474b-a776-814f5e1ea2cb CLINVAR:183089 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb52d564-f6aa-4987-9d2b-e6c32e348d16 CLINVAR:209088 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d62a9a8b-7cfd-4c3b-9c69-e6a499df2bcf CLINVAR:209088 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb73efe0-8453-4f1a-8fb9-8d6eb924297c CLINVAR:289969 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d3b545e-fe7f-48c0-aa64-c5538b4ad29a CLINVAR:289969 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9466431-4a30-4fd5-8638-ae9ccad51f52 CLINVAR:373089 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b19f71fa-8031-4e47-8cc5-e7a330a63438 CLINVAR:373089 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85c7af32-b834-41a2-b1b5-629c1b80b25e CLINVAR:9447 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eda17e89-c50c-4520-8677-48377b4ee696 CLINVAR:9447 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1860c0b-7465-43b4-b7c7-38001c8425eb CLINVAR:626912 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c6678fe1-f289-4565-9f83-6f084042904b CLINVAR:626912 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ef1e7b3-b239-45d7-aca5-987ccf288fc8 CLINVAR:222971 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 205786b6-b2db-4ec2-a3e0-b1a41b7d8df4 CLINVAR:222971 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e17b2c8-8f36-402e-b7f3-eabcee4e3f58 CLINVAR:13902 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36d9e0c0-abf9-4eda-8378-e7e73cf56b7e CLINVAR:13902 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea37f273-1c19-425c-8be5-e71a230ac36c CLINVAR:1319383 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e317774e-277b-4a21-9327-e44f2b4f8906 CLINVAR:1319383 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04417664-4999-46cb-8fda-ba618ab33ecc CLINVAR:2121544 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27fe4497-2955-4921-ac88-527eb15b00d5 CLINVAR:2121544 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f132896-9976-4d18-a118-dda1d5d95ef2 CLINVAR:864271 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 31a84854-a01f-48f6-87d6-3357350e67b8 CLINVAR:864271 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02fb3505-3006-4c3c-a691-3b5f99941e9a CLINVAR:1435320 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d546864d-477e-4358-8549-599fc0093fef CLINVAR:1435320 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5694aa9d-4f5f-4e33-ba79-bdf64ef32816 CLINVAR:582967 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6804be01-be27-451f-bddf-f7d4b3b3b6ce CLINVAR:582967 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9ed358e-3fdd-4c34-b98b-51c4f36f6c54 CLINVAR:2038636 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60d04fb2-efd7-4251-904f-f990c46b5f92 CLINVAR:2038636 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f056c3a5-e886-4fe8-9795-25afef90a217 CLINVAR:2115774 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46de5ca6-6797-4988-9b69-f3ca7ffc8bb3 CLINVAR:2115774 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 746bf4a1-8f5b-4f89-8733-3007e004d813 CLINVAR:846424 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1bf5f2b9-482e-4565-89bf-54c091006500 CLINVAR:846424 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c610fef8-b902-4fd7-8f92-bc168b23b8f4 CLINVAR:1365004 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e07f93c5-c8e5-4a34-9990-5177afc99b60 CLINVAR:1365004 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bc897c6-3414-4f73-a27e-35f1aeb1f21c CLINVAR:937279 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f6a4545-1126-42c1-9f31-6dee6551ea8c CLINVAR:937279 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37fc5414-e9f8-4448-a2cf-eda8c26c728f CLINVAR:1485224 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60f78fe7-b61f-4111-a97e-7ccc16fac329 CLINVAR:1485224 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 987c6f91-07e2-4c20-a2b3-847cab2e9fc3 CLINVAR:1018068 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 600835fc-a51f-4ea0-b9bd-626540a8bed4 CLINVAR:1018068 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0242dff-3190-4484-a20d-c65ec8e0ed62 CLINVAR:1368262 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4aa4b8df-23c1-4fec-8afe-b661596eb8b2 CLINVAR:1368262 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0c9d11a-9d66-434a-9c15-d8ae3a88a9db CLINVAR:409811 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b16a13b4-f6d9-4c58-96d7-95a9d87a1742 CLINVAR:409811 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b458a20-a098-4e48-85bd-b6d4cba683e1 CLINVAR:1483319 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0472303d-035d-4d93-b49c-70a9077cb93e CLINVAR:1483319 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f10959d-4dec-42a3-8df2-f5d5141b9f8f CLINVAR:1457387 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f39afe2-13c6-4092-a513-9f43818f5bb8 CLINVAR:1457387 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5125afc7-eee7-4c66-a1cd-bfd3d1aa1b93 CLINVAR:409812 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b74ac32b-f6ad-4bb9-9dc7-df920fc3280d CLINVAR:409812 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca9cc11d-e261-4555-90cf-bb38acc21d4d CLINVAR:1509019 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e72b609-080f-448e-903e-064c2e5c670f CLINVAR:1509019 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 613eb752-ad64-4116-a7bc-67b37433fa1e CLINVAR:2041194 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0060e3a-d334-4117-9926-7c41d6287534 CLINVAR:2041194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e132b7c1-e9a7-4835-84ca-43e4070db502 CLINVAR:858173 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6977d68-1136-426e-87e2-c811233df05d CLINVAR:858173 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87732a32-9922-4296-905c-ca26e3970e1f CLINVAR:1949129 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0df71415-39d5-416e-8b59-b26ba543a203 CLINVAR:1949129 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb9da89d-ea68-4fce-bb10-3085c7de59d2 CLINVAR:1003366 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f44728bf-6a84-4bf5-9072-dcfa7945f555 CLINVAR:1003366 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a63f06d-cd96-4a9c-81c0-e1572f149fab CLINVAR:1514219 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21ab50e0-36fd-4ea3-9303-7ee2c0ec4ae4 CLINVAR:1514219 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6032520-25bc-4712-9533-2d79086ed8f8 CLINVAR:1512969 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d82e28d6-412c-45d8-8291-02e0cf16ff84 CLINVAR:1512969 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43c694fc-05a4-4007-bce5-352d00a9048d CLINVAR:2003504 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ccc446c-087c-4be3-8393-c7d7a5d53561 CLINVAR:2003504 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a00ca7e3-8253-475f-b01b-c5568d180aae CLINVAR:1001532 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76f5ba8f-f527-4db6-926c-26d69d6d8e48 CLINVAR:1001532 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7798aa37-edb0-4790-a1c3-51048e76a206 CLINVAR:1507291 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0002efd8-e902-4dd1-8b07-f08a5cf28871 CLINVAR:1507291 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8790dcd5-2b12-4d3a-9661-123052f3dd9a CLINVAR:1058050 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7823ebe5-12c7-4a45-ab74-a970492c2f3a CLINVAR:1058050 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a67c1bf-3a47-49e0-bef4-f52001c85972 CLINVAR:2465691 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0898dd86-e9c1-4610-b3c8-2a04dea12bfa CLINVAR:2465691 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 598a1cf4-b155-449c-b0a5-cbabcc9b3a50 CLINVAR:967043 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dcdf1adf-e39d-4349-b17b-35e2d6fc80f0 CLINVAR:967043 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 315e0604-ff58-4d4f-a02c-f94fc6737409 CLINVAR:1018620 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ad3f8d8-5def-4041-906d-880440aa1140 CLINVAR:1018620 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97bbffff-22c2-408b-9254-2eb6778d735e CLINVAR:464012 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1e5455e-6d2a-4c26-84b7-b1b6ec65ab46 CLINVAR:464012 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56af1725-c48b-44f6-bb53-01be621e825b CLINVAR:1392067 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d49a7f0d-bb8f-4062-bb72-a856dad4def1 CLINVAR:1392067 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01147c85-0924-4bb3-832d-35f875ff120f CLINVAR:966213 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c046399d-309f-4f19-acfd-03ef53940ab3 CLINVAR:966213 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad7674d7-5e8d-4260-b080-f747d058878b CLINVAR:1351602 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 79258cff-1147-4fbd-bc3e-eba7e6333373 CLINVAR:1351602 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4da566c6-707b-4003-a884-ea31374d6326 CLINVAR:851830 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3efc9039-2ff8-4bc9-90e5-14dc25fef825 CLINVAR:851830 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c067dfc3-52b9-4f58-a785-ae725dd5628c CLINVAR:1042743 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen beccb6e9-cd90-46b1-97bb-e80f155a45fb CLINVAR:1042743 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d781ec6-17bb-4de4-b0b4-e646098bd3a4 CLINVAR:1354221 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6098d1f0-a937-469c-9762-6e1faf9ef15e CLINVAR:1354221 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efa9ade5-a6b3-455a-9886-4204c65eb823 CLINVAR:839054 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bfbc8c1b-53e2-43e9-86be-e711c34b8b14 CLINVAR:839054 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0f5b248-0f85-41a5-a90e-ef59a8cb45f0 CLINVAR:532654 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba3267f6-38f6-4fa7-83be-fc797229878f CLINVAR:532654 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4992d297-d1c0-4eb6-afcc-d970c5e1c08f CLINVAR:532655 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ed39238-feac-4e87-aeef-07b874c4db5b CLINVAR:532655 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46ca530d-3a48-452c-aca0-e7989779121f CLINVAR:1350529 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d8d1322-f19c-4768-8957-8a33bb6af46c CLINVAR:1350529 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16535742-c11e-431d-8d8c-18bf2fd9baba CLINVAR:581279 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c720b5ca-de50-4a2c-9bb3-457621ddaa7f CLINVAR:581279 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc8707b4-48ec-4712-95fc-1bc5a67318ec CLINVAR:1421576 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43eb1c2e-982f-4e59-95cb-5c0c52f4f916 CLINVAR:1421576 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e370ee4d-7030-4fa5-8f33-876306e01bef CLINVAR:1415388 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36aea1c0-4906-49ad-a703-59c565c474cf CLINVAR:1415388 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2991d89-2588-4227-b92c-eb999a001e23 CLINVAR:1010346 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59fef815-0d11-4748-b879-ae11d34a0f8b CLINVAR:1010346 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be66c8de-5d28-4cf6-a23c-6a5a7b6c202e CLINVAR:1000965 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f18a5661-04e1-4ade-9dbd-b95b7a7b5ab3 CLINVAR:1000965 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88763639-7f27-4187-ad5c-87cbab2f1664 CLINVAR:1404038 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0265f2bb-d1d1-4b7c-b3d8-422e213f89d4 CLINVAR:1404038 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81040274-5488-47e6-a769-08da2c7d05a3 CLINVAR:1436178 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ffa16701-45a4-450f-a4a6-1d0020943f2f CLINVAR:1436178 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dbf1f9f-bd24-414f-a61b-dcd08618ae93 CAID:CA383506026 biolink:genetically_associated_with MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ccdedfbf-93cd-4c89-9705-7ee95413162d CAID:CA383506026 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63675aaf-b173-4adf-840f-38e9dc155cda CLINVAR:586022 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86d47305-3d60-4432-8a1a-a1e5f40c498b CLINVAR:586022 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebd706f4-f70b-46fa-8450-31d3bcf258ae CLINVAR:560681 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00e747f9-dfff-4976-8d3e-4054fe65b0a1 CLINVAR:560681 biolink:is_sequence_variant_of HGNC:7227 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f887b48e-d2e7-4874-b452-5007cae0ed79 CLINVAR:635781 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0601f855-2393-4a3d-a393-1f31ce9aba4f CLINVAR:635781 biolink:is_sequence_variant_of HGNC:7227 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1e5f067-20fa-4c8a-b6d3-51377ba96d5f CLINVAR:635782 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 308c32f4-0b9b-48b9-a5dd-51591a591b45 CLINVAR:635782 biolink:is_sequence_variant_of HGNC:7227 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d29a1da5-2b66-484b-bc32-b0d328f7b6ed CLINVAR:254648 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1617cf17-6d65-46a3-b319-841f74c19a07 CLINVAR:254648 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 345d06e7-5bd1-473e-b14e-0c07b4d7c406 CLINVAR:427633 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen abdcae26-e03b-4059-9016-6cb293291675 CLINVAR:427633 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50a26672-1661-469b-8b26-b71aa1ab22f3 CLINVAR:393444 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3bffdfc3-b715-4d18-81e7-5e42b3282d18 CLINVAR:393444 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e80e3ce-0dde-422b-be5a-ed1c968dfa69 CLINVAR:549555 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 33758b0e-3385-4585-ab83-682c6e587170 CLINVAR:549555 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01cec4a2-ed14-4239-969e-5042531f3bae CLINVAR:36360 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cefc7d0d-001a-4f7f-bc1e-63576236847d CLINVAR:36360 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 999b42b0-9231-4a63-9355-952d525129f0 CAID:CA2497028946 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 630e6693-be0f-48cd-8e3d-805018f17d64 CAID:CA2497028946 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71cfd79c-b5f2-4673-8fe7-b73870d64a1c CLINVAR:1966519 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a7a199e7-2437-4abe-a478-2e786bce0341 CLINVAR:1966519 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e08957fd-0836-4a08-80ed-b5809f40bf0c CLINVAR:2780381 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1d574e1-4f3d-494f-b641-b575a484b57c CLINVAR:2780381 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b75eb74a-1c1d-4282-ad89-620d8be6c9f7 CLINVAR:2088121 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54bdff4c-e8d5-4c95-bebb-46e5281d599e CLINVAR:2088121 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 677a9c42-b379-4bcd-89ec-1c1aa0cb8106 CLINVAR:3018366 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ae63b99-e3ff-42d3-9c66-a64d6b716419 CLINVAR:3018366 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dbeddc1-855b-44f8-92e0-97b6b9c141ef CLINVAR:2678493 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 665a55f6-67fa-4c56-8fff-99cd2dc9c2d8 CLINVAR:2678493 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5bdd858-c7ff-4dbd-ad41-ce087f0d364e CLINVAR:2856448 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a0f5a41-d38e-4a76-bbf5-9828b099eef1 CLINVAR:2856448 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3cdc6d9-bdf2-4c2c-b560-0a468cae36d3 CLINVAR:2678496 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c167d7f4-1107-4b1f-9516-c70523be591d CLINVAR:2678496 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 772346ae-12b8-4ad9-8463-403b8a6eaddb CLINVAR:2713530 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f5e3e9d-88e6-4733-906c-0df5fa06f725 CLINVAR:2713530 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44e820ad-2269-4681-9ffc-ad67b951819d CLINVAR:2697441 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen daf3f643-1d2d-4802-b73c-77ab70a65481 CLINVAR:2697441 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e4c8a65-ecfa-43de-9f31-ef0ce97808f9 CLINVAR:1361711 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0704e3d8-8d2b-474c-8ee4-6d431992b395 CLINVAR:1361711 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b2fbfdd-ea22-4ffb-a63c-73bcc74440c0 CLINVAR:1610586 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e6652ee-93cf-4c95-b35c-0cd7ac2e32ef CLINVAR:1610586 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7687906-2151-414b-85eb-8729549f5866 CLINVAR:569757 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 783b5f86-c627-452d-a44b-8378da77f805 CLINVAR:569757 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af842b7c-9936-47f3-bb60-ea67493c9079 CLINVAR:1428742 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 094d22d8-edc1-4ed9-bf2c-521455c72842 CLINVAR:1428742 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b47475b2-d071-49dc-ac83-4b95227986fb CLINVAR:864259 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c3c7cb4-dcaf-44d8-994b-4338f2ad219c CLINVAR:864259 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e446b47-4460-43df-8b1d-9aa29cabbbe3 CLINVAR:1488888 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a9a3c0f-9bf6-4217-9f1f-db17bf61205e CLINVAR:1488888 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 595c697a-040a-41e4-b0c3-7b31d232748f CLINVAR:1364020 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7717bb6c-f06c-49d2-978a-2a40202519f8 CLINVAR:1364020 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ff10800-3fdd-4280-bad0-0678b5c2d98b CLINVAR:409815 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2c0e4f5-199c-413a-80f1-556e79d7aaf6 CLINVAR:409815 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43f6a93e-dfcb-491f-ba8e-37fd3172cf62 CLINVAR:627343 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05c56ab9-5d29-4650-be72-3ef0a45b4978 CLINVAR:627343 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d66601c-ae03-4a15-a29b-1af053b937ac CLINVAR:2893433 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b71f08ff-12e4-4d94-8849-c517b626f60c CLINVAR:2893433 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec663fd9-bda6-41c7-9833-02b3bac93b5e CLINVAR:2694690 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef73cc38-87ad-4c01-8f70-526a59fe78d2 CLINVAR:2694690 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39247fda-0a08-4f82-95b9-7f5e30aa3b07 CLINVAR:2815871 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98c09e31-03a0-40c2-a8a4-549de662c970 CLINVAR:2815871 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 552a2a8e-b87e-490f-bffe-f3fce5c472b5 CLINVAR:1356920 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 600b30c2-b827-40f2-9176-f323e19dd660 CLINVAR:1356920 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7e6af7a-6ce7-4058-99ec-ee51a871e2a4 CLINVAR:2752186 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6cd9b329-18b5-49e0-8b85-0adfb00c8a08 CLINVAR:2752186 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2187d621-5494-4507-b8eb-46af13278478 CLINVAR:1057196 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ddc804f-148b-427f-b779-69a028fa0153 CLINVAR:1057196 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 753cbb08-f418-46d9-8506-82d53dc249f4 CLINVAR:1522045 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54a24f1d-37de-4b0b-afb6-ce63cef4f663 CLINVAR:1522045 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f07a20ff-6ca3-4fe9-ae4b-d4191694c597 CLINVAR:848735 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f44534f-0bcf-47cc-aaed-d24f33c5d211 CLINVAR:848735 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4931b739-0cca-496b-9b10-c59e596a319f CLINVAR:2739759 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f8786e0-2201-4915-9b78-a4e09be6eee8 CLINVAR:2739759 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae7baf84-1248-4b0c-b05b-dff5ed788a9e CLINVAR:339803 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4e5171b-526b-40c8-8e4e-fcce28cbb711 CLINVAR:339803 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f1d1f11-5ee4-461c-a65d-a830277a95b4 CLINVAR:3023071 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1402dcd-aaa2-4329-a218-9c2810652aa8 CLINVAR:3023071 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0979d3f3-4634-4465-96ea-0ab40099e307 CLINVAR:2995353 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1c716e3-4cb6-4308-b156-9467b087e12e CLINVAR:2995353 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fc9d7cb-f4ca-437b-b985-3184766b5ebf CLINVAR:1718293 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ec9d538-1c74-490b-9680-bfa402a7807a CLINVAR:1718293 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0813983b-deea-4674-8196-20ec123ded22 CLINVAR:860793 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a61142da-2f7a-4f8d-933a-5002aa831a5c CLINVAR:860793 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 771e6a3a-f1f6-4dd4-a985-adf12d124dcc CLINVAR:1420902 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da3b31dc-923a-4a0e-9862-7d3a24bb162d CLINVAR:1420902 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a02b5c6-db8d-4d10-81c6-9911401faec3 CLINVAR:1046278 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8b473b3-b3af-4350-ae20-315a14f01dc2 CLINVAR:1046278 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e2c2bb7-b0a1-46cc-900e-d78a336e3be1 CLINVAR:860545 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72b92caf-a6ed-4a80-af92-a8c396df57c8 CLINVAR:860545 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37cb581a-96cf-41e7-876e-3ece96c07b5f CLINVAR:963047 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8dc7f11-93e5-4ccc-aed8-a8e46fb3bc38 CLINVAR:963047 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eda1aea-8410-4b7c-a76e-c7236f398cec CLINVAR:2879675 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36c5e92d-ada7-4f7c-ac91-b7bfa186b5b3 CLINVAR:2879675 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35e20b8b-dc23-4875-9785-7100d6b653ef CLINVAR:2741843 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 241c2429-770b-42f4-9466-240abc21e9ac CLINVAR:2741843 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7df52a3-8038-475d-b120-d1defa1295a7 CLINVAR:2749609 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a182b37a-e858-4dfe-9142-74663ec7acf3 CLINVAR:2749609 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f530a439-4802-411c-8d53-cc5bdf0c86f6 CLINVAR:2864169 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c6f9bb1-a74d-4eba-ab73-0d1d0d5fb24f CLINVAR:2864169 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebef80c3-2f7b-4772-9c86-086294791080 CLINVAR:10199 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cfc933ba-e90b-48b3-b12f-6bdd592d6eef CLINVAR:10199 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21816ed4-6057-4a17-9293-039e003a1691 CAID:CA414892027 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c21593d-c8be-44fa-9caa-5c0964e4064a CAID:CA414892027 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3739c4d-5343-4eeb-b312-02176928f0a8 CLINVAR:209092 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 354f1f67-80c3-4498-8038-9c7cf4b956ba CLINVAR:209092 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91dbd60f-2439-454a-9673-94cf82d709db CLINVAR:373121 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4e5e9ea-a1e8-4663-aae1-76245d3555a4 CLINVAR:373121 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c60f4dd4-5363-43cf-a307-80ddac51193e CLINVAR:7280 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54a24b49-e4cc-47a9-944f-794cb98a6285 CLINVAR:7280 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7425f86-477e-4345-bf88-9701b25a9b67 CLINVAR:449326 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bdea9ba2-b162-40a4-adf9-e14d5a2251a3 CLINVAR:449326 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9798a6e0-d037-4fd0-be6d-f981b22cb4f6 CLINVAR:931135 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 46993cb0-23fe-4780-bc8f-c5ef3041b6eb CLINVAR:931135 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9074e979-c68f-4346-8987-61d7f2652b44 CLINVAR:7281 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0200f14c-556c-4b60-bd20-b438c16909b9 CLINVAR:7281 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e163dae-2486-4573-b921-867ad798c859 CLINVAR:7285 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9bef0750-e0f8-46ee-92d3-948dd304dfc2 CLINVAR:7285 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78782ca8-8d15-4bbc-839c-f701c74279d6 CLINVAR:7279 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37728855-3991-4d5d-bc18-18919dd306ce CLINVAR:7279 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d45e8f3b-44c3-46cf-b794-b6b0882a5404 CLINVAR:158984 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ccf24571-532b-4215-8ff7-7b75614347f3 CLINVAR:158984 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91966fff-83c0-4098-810a-fcd3f05db431 CLINVAR:158987 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1976a52-4d93-4961-8d27-10d413d4266f CLINVAR:158987 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30012a21-f386-4c06-9262-7d6030988670 CLINVAR:11055 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 16fff274-ac64-4c4c-a306-495ed2340139 CLINVAR:11055 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c8b4f2c-67a7-427d-8451-f62b6c0bee88 CLINVAR:11060 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca97534b-c04c-41fb-a56f-30ab62d5bc67 CLINVAR:11060 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30bd4605-eccc-4f73-8224-07ce2e9850f1 CLINVAR:11057 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 389cec6a-fcd9-45eb-8c3d-a507165d3beb CLINVAR:11057 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1504b553-22b4-4079-bc2c-6167bf80c150 CLINVAR:158926 biolink:genetically_associated_with MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7900f6b-1fe4-4142-8903-04cadd3a7a46 CLINVAR:158926 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 011436b4-7ca5-4f6b-a9d1-08e0c48e0706 CLINVAR:167307 biolink:genetically_associated_with MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 430873d6-74b9-4f0a-b629-cc0ec1d7967e CLINVAR:167307 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8505018f-82e1-41e1-be7e-13c3fa35f73c CLINVAR:930768 biolink:causes MONDO:0010683 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53e850ba-caad-4fc2-ba76-1ec13c9b37de CLINVAR:930768 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0497eecc-97a8-4537-9613-53e2a57f62c6 CLINVAR:158953 biolink:associated_with_increased_likelihood_of MONDO:0010683 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4865bf4d-e437-4bef-bb08-fe2b82c2eb53 CLINVAR:158953 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53cefb8d-a91e-44e0-83ab-45e0822e50ac CLINVAR:552042 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc66cdc2-ada5-436e-a1ce-1be328746dea CLINVAR:552042 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bab95437-da41-4405-82f1-495218693e8a CLINVAR:553493 biolink:associated_with_increased_likelihood_of MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34fca02e-bf48-45cd-8b7a-699d82f8b05b CLINVAR:553493 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d4df375-cc1e-47c9-8d36-3e57c5ab5149 CLINVAR:496132 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5dc90812-ab39-4021-96cb-6b17576db037 CLINVAR:496132 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ce7210c-706c-4e68-ae81-303a3af903be CLINVAR:506284 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6b78c32-1a59-47c8-abd4-7cd46be7da76 CLINVAR:506284 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf500d61-b44a-4588-bd3f-e647e0e2980d CLINVAR:552018 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 599c52ad-e05a-4354-b14f-49cb5af5ec60 CLINVAR:552018 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a38bc860-08b3-46e8-9acc-e1c96a766446 CLINVAR:4027 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e448faa-f07f-4c99-ab79-e1a496de7b01 CLINVAR:4027 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8df7aa09-1081-4e67-b767-ca42a7acde1b CLINVAR:2710027 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb01b30a-abda-4975-9911-bfb7c4f2bb51 CLINVAR:2710027 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4287c4f0-488c-4589-a5ad-e8a78ca41e1e CLINVAR:1253809 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68395b13-f17e-4799-a108-576e112c4288 CLINVAR:1253809 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3808c554-6a7f-42bd-9371-eaa03ceeecb5 CLINVAR:642707 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93eb4d1b-873c-40e6-8939-b73bb72c69aa CLINVAR:642707 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddcad86d-60be-4e3a-865c-79d0dd8cbd02 CLINVAR:12996 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a65a3d34-a1cb-4ed9-8a6f-d697270ab40b CLINVAR:12996 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65c34721-d6cf-4053-b1fa-bc2f043a1aba CLINVAR:438314 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 652c55fa-03d8-4c55-91a8-d37deca7a11f CLINVAR:438314 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a975787-5923-4aa1-8e87-0d8d3b1ac475 CLINVAR:203590 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 431d0165-c96b-4722-85f4-355d5e6e0c7b CLINVAR:203590 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c56b69e0-8374-4e22-9b39-a2b390cfeb3e CLINVAR:657040 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52f45f56-10ad-4369-a662-68633f36e90c CLINVAR:657040 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c607360-5b17-4ccf-9e6c-660efe0e4a00 CLINVAR:440637 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9cdfbb16-ac3d-47e2-bcb7-fa63966868c8 CLINVAR:440637 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 376066d8-5aaa-4439-bb7d-0f28855d8939 CLINVAR:926526 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc76e7f0-852f-4136-b917-60c43342bfc0 CLINVAR:926526 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01a154a3-3c58-43c4-9fdb-ecec99413fbd CLINVAR:251817 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8db88d80-8d48-4ba9-8636-92110c7352e1 CLINVAR:251817 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f729879-b36d-47c7-9d9c-5fab2736663b CLINVAR:251766 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fdda3ec-e726-4033-a854-126f0055b67f CLINVAR:251766 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d104b9dc-ab08-400d-abf1-9168b8498681 CLINVAR:251765 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 640dcb39-3cd5-488e-ab13-3a17512ec120 CLINVAR:251765 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a24d1c4b-7b81-4b31-94d2-293d20b3eafa CLINVAR:936786 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29b25139-f9db-4bc4-b116-6e1c8740a4af CLINVAR:936786 biolink:is_sequence_variant_of HGNC:10023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3132991-5c4b-4a0b-9d79-d50c0c241c8a CLINVAR:561681 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 33a83dd0-22e0-4bf1-bd66-ca74cbeecf1d CLINVAR:561681 biolink:is_sequence_variant_of HGNC:10023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6780705a-07f1-4bfc-a3cc-ed7e284ceb56 CLINVAR:560679 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91b42406-b99f-41db-a3ba-9accb035f8e9 CLINVAR:560679 biolink:is_sequence_variant_of HGNC:10023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bddf1ba-ea88-44b3-85c2-017269a3b4df CLINVAR:451330 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 86364359-ffbd-40d3-9e20-05b83dcea3d9 CLINVAR:451330 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fb235d4-7150-47de-bb1f-75f99bf0ae93 CLINVAR:12982 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d618de93-10c7-4555-8317-21c63be56f10 CLINVAR:12982 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cec8cb94-e71b-4664-a6a7-b0c8f6281233 CLINVAR:582126 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba48f529-a55d-4913-af94-896ecff41c5c CLINVAR:582126 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7003098-3cb9-4942-bd2f-8317ed6ad0fb CLINVAR:201153 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7303690a-9d0b-4fb0-8735-3c40275370ad CLINVAR:201153 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da268d45-bfc5-4391-953e-5e4e04612362 CLINVAR:1610571 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7bf7baa-c8eb-4796-aba0-c707bba08c40 CLINVAR:1610571 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58739abe-dcbc-4c78-b104-2cde0c71056e CLINVAR:1576061 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77e0393d-513c-48e9-9375-19d2b91b7ce4 CLINVAR:1576061 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1afcec33-4cf9-4a7e-a137-501ef84a2549 CLINVAR:2295171 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b8d3445-37f6-4679-848a-e5fa5b08a8f6 CLINVAR:2295171 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71febba2-075f-4ecf-a256-39e36b78fd5b CLINVAR:18012 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d33fc6bd-3473-4b73-b8e0-44511fbc6557 CLINVAR:18012 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 843a830f-d8e7-445e-ab35-61602e4958f9 CLINVAR:226353 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 519ab8f2-c24d-49d1-a021-714bd619ea3d CLINVAR:226353 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef37e00a-656d-4736-adde-1a8d3f865356 CLINVAR:328053 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98ee2e04-582c-4e17-a79d-5ac19f36b03c CLINVAR:328053 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c6a8d91-0419-470d-b8db-7e447e598070 CLINVAR:2057364 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62a602ed-3fac-4d8b-b99e-df4a22250c61 CLINVAR:2057364 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c04700f9-747e-4d46-8c8c-f49f29c05879 CLINVAR:251886 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed87cde1-280b-4ff0-bb45-48f891f85d5d CLINVAR:251886 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b85b1899-bee4-44c2-912e-5ee74a9735f8 CLINVAR:161285 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9acf973a-884e-4269-9729-c04f725a4bcb CLINVAR:161285 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acc59135-8d61-4ed1-85a7-9374ba1db5f1 CLINVAR:251864 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 505d8b46-1ce0-482a-90be-06d96228c1a0 CLINVAR:251864 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab0483dd-662c-41cc-9cd2-1a30b5c5afaa CLINVAR:251865 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1637c587-a507-41ca-9d3a-f1211e460ed0 CLINVAR:251865 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c87e926c-54f7-49a0-8c18-bb98eec3ae25 CLINVAR:251767 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8525a1e4-6784-44eb-8efc-0dc28226674c CLINVAR:251767 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c062ad68-c9d8-4b11-bbbf-b7647efbe5bf CLINVAR:3694 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b16b6074-822f-4403-ba3d-028a04114c88 CLINVAR:3694 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc41bb56-a8de-497f-bde3-2bdba4323a4e CLINVAR:440548 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7674fa52-8051-457b-8110-49f9d7490c94 CLINVAR:440548 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ae9a74e-2cdf-4b50-b3a9-5914f16cdfd3 CLINVAR:252308 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc3f4305-7b54-4fc2-9e98-db644412b4d3 CLINVAR:252308 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a88359a5-d73a-4b5d-b9bd-a0566af41e28 CLINVAR:993226 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd247bf8-4e9f-4bee-a306-5c7506769565 CLINVAR:993226 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8837b72-7040-40ec-9447-53436bb64a19 CLINVAR:251900 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 547439d9-8834-4a1e-96fa-68455406fd6a CLINVAR:251900 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 147dbf92-7328-41a7-bffe-91b34748af8d CLINVAR:3696 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9342012-ff0f-4533-9408-9e3515408a02 CLINVAR:3696 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea6005fa-9fe1-4afd-927c-ed429abc5f1f CLINVAR:251731 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 20af0a3a-5f8e-4356-a8d4-ffa14fa7a7c8 CLINVAR:251731 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c38446f-5ac4-4e81-801f-9582ddfad11b CLINVAR:251870 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f3f83e3-4cc9-44d4-89b1-c72e42353f28 CLINVAR:251870 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7eb23535-ec47-4253-b5fd-96bf7787b95f CLINVAR:919898 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3169cdd3-ccda-4863-97e7-644b3a96da64 CLINVAR:919898 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ac97198-db68-46ae-9094-f9b08cde8925 CLINVAR:251130 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 11a99c6c-8f10-480d-8109-84eb63981ecc CLINVAR:251130 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62af0b0a-e47b-4699-843f-5afeef20534e CLINVAR:161278 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 728620a7-6907-46fe-9f10-f2f8d443655a CLINVAR:161278 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5de49fdb-e0be-4b76-a5f7-7a32865f754d CLINVAR:1509293 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be762877-f487-447b-bdc3-60e87d8d8369 CLINVAR:1509293 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a6698e9-fed5-4cae-9608-d988d293b002 CLINVAR:251949 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 342db3c8-871e-4a40-9438-61e8465d7833 CLINVAR:251949 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc919f2b-834d-4283-8daa-6822c8861ce8 CLINVAR:251147 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57a42a61-13ea-4615-95bc-f722ad0d436d CLINVAR:251147 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27fb9f26-0882-4286-a416-754719374b17 CLINVAR:1000222 biolink:genetically_associated_with MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ea7550e-c753-4ba9-8e4e-3b91a5053117 CLINVAR:1000222 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6249e2f-745c-4eb5-8a08-e69b6b6a0044 CLINVAR:220185 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 63721980-e05c-4f96-8a19-f7974dd2d625 CLINVAR:220185 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2544bd72-9bde-43a0-802a-353be86fcc05 CLINVAR:233523 biolink:genetically_associated_with MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a377d44f-dc23-4bec-8e73-df9190a98f26 CLINVAR:233523 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8a55f7e-157d-4e93-b9a5-1fd37e65db5f CLINVAR:220203 biolink:genetically_associated_with MONDO:0012249 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ffeb834-2a4f-4882-9ab1-1047c5b5882c CLINVAR:220203 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9474a95b-460b-4e78-8f51-ef151feff98f CLINVAR:449776 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d57a523-a3af-42e0-b5a6-a927d19aec55 CLINVAR:449776 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5174921c-c0bd-41c3-ad05-d8c258948d7b CLINVAR:619511 biolink:genetically_associated_with MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f3d3da5-cc13-4377-bd94-080022ab4775 CLINVAR:619511 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0242a335-a95d-41b4-9a2d-f8ea0e7daf44 CLINVAR:90178 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6648a6cd-d6d0-43ce-91a5-dc349b529755 CLINVAR:90178 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d9e02e9-e64f-4547-aace-e819fcb3fc0e CLINVAR:90011 biolink:genetically_associated_with MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6453709-7ac3-4938-9a55-30d36d1fc07b CLINVAR:90011 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 035acf50-6c03-4f57-a7e8-efb54614dbd3 CLINVAR:561172 biolink:causes MONDO:0012249 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04b828b1-d360-41a4-9175-303b587e87c8 CLINVAR:561172 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9f8c3f7-f86a-44e8-9807-608516f6e475 CLINVAR:89816 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 35bb2e1b-e3f2-4616-800d-2d8d69dabaa1 CLINVAR:89816 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de76ebc3-83a2-4d01-977e-dde2ac46b3a3 CLINVAR:619558 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 183ee0b5-b017-4431-bac2-9b365d3e5d35 CLINVAR:619558 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d56eb541-4c4e-4542-ac01-1e072556eac1 CLINVAR:1067956 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ab56db7-0be3-49ad-b9eb-0864034cbd4a CLINVAR:1067956 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff925ed9-9854-40c4-bf49-5b93e8e531f0 CLINVAR:90503 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa8e2b39-0382-4cee-91bb-85fe2d9934c6 CLINVAR:90503 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc5d3391-1994-4615-a20d-236a7cf2ca12 CLINVAR:142708 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce2d11da-79df-4aff-b139-9723ecfa6e80 CLINVAR:142708 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f1105cf-678d-4ec4-9466-53e68675c22d CLINVAR:90880 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 73f01b43-8d86-4959-ab0e-eef697df7e75 CLINVAR:90880 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d3e3da0-d3fc-490e-95df-196ec7e0f90c CLINVAR:91246 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ed78b39-1dbe-4376-a483-c58e2bb1d771 CLINVAR:91246 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 599b6d0f-4ab6-4528-b6b4-eb2341499787 CLINVAR:246389 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f469f1af-c1d0-4cb1-9895-591487f5dcb4 CLINVAR:246389 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a71e5c21-7109-4fcf-bf18-9612f9be06dd CLINVAR:89573 biolink:genetically_associated_with MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0914978c-3b7c-49e8-ac91-08c81bebcdb9 CLINVAR:89573 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 989ca36d-d357-4022-b9be-c22e85189a55 CLINVAR:455128 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0635eeb9-10fd-484d-b360-8a1a0e9f1752 CLINVAR:455128 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b39f4a85-d620-4a29-b826-e48138e5df96 CLINVAR:140774 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce05ee1d-d472-4d93-9b0f-e10c20686367 CLINVAR:140774 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a078ac48-6bab-4946-aa22-5ec250f1c730 CLINVAR:216294 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 67041f0d-7e94-4cb6-a88b-b795f4218b53 CLINVAR:216294 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cbbb218-452f-466f-ab6e-ca41f80f43fa CLINVAR:162508 biolink:associated_with_increased_likelihood_of MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f0300c26-b0e0-48c6-ae21-8707373614f9 CLINVAR:162508 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfbf0e3d-f76c-4c96-9580-fd244370863a CLINVAR:91361 biolink:genetically_associated_with MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9299412f-68e2-429e-9352-3ca0779675f0 CLINVAR:91361 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e67ef09-812b-43d7-b429-86885b259da3 CLINVAR:91313 biolink:genetically_associated_with MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3caf6bb-d34d-4205-ba32-25d19a42aeac CLINVAR:91313 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10b9d0e8-e147-425f-9f90-62b6bacbb919 CLINVAR:439243 biolink:associated_with_increased_likelihood_of MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78efe0f8-84ed-43ec-9c90-ab7b90b61138 CLINVAR:439243 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4ce4a77-5f2a-4267-b7b9-31fe52c5297f CLINVAR:480313 biolink:causes MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc823f44-0245-4ee5-b885-47d582ab198b CLINVAR:480313 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ee70803-2ba3-4dc5-a895-390fb4a87e86 CLINVAR:2673296 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fab6d9b7-dcf3-4e44-b526-4021fcd7ca77 CLINVAR:2673296 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e3b5c79-d139-4ca5-95ae-7b12d8222616 CLINVAR:2673426 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fc00d423-3421-4080-876d-3c336720c275 CLINVAR:2673426 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae08ed8e-51d7-48ef-8889-dec030185b13 CLINVAR:811810 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f849513d-bf88-4c55-b916-4fc152ce47ab CLINVAR:811810 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da461521-1906-434e-81b4-d34639df183e CLINVAR:627180 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 852a7a0e-5f47-412b-8bae-9e24d6df6700 CLINVAR:627180 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 578cf386-5214-4132-87e9-52b43ecd69c8 CAID:CA2580612120 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d05f6da1-d0ac-489e-a965-632fdc0655b3 CAID:CA2580612120 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e128e2fd-9e89-4d83-bf98-f1156d85d70f CLINVAR:2084589 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f61163f9-8423-434e-af88-0f31ec6a74b2 CLINVAR:2084589 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ae1223d-b3b1-4152-8b2c-0ddea4f499bf CLINVAR:972755 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12691392-5a09-4f49-bb1d-d16d0fadceba CLINVAR:972755 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7e3f0cd-4df1-432f-8a26-2124ee8f11be CAID:CA386965420 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8944fafa-4a28-4be4-aa33-6086729d50ff CAID:CA386965420 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f178f380-3dcd-4c80-a968-3932bb79209b CAID:CA386965487 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96b31c8c-73f2-480d-9015-ee4e679751e8 CAID:CA386965487 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1f9fe86-3cac-4034-b7bf-b062b365ddf2 CAID:CA386965729 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe5e5fbd-3a42-47c5-b21a-2c95db1ecb3e CAID:CA386965729 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 800603d8-6aa5-428c-91d5-86ac26099cd5 CAID:CA386966305 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 809a6bb7-576e-406a-946b-762cd2ab5ab6 CAID:CA386966305 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf365e2c-82c4-4900-87c3-449ca1e270dc CAID:CA386966297 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a545ba5-66d2-41e3-a622-4bbaf796be58 CAID:CA386966297 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0379e7f-7387-42e6-8e7a-1bc48553d6a0 CLINVAR:1304284 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 949888e6-eab1-48e9-9a8c-0e9b83e4e536 CLINVAR:1304284 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b874f7c5-e0db-467e-bd29-ce8629b8cfe1 CAID:CA399806749 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1151c25-20d2-4cdc-91e3-ecda3112a502 CAID:CA399806749 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 212be147-8c02-4110-bfde-cb35038e6c06 CLINVAR:3391415 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 000c9a4c-37d9-443d-879f-bf1dd2ff7cf1 CLINVAR:3391415 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7af72eeb-66be-4881-afec-bf8298f8b4c7 CAID:CA399805683 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf04bb82-b306-4a12-a260-aceacdb8bb69 CAID:CA399805683 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b377adbd-a986-4e0b-98ef-ecf722b23535 CLINVAR:91386 biolink:associated_with_increased_likelihood_of MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba0badd4-10d4-4882-8e96-909c3e480cf7 CLINVAR:91386 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38b19e04-bdf6-4fa0-bcae-37572a1159fd CLINVAR:872112 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe0e1e21-6357-4353-a48f-ea0dff144efb CLINVAR:872112 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa40858a-b089-4d40-923c-52eda8b76910 CLINVAR:156623 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6deebe68-9431-4215-800b-63e00f712888 CLINVAR:156623 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b48ff59-f1d6-4d55-8b48-3933dada8450 CAID:CA2849481719 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd32c013-09e0-4c64-aed5-b3090348aa5e CAID:CA2849481719 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2dfe5ba-8f3f-42fd-a65a-dbf309e5aff3 CAID:CA386966185 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f09ed16-a14a-4bff-a0f1-884f1e94ded9 CAID:CA386966185 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e078c79-e1ed-43f4-af1e-7d55b5dffbba CAID:CA386960147 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5dc9ae70-371e-4f63-bf20-582e7e89aba2 CAID:CA386960147 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6f2d3f1-d71d-491f-91e0-c839718d62ee CAID:CA409105364 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 562a9476-c282-4a70-99ce-593e70e55a7c CAID:CA409105364 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be61955e-4a4e-4f2b-8006-64fcb33812de CAID:CA409108770 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c3a914a-7593-4f16-a867-cf4a6726c82e CAID:CA409108770 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75765847-083f-4ad9-89f1-5a1eeee2bee0 CAID:CA409108445 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 98d094bc-ce91-4aa7-bd05-6182e7bc53b6 CAID:CA409108445 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2ec8d8d-46df-4eb2-b7e1-413ffecb0555 CAID:CA386960129 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78b333c3-7f06-4910-ab99-d9109348ea6f CAID:CA386960129 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d908fe15-5869-454d-8afa-c1b3c5a7db55 CAID:CA386960156 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b218e93b-e0a6-42e4-a85b-9a4debca97a0 CAID:CA386960156 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9f6866a-5637-45a8-bd91-10f71073b42f CLINVAR:387822 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34074904-5e22-4ca3-bb04-dbf012d8420a CLINVAR:387822 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36fa2fa9-b312-4009-b591-be33f27b3820 CLINVAR:853965 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a11c5f12-8a92-494c-8b97-016e2ca0c85a CLINVAR:853965 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ac880f2-a350-454c-bf41-84c8b771782c CLINVAR:205610 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a423bc5f-f4df-4d45-9a55-46bec551967e CLINVAR:205610 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 719e31bc-4c51-42d9-9d8b-213719209363 CLINVAR:891607 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 047f0f2e-4e86-4dad-9a39-960739834ca5 CLINVAR:891607 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e915fd20-062c-49bb-9bdb-fbba66bec864 CLINVAR:205566 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81ebfd8e-fd57-48bb-8fa2-170178fc1350 CLINVAR:205566 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a169eb0f-0404-42d3-90f4-f7e4a101ec09 CLINVAR:328349 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b336c8a9-3fc2-4086-ae97-bc3841369a49 CLINVAR:328349 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bf075d0-9843-46e7-b191-c5797824e485 CLINVAR:2145645 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f84b7b7-28b3-4d0b-b146-0b5aab62300c CLINVAR:2145645 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 377f9327-e9bd-4b3c-98b4-e14b794d5000 CLINVAR:1552732 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afff875e-3db3-46ad-8433-750c3fe44651 CLINVAR:1552732 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6dd3b7d-a767-4aa9-8952-e5cf982d5e2b CLINVAR:439742 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a0ce70c-60bf-4104-bce9-3815b0f03e8c CLINVAR:439742 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3011f696-846e-4ab3-ad36-e8910bb06fb6 CLINVAR:946936 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24a733ee-b1b2-4e49-a372-c7c25297ea88 CLINVAR:946936 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b2d4719-2492-452d-becc-83ce48549273 CLINVAR:143556 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c095252-bfad-49fd-ae8d-a0d6fadbf4eb CLINVAR:143556 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c23c9499-00b0-4e2a-bf78-fd88124dec36 CLINVAR:1684314 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 710e6c78-f2bb-4ee6-a3cf-980afe926060 CLINVAR:1684314 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55d57246-3232-414a-bb0b-1c4410c1ee07 CAID:CA913184734 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5442ec39-d265-430a-91ef-1252e118636a CAID:CA913184734 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22f956f8-65f2-48b5-8b43-9115d27340b9 CAID:CA658795239 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e3198231-d785-4d7f-a238-5c83cf438752 CAID:CA658795239 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8199ec0-eb80-440b-b979-f3ba08ee6bf0 CLINVAR:554983 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5de6d4a-016c-47c0-80ba-2ab85442b92b CLINVAR:554983 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39f4b72e-19d7-4abb-9705-ee61408c890e CLINVAR:849313 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57a12127-800f-4948-9d81-4d9d4331be09 CLINVAR:849313 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99d35027-1f45-432c-90b9-6a4872d85d01 CLINVAR:3020821 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2535848-a8b7-41f1-b52c-16d24e43c698 CLINVAR:3020821 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dce031d0-1d99-4a10-8331-2ad3698c10ec CLINVAR:1401156 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b529f06-93de-4970-8301-0e32a5ee60ff CLINVAR:1401156 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06527cc9-381d-417e-9142-209b98d6970a CLINVAR:2753273 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9479c51e-fcb8-490c-817a-40b22617f902 CLINVAR:2753273 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d9ed577-9108-4e35-9843-5cb29eeb8bb5 CLINVAR:2905469 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5cdaa914-bda7-4fdc-93c5-1313d95bd62c CLINVAR:2905469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89ca4b3b-3554-499e-b0d4-0d5dd2d1d5eb CAID:CA410202475 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1e9f6fb5-c1c7-416d-a9a1-87af1e7e86a2 CAID:CA410202475 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 196e3b05-25d5-417c-ba18-950be41101a6 CLINVAR:944219 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c07bda6-be27-49d6-84ff-078f4f418f83 CLINVAR:944219 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1e358c8-273e-49b6-b77b-aa5bc6c2c1d1 CLINVAR:2732592 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be72bba6-8a81-48e2-aee8-93c9b9e131b9 CLINVAR:2732592 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0352a404-fcdc-4c2d-9259-e3e086fb0089 CLINVAR:1945937 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a28e046-bfcb-4c90-9f06-398b67625931 CLINVAR:1945937 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42fcd734-60a6-478f-b4a3-a38d8ab10e29 CLINVAR:2757681 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6c5f00d-c245-4ad0-9dbd-b5a509abd972 CLINVAR:2757681 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcfc4046-a34d-4440-84fc-d6c23a7fc083 CLINVAR:2883235 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a82f0e81-693d-4fbe-85b8-f1354799ab08 CLINVAR:2883235 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88443ae3-c3d5-49c5-a94b-1fd5bb24044b CLINVAR:2692676 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e098ffa-0829-447d-98bb-b9d4134e8c55 CLINVAR:2692676 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e052bed-4f5c-438c-80be-e805226aa337 CLINVAR:2834717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32b41a9c-dde3-43cc-81f9-30b7f61813bf CLINVAR:2834717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4263439-8e0b-43bc-a978-91203d0b8808 CLINVAR:2730661 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16df4bb1-57d1-4f97-a2a0-a8124f2b9810 CLINVAR:2730661 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3de8a2d-a0e5-454c-8618-97a58269d611 CLINVAR:2859737 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34e43ce2-070f-4415-9483-21360f3a6660 CLINVAR:2859737 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 621e6719-7c6d-459a-be60-489c734edb1c CLINVAR:1898434 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88c08789-9f2a-43bc-9782-01df4e22c0cb CLINVAR:1898434 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 715eaf19-67f1-444d-8289-fae2a8117b91 CLINVAR:1482816 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1e8b50b-d37e-4913-a0f0-38923e1c154d CLINVAR:1482816 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 938babe0-6140-4dce-8f4a-a5c34f651475 CLINVAR:1022622 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d6e7f25-6989-47cd-a8fe-f2d76b5b9732 CLINVAR:1022622 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bce8452d-c6f4-407a-be33-9fb88367edff CLINVAR:2678498 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b485f28c-3f35-4f2d-ad26-e00b39007e6f CLINVAR:2678498 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab4aa65b-2eae-4e8a-9d97-e8a496b2f2d3 CLINVAR:836080 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b5441eb-abd9-4e88-9be7-8dc96aef78df CLINVAR:836080 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39c3a51b-73d9-43fa-b22a-d328313fa207 CLINVAR:2663436 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 809b0cc9-8e3e-4eea-8bdf-5ccb45da402a CLINVAR:2663436 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a04e4258-4ed6-4e62-81f7-cf9284d0e79d CLINVAR:2990567 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fffafeb9-1f5e-4ea0-b4bb-54f0a0735c68 CLINVAR:2990567 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6477ba5a-e849-4d71-847c-160db1738b5c CLINVAR:2959673 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea59bbf2-6a9a-4259-9f20-42a95b08e33c CLINVAR:2959673 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fbff183-04cb-4703-8edc-92cc91ef2532 CLINVAR:2754122 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d692aa87-c6d9-4c8a-9cbe-61ad24c6f01d CLINVAR:2754122 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4fd3c46-2c28-4b93-8fe3-f054eb977cef CLINVAR:339846 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9eca0570-2db8-4838-ade4-6d1cafeb1226 CLINVAR:339846 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 588210bb-4ba9-4ce2-bf1e-2800133f9d47 CLINVAR:2803152 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a709298-5d81-4260-a7ac-b3e1f696a4d6 CLINVAR:2803152 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31b9501e-5ca9-40af-b880-55860ef31ef1 CLINVAR:1989558 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73ac8132-2cd8-4364-96cd-735884656ad7 CLINVAR:1989558 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffa22125-f163-42fe-ae5f-fe3523346f66 CLINVAR:2000813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea6b5dfc-b5d9-44c3-a24d-473b163a100d CLINVAR:2000813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfc5bb92-d7be-4064-a4f9-7868d1f00eb0 CLINVAR:1978596 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe8c7fcb-be82-4f9e-9400-89105c62fca5 CLINVAR:1978596 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cc855a1-3b62-435b-b749-b0b27b26da8d CLINVAR:937462 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c29bb33-0e68-4ac1-97e3-c69f8c714e8f CLINVAR:937462 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e6c3eae-5ff5-4971-a5f3-7e57abdd10b5 CLINVAR:1523457 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5822d58-74e2-47f6-95cf-7a0f41265f0f CLINVAR:1523457 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 482cc043-d492-49db-88cb-1f9cc9156216 CLINVAR:942222 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c40e2a98-2774-4323-b03e-af10d58a05ea CLINVAR:942222 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acbec12b-8e07-4051-aff8-9b01051a8508 CLINVAR:1397177 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b48b995-7f2e-4de2-8266-03dbb05addab CLINVAR:1397177 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2af6c7ba-6503-4bb9-a3ac-d99f01783265 CLINVAR:863315 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96e73bab-9cad-437f-922e-45f53dc6ddf7 CLINVAR:863315 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fdf0450-ff2f-4427-b404-d7a1b8b1456c CLINVAR:845799 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1bf42d34-1609-489e-b577-2e1ef387301a CLINVAR:845799 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee13c353-7de2-4171-aa72-36683bb6764e CLINVAR:960548 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee7c05af-25ba-43cb-8af1-d72f1a6c4a2c CLINVAR:960548 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dc7a293-896a-414a-9eac-8b14c17a20ee CLINVAR:339820 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e790fca-10f6-4ca3-acf8-d020149fcdcf CLINVAR:339820 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2127b8d-0109-425a-9a74-b401107001b4 CLINVAR:3061340 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 315248f9-15ac-4794-9268-9064c747f000 CLINVAR:3061340 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb5559c4-495b-41b6-bab4-68c84b03f418 CLINVAR:1438523 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3d52897-2602-41de-94aa-21a7c3e87073 CLINVAR:1438523 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43304ad5-f991-4a80-9ffa-a584c22515ed CLINVAR:1507190 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa04d3e5-182a-40d5-b6e6-cc013f58ac33 CLINVAR:1507190 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d581e89-f064-4cb4-ace2-a5cbf70868d4 CLINVAR:972242 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 266f9c98-13f1-4d2f-b792-aab57cdcaca7 CLINVAR:972242 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5db95e65-acf8-4419-8f24-0c3f7e667ff0 CLINVAR:1509041 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc326092-cde4-468b-873f-f52f8d0d42b7 CLINVAR:1509041 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f65fb2fc-47a9-4635-a5db-d0793d1e0821 CLINVAR:1010723 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45db93d0-85f5-43dc-9f1c-518ae8ea3530 CLINVAR:1010723 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3db385ce-1db2-4302-a629-fc17fc231858 CLINVAR:1479428 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28e72353-51dc-4ab9-9f36-d3050aea952b CLINVAR:1479428 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9002c657-292b-4eb2-a650-e673a4116ad8 CLINVAR:2692670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37823be8-27bd-4c6b-ad92-6b1627620264 CLINVAR:2692670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3bc2515-d413-4eb6-b648-40fe9654bb3a CLINVAR:2695395 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee93b837-55f8-43f0-b525-4cc39d1c8714 CLINVAR:2695395 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e14dd3ff-a8c4-4b29-a51e-e6e88c5b6ad2 CAID:CA410202720 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 618812a8-7c28-4ef4-9025-83490993a72c CAID:CA410202720 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8217993d-3401-4979-87e4-70957e53b3df CLINVAR:3367215 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f1980030-094d-4b24-9ce9-949ad057a7d0 CLINVAR:3367215 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e248ff85-edac-4b8c-8ddf-e35fad199d96 CLINVAR:1422929 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88902a81-7d5e-4a0c-8d7e-c7dff84c624d CLINVAR:1422929 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4bf980c-0f25-43c8-9ff9-3076345102c4 CLINVAR:1432362 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b44862e-8cbe-4bf5-9870-9827ee82a7c8 CLINVAR:1432362 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23496130-387c-4c24-98c8-fb4a015e208c CLINVAR:1481257 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71c3dae1-8d5a-4472-bbcf-50b8f0faf478 CLINVAR:1481257 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e617ab7-5398-4cd0-b8ba-549be936d3ab CLINVAR:1061802 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ea83917-5b0c-401e-802f-ad48473ac492 CLINVAR:1061802 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf0ba650-5838-4ef1-acda-bbd8cca69e09 CLINVAR:1474271 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 968140d2-6aff-4e64-a5eb-70f4938011c4 CLINVAR:1474271 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc02aa4f-ce53-43f0-a46a-2415cf2e87b4 CLINVAR:1063502 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02514db7-2803-4232-a8d3-f9fb85cc65b8 CLINVAR:1063502 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 006c9aa2-6cca-4f3c-aca9-07d59d967f68 CLINVAR:1371567 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c5cb85b-773c-4f18-8c2e-bf9489702fd1 CLINVAR:1371567 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0484069c-ff9d-4a0f-9a5f-59b73bef4396 CLINVAR:1417387 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 528ba74e-5c33-4021-9f60-4dc5b72a1a4c CLINVAR:1417387 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86d0a7de-a906-4532-ae15-cdf8d7b270c6 CLINVAR:934627 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bda9a58-c0ba-4fce-a09b-390beb6c3529 CLINVAR:934627 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d2070a4-1f44-44c3-b12e-04973704cb99 CLINVAR:1430436 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6031af4-390f-4b4b-8c95-d53258f2a734 CLINVAR:1430436 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd01becb-d551-41a7-8ba4-666bd65a2961 CLINVAR:934336 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77e713e3-371f-4d09-8672-cc299720355e CLINVAR:934336 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 111ac864-58e5-4b48-98af-3c416ede426a CLINVAR:858272 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2a0620f-35af-4703-af62-028107c9535f CLINVAR:858272 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3500811a-aa74-4876-8265-7adbb21a0498 CLINVAR:2752334 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2b7f2a1-9324-43d7-86e7-2e34aff6f272 CLINVAR:2752334 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fe16ef1-3487-4f0a-8c6b-6c95af79b3e1 CLINVAR:1394837 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d39e2b61-b2de-442a-b2b8-e7b40f08c4d0 CLINVAR:1394837 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9723e43c-e830-4238-a363-5a4dd9fa0a35 CAID:CA410203630 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f24e5be-8ae4-4272-9c5b-dbbdcc06d1ca CAID:CA410203630 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d181232b-147d-4856-b5c5-6ce933db9e89 CLINVAR:339845 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7dee13c1-5339-4435-afb7-71a8e1814248 CLINVAR:339845 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 060e0906-f7c4-4090-857b-7761cc4c6e76 CLINVAR:1471561 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d18c241-26c5-4ba5-a196-8c42e7a86ce3 CLINVAR:1471561 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 608a7be7-2973-4bd1-a6f9-1715253b6a26 CLINVAR:1437603 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78650b04-af8b-437d-b7b2-0215200bcfeb CLINVAR:1437603 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75516195-53c1-4230-9e1a-fa9ad681daa4 CLINVAR:1701950 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a42cee0-2a4c-4d7f-b09d-326a121ce1e1 CLINVAR:1701950 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 387f9707-3f3d-4fa2-858d-4c0767d953e0 CLINVAR:1467839 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b02616aa-2090-44e0-8026-c1eccc511e9e CLINVAR:1467839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeebd457-9369-417a-ba78-83223bf828db CLINVAR:1346637 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99c428a6-fa00-48af-99f1-8db91b13e52a CLINVAR:1346637 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c290d770-b348-4da7-96d0-2f54d46e263a CLINVAR:1369516 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 165b0bb2-5f8e-4d8a-88b2-531308393fa1 CLINVAR:1369516 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 469f5516-64b9-46e5-b961-916a72384268 CLINVAR:1411636 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 475d82f5-6d68-44a5-9179-f58565655923 CLINVAR:1411636 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87308730-3b83-4a46-9dbf-5a02f6901554 CLINVAR:988848 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50d9e8e9-6940-4c02-b387-727a87b8470d CLINVAR:988848 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b0f4a13-bae7-40fa-8f64-22dcf3445c25 CLINVAR:936839 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1d1de0e-68e5-46ef-a9b3-2e57c0dc4299 CLINVAR:936839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 100db8ba-8dd9-4013-aff8-87422a1605ce CLINVAR:967968 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e83e0a92-8b2f-4fd4-8a7f-4a6d4590cc35 CLINVAR:967968 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34d9aa8e-e9fd-42e0-a79c-d99d6753c295 CLINVAR:646645 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fcbf2b0c-1c79-4a7c-bb1d-35410f681057 CLINVAR:646645 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3fb992d-bf19-432b-967b-104b21746f80 CLINVAR:973890 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a10899c3-d211-41d9-9c05-54fd61c28261 CLINVAR:973890 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5a9b9d9-c13e-4fc7-8480-f1f401082811 CLINVAR:1718521 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91fbfe08-868f-4995-a17e-9b99c45a8bb5 CLINVAR:1718521 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b66f701-8784-4c5f-9d54-d02c92da4d10 CLINVAR:1684419 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4b28d21-5a05-41de-8f02-c1c40ed7fbc5 CLINVAR:1684419 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acb67b67-8ead-4a45-9b3b-9749bcba9af3 CLINVAR:1684411 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd6d91c8-f68c-48f7-ac79-24857ddf297b CLINVAR:1684411 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 274f0cd2-78ab-46bc-90c7-133ba54a5ffa CLINVAR:1516563 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7449c14a-cf4c-4248-8200-9345c06079af CLINVAR:1516563 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80987154-bd56-4739-89a6-22f31345ddd3 CLINVAR:1493649 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0fa4d465-a5c3-495b-a958-ae625b3c6d91 CLINVAR:1493649 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1ff1ac0-ac5f-4681-a569-9fbab6038818 CLINVAR:1491218 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e571609-6f6c-4c9c-84df-11a85f495447 CLINVAR:1491218 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7e21b9e-b673-4950-bc50-fb8c02f380a6 CLINVAR:1489490 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03ce9669-f6b3-4c97-bbf0-8e658b2b337a CLINVAR:1489490 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 456db96c-8655-43ac-8d5b-851dfd8662b2 CLINVAR:845679 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ecec67d-e260-4f15-bf42-d343e2700365 CLINVAR:845679 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d664ed80-0641-46c5-b1d6-9056008a4fa3 CLINVAR:841418 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20102fda-f148-4c0b-ae86-669cfa35a563 CLINVAR:841418 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94709e15-c8fb-48cd-af32-7b4d73055956 CLINVAR:840832 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be1e6064-0cd5-49f9-9c78-f629ea04ef1b CLINVAR:840832 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44cc3fef-c964-4ed0-b87b-71b28dc1a252 CLINVAR:664394 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c3ba4da-9893-4abf-acd9-6221f37ed258 CLINVAR:664394 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1016e7f0-96aa-43b2-ad95-fc1d039ae618 CLINVAR:648542 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d56c1a15-39f0-4838-af12-1a7f89d15ccd CLINVAR:648542 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74de773d-c75b-4478-ba0a-d9470a6ded53 CLINVAR:1496920 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cfa727ce-9b20-421e-ae10-5e3b78ce42b4 CLINVAR:1496920 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef984458-5b42-4364-870f-fb5344a45a66 CLINVAR:464011 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8381045c-479d-4722-a382-1accb12b7228 CLINVAR:464011 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58c50c4c-2b9c-4e59-9dc3-569f58957ac6 CLINVAR:2001601 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ca99c82-789d-4164-8699-87c72d83e8f6 CLINVAR:2001601 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae41b3ca-f922-4670-a630-de25dfd234dd CLINVAR:532668 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5de50797-0455-484f-9e92-9037a3fee3aa CLINVAR:532668 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1304edbd-8484-4c6e-a890-ad25409f0c94 CLINVAR:836066 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3cc4cbf1-9e3b-487e-b174-d22ce5e79b70 CLINVAR:836066 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e722f82-5c21-4b61-8850-599dd2109c37 CLINVAR:663181 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f090ffc-2f84-4135-8c1b-e26d1cb2f1cc CLINVAR:663181 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 645cc39e-e479-4ee1-8f98-7d36b162be74 CLINVAR:663009 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 141cbb8c-c5cc-4ac2-9a47-feea18c36d1e CLINVAR:663009 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c85b3d7-97f4-4912-b0f6-b738fb714493 CLINVAR:658039 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4fee12db-f4ad-43b3-b519-428e2c300798 CLINVAR:658039 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64701edd-b9a5-48cb-977c-d8aea12e5a08 CLINVAR:657868 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79c7b674-86ea-4f38-9018-98e3463e59bd CLINVAR:657868 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7da1b21d-56d1-48d8-af2a-5efadb784ca5 CLINVAR:656386 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b63341c-5846-4ebb-b247-84a316401ca4 CLINVAR:656386 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89a4703c-108d-4a17-a597-f8149e904651 CLINVAR:650331 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f77eca8-6cc4-4db1-9af7-00c8c093c2d4 CLINVAR:650331 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac8bf83d-ee35-4c8e-82c0-4bce72b1ebd6 CLINVAR:650005 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6f999f0-b6cc-4733-9310-59fa61f33c9f CLINVAR:650005 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4291040f-b2bd-4266-9296-7c10fdda4849 CLINVAR:643861 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2c342c8-a9b8-4669-a33b-19c7af7af6c0 CLINVAR:643861 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f29d3b56-2a28-41cb-854a-82b16455fbf9 CLINVAR:641583 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4277b4ed-e1cd-4aef-8bb1-3042f1ccab3f CLINVAR:641583 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 562b010e-5d41-4ed8-9dbf-a2c5cf3bd15d CLINVAR:639088 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 183444f5-1cf7-4529-a2be-670e119c9368 CLINVAR:639088 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2ea55b5-1edf-4a48-88ae-6bf80bab4e54 CLINVAR:576717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ad46ddc-8abc-4d64-9e30-77f92eaa3085 CLINVAR:576717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ed9054b-7e8f-4ee8-9fc2-f4cbf8ebf873 CLINVAR:573788 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d75d0196-dd63-46db-95e0-58c8d05acbbc CLINVAR:573788 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7c57b17-9d08-4115-a215-7addbdfdaec3 CLINVAR:573555 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac4a005f-08c8-4057-9eb1-38c2bc1c243c CLINVAR:573555 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8e9419b-6e0c-47d8-949c-98fd413be6f8 CLINVAR:572890 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a24adcfb-7db4-499d-a875-1e30f5dc83c5 CLINVAR:572890 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ab4d132-3496-4fce-b107-0d6dba56e5fc CLINVAR:570149 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6042f897-12ee-4450-ad63-a05ff1223f54 CLINVAR:570149 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e5e4b00-7538-4af2-8923-d9c1910c7a88 CLINVAR:532660 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4a199ab-83e0-4fde-9769-7ce882fc5c32 CLINVAR:532660 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02847bb5-1cab-426f-9b5b-2d387d1a0aa6 CLINVAR:532657 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d177e394-3132-44a5-8062-208f9f82d8cc CLINVAR:532657 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f665e89b-0f19-4eae-a00e-f820189a1e11 CLINVAR:532656 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c656e17-86be-45a6-9fb4-a26f6081067f CLINVAR:532656 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d573af7-c3bc-443a-94d4-b94f0cd065f5 CLINVAR:1678200 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6bf9826-a1d3-45a4-a954-fc22754f3348 CLINVAR:1678200 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6a9ab18-abce-47f0-b9d0-f8f65f4cb0e3 CLINVAR:626913 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da9b43dc-a470-40fd-8e8e-7608e8d411f3 CLINVAR:626913 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca62b317-da47-4883-873f-04d6413bdf66 CLINVAR:626911 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23897f84-526f-40d1-a88d-fa0838399a93 CLINVAR:626911 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 110b67a0-dd53-46de-b12e-f3adb5b85d9a CLINVAR:2146646 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f7501d2-cc9c-4a7c-b472-24f05cf8b401 CLINVAR:2146646 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57d66c6d-6dfc-4b87-b668-8ba0aef81478 CLINVAR:1959 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8fa4670d-1000-4d69-99df-fdf75fd8720b CLINVAR:1959 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac216a06-b561-441d-9ad1-fbb279c6318a CLINVAR:177778 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 326600f4-3ce8-4e1a-b672-046a7af61c01 CLINVAR:177778 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0cff7bb-e586-4b8d-9f17-d570af3b5b59 CLINVAR:1003866 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32847bdb-f540-411e-894f-c756598ec23b CLINVAR:1003866 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 808d46f2-78c1-4ba6-8c31-75ac34474f68 CLINVAR:13903 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 338fe4af-de89-4ee2-9b1a-af0956fe3109 CLINVAR:13903 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 716e4de2-1831-46eb-8fb9-6a8cbb0b898a CLINVAR:1070042 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a4992d7-9473-4723-9656-7919f0661076 CLINVAR:1070042 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3472fca7-80cc-44e2-83c1-405a8027eb93 CLINVAR:424299 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61695e03-b3d9-423e-9f74-82319ce9490e CLINVAR:424299 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 501823e9-d7d4-428d-942c-1a198cad7e79 CLINVAR:561350 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d58a58db-7bd0-4ed4-84d2-2e05d8a623ce CLINVAR:561350 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24b2b751-997d-4434-8792-9541bc3d1fcb CLINVAR:200177 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f46a3d9-28d4-4b61-94c6-ea210945d820 CLINVAR:200177 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66dbc5cc-2557-4e1d-9fa2-1a5652309c3e CLINVAR:617874 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 534f4bb7-bf2b-4227-91cc-86749dc9ed06 CLINVAR:617874 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df184c85-86f8-41a9-9da3-d00a3dc06207 CLINVAR:549173 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed6593ef-c8ff-4243-9692-16de0af580dc CLINVAR:549173 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b128a439-5d4f-4821-a3c3-ab6eb24938d1 CLINVAR:42339 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 324322e6-79ae-4d48-8d04-b951366e74e5 CLINVAR:42339 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 021a759f-4c9a-4bbc-80ca-2b474a9df954 CLINVAR:549019 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 66f89e65-12da-4b42-8c84-00d4b772e2fb CLINVAR:549019 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f88d4ccf-e2cf-496b-8a7e-8dfbbadbe6b5 CLINVAR:549180 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 81ca0c71-22d8-465f-a05e-b00fa5b9c990 CLINVAR:549180 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28e1a33e-4902-4263-bb42-04c754a9e575 CLINVAR:495598 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7fb4c4e-c6f7-4813-b3d9-44af3101e787 CLINVAR:495598 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1166a868-b5a0-4fa3-9e03-275c678190cd CLINVAR:200022 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e63cd3f3-5c97-4f9f-88bc-79786cc02e72 CLINVAR:200022 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3525d75d-4f88-437a-81c5-753060fe18c7 CLINVAR:495558 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen adf63772-3559-4934-abad-a4e563e17f25 CLINVAR:495558 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c879aba4-8fff-4ab7-8358-7a397da52fe9 CLINVAR:36034 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e83fc529-0d0d-44c1-9190-445102e6bdf9 CLINVAR:36034 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ffd7143-9586-4714-986b-3070e3e4b543 CLINVAR:164809 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 894ab767-2ada-4a3a-863f-e076f6139f73 CLINVAR:164809 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 828a41bb-08b0-4b88-9503-db12a380ed64 CLINVAR:179025 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1fc56df9-4c89-4f5f-9b58-a1188f91953d CLINVAR:179025 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03fc33b8-ee1a-4cea-b0ec-71d25c3e7a51 CLINVAR:209089 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b5dec6e-9024-49bb-a9ea-77c63bd21aa5 CLINVAR:209089 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d650f81-e2ed-48ec-8de2-551413348550 CLINVAR:2078744 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 80de2e48-17d1-41b3-945c-5e971a417805 CLINVAR:2078744 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3de8998-dd9a-4212-9c47-e146613d9758 CLINVAR:195024 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02e62262-bc08-4f7d-bb58-4a66c92c7f8c CLINVAR:195024 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78cbb654-5777-475c-b3f3-4f51db254dd1 CAID:CA414444915 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b8938d2-06bf-47e1-a171-a8459c5cbd91 CAID:CA414444915 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b70393d4-0343-43be-9e21-6e80eb655e2c CAID:CA414444922 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 965cb81a-6c62-4139-858e-2a4c499932bd CAID:CA414444922 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f5eaa8f-b00d-49b2-b49b-e89e019f7b13 CLINVAR:2138734 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f6c831e8-1931-4c54-8e0b-eea92c151762 CLINVAR:2138734 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c362b245-27c3-4db5-bdc0-081592c7c103 CLINVAR:10602 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18e14d54-5b41-4031-a320-a2c843b7914d CLINVAR:10602 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4da7604-fce1-4afc-918a-bf4b85dc14ab CLINVAR:627177 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9318d934-d47a-4c0e-9cc0-7998b40778d8 CLINVAR:627177 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1ae5d36-ddc0-4fa6-8b54-1d15af709fd1 CAID:CA410780392 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee235356-7c6d-41b9-947d-cecd20addfe6 CAID:CA410780392 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc31c356-5852-4568-8087-0e28765f7a70 CLINVAR:705680 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f8ec4cd-c686-4ae7-89a2-dea045a5f0c4 CLINVAR:705680 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 054b49b0-9c02-407b-9b0c-874af04581ff CLINVAR:973830 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51d19c03-7a92-4ba0-beb8-cd819cf9f125 CLINVAR:973830 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bf34819-83bb-49f0-92c0-3c3bc107f82f CLINVAR:898727 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 35e8e9ca-b41c-4d74-93a4-f0b03e94b158 CLINVAR:898727 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2eb42e78-e3b5-4932-8537-5b6fc84de07b CLINVAR:523986 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30341489-3b43-4f52-8400-1b4f4cf0b310 CLINVAR:523986 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40f7d0f5-2cd2-41d2-8cbb-8112a68769b1 CLINVAR:2634012 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c89e595-0a7a-448f-9250-ca9fd81010e5 CLINVAR:2634012 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dc042af-47d7-4ce1-83df-320ed7dc3531 CLINVAR:2757091 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5324345d-6a4c-4b26-b1a3-e58ef14ec503 CLINVAR:2757091 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25c3cf17-c823-40cc-b833-89976b4bc597 CLINVAR:2839740 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78cdbf40-ec97-4de6-918a-33e6774c12ff CLINVAR:2839740 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9a3797a-b52b-4ee8-866b-a0bb4442906b CLINVAR:2750881 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac37a6b6-47f0-47a4-951f-a648185b6fd2 CLINVAR:2750881 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59871d0b-fbe9-42f4-9ca3-058c82090a86 CLINVAR:2112037 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af8c6363-087b-4872-bfa6-093daca06e7b CLINVAR:2112037 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1bdaa90-e65c-4982-bc37-9009776efcc4 CLINVAR:522800 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7bd9195b-59d5-43ae-a9ef-eb2182ebcdd9 CLINVAR:522800 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9182018a-9e5a-4339-9605-1eec4336d9ad CLINVAR:522164 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0fd4336-c6a0-4d65-985a-b29038b47b71 CLINVAR:522164 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50b66055-c477-4aa6-8ed6-6068cffe552d CLINVAR:561716 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5bbca989-d901-4726-be50-6389af0f2baa CLINVAR:561716 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67d26790-6a21-4238-864b-fb021d13c847 CLINVAR:1066305 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c3697e73-4a79-4776-b379-d4f1cfc2a36e CLINVAR:1066305 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23935e13-29c5-4107-ab06-e55d83ecbc53 CLINVAR:599033 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f72d433-f8b6-4004-a104-0428b3d02acf CLINVAR:599033 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a275f843-77dc-4d0b-a1d7-15f95d471b48 CLINVAR:561683 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d25ef84-c8c7-4a5c-a2f1-ba0c2e3da33e CLINVAR:561683 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 579b3871-9a3f-48ca-9290-062af7ea8224 CLINVAR:522799 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25beb369-21c2-4d1e-8804-86d5f3ccca6e CLINVAR:522799 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c638b19f-4374-428f-b93e-00cf9f5120f5 CLINVAR:451722 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d5f33c75-29a0-4e5c-99f4-4dca2f917fd1 CLINVAR:451722 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67b809fb-c72c-4301-aeb8-fd83f24e9c0d CLINVAR:3383924 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 944c5a1a-1d28-4b53-8e68-14da42a0c58b CLINVAR:3383924 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cebdb596-ee1d-455e-b7e6-0c5de700e49c CAID:CA367400483 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2161c869-6005-4599-a39a-c913620df721 CAID:CA367400483 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f2f354a-cd77-44a8-9bc1-462df0660a5f CAID:CA367400486 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b2aff43d-5fac-423b-b51b-e45803d2c2f3 CAID:CA367400486 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 713923f6-84a6-4164-98cc-ea7275aa9c6b CLINVAR:658067 biolink:associated_with_increased_likelihood_of MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 250cfb52-e1d5-4674-8b63-713143081702 CLINVAR:658067 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbd48d93-8fe1-4e49-b9a9-353e1a1ec9d7 CLINVAR:374331 biolink:associated_with_increased_likelihood_of MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b6a94cb-12a8-446c-b133-cc2b2d6f2207 CLINVAR:374331 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d29f0447-ebe0-474b-b795-605e12c2b0e3 CLINVAR:372977 biolink:genetically_associated_with MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f4b3dc8-af10-4f66-b6b2-c005b2579422 CLINVAR:372977 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f8dba29-1ead-41c7-8e6d-9a2c296f0cc3 CLINVAR:12893 biolink:causes MONDO:0000700 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a2f0b88-bfd8-49e8-82cd-fd6184b8041b CLINVAR:12893 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ab94849-86ba-4271-868e-3659b35dca35 CLINVAR:393000 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d3a60dc-d449-4374-a5be-ee19905cd06b CLINVAR:393000 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2530044b-8b58-4c1e-9997-98b5e6ac01c6 CLINVAR:130208 biolink:genetically_associated_with MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cbced059-a8f2-43e6-b74e-026e92352daa CLINVAR:130208 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acfa6ae5-1e1e-4055-b074-c7fc190ff276 CAID:CA2695216038 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2789f457-c349-450b-9b66-2194a6213376 CAID:CA2695216038 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7de7d024-a42f-43df-b00d-2f3f5d837d26 CAID:CA383520062 biolink:associated_with_increased_likelihood_of MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8163432f-ea44-4b49-82e2-094b80a42b77 CAID:CA383520062 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90b48f3a-0561-4b5f-8f5d-61f08e56a40a CLINVAR:425863 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 33fa94df-de89-425c-bb0e-c08b2e3c7ee5 CLINVAR:425863 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b44efc0b-4ac9-4a77-bc7b-abaf6a546f52 CLINVAR:425885 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 386ad677-e083-4a09-9843-d67e61153781 CLINVAR:425885 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9809cb7b-be81-49a4-94c5-03ac4653aef6 CLINVAR:425886 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 064cb7c8-1f01-440e-b900-9bf7731135e2 CLINVAR:425886 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf59166c-1c04-461a-a19f-e663427a7b18 CLINVAR:425887 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c9841ccf-362d-44f3-9421-8cb0fcb6737f CLINVAR:425887 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 441014ab-ba2c-43dc-ba2b-05613d112e82 CLINVAR:425884 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eabf4f65-97f7-4a74-9d96-4a99229168f7 CLINVAR:425884 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9209f992-b1cd-4759-a8fc-b7543a07be30 CLINVAR:425883 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8000e791-7a55-4592-9ef1-591b80c99051 CLINVAR:425883 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6a047dc-e891-42e6-9b85-a9828e4094d2 CLINVAR:425888 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9737404f-5328-4267-94ca-c9bc2075108e CLINVAR:425888 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74bd8dbb-9d24-454b-9429-6549127fe306 CLINVAR:425889 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a62e74b4-2217-493c-842c-6353a8d621b8 CLINVAR:425889 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 393f86c9-671b-4491-ad2f-b5d7ac95f142 CLINVAR:323556 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5357e66a-8159-4c75-8365-ed2bfeda657e CLINVAR:323556 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40560cbe-e122-4367-8ef1-581a319f997d CLINVAR:888902 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aaeb1f3d-c261-4ce4-a22f-48498df011bf CLINVAR:888902 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1b2f864-b643-4ed7-836d-d2a2408f3af7 CLINVAR:1698808 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eeb69b73-7b5c-4e06-9b0b-21f3d411df7d CLINVAR:1698808 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c8b67a8-6b66-4a3c-b1a0-c1b68e3edd94 CLINVAR:477043 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 182e7d66-25e5-4803-8240-821da6d0bfde CLINVAR:477043 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aa0fbe1-17ed-4d8d-ad8a-0373f2d2175f CLINVAR:254293 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4583b834-4480-417a-bdca-202d3c4adcc2 CLINVAR:254293 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93b2f203-6923-4111-849b-19c75af0cc79 CLINVAR:664199 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2f92b29-33d0-4dc8-a8ca-d3a790570889 CLINVAR:664199 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3245e9a-6d61-43a1-9a01-7b20d340f45a CLINVAR:339882 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7b2252a-b61d-461b-b8db-b04fbb4bfb0d CLINVAR:339882 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45bddbe6-288e-4549-b3b8-2f93db1933a1 CLINVAR:339813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eeab389b-65f0-4c5d-9829-72e8ffdde118 CLINVAR:339813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 010dd967-e70d-4b1d-a664-0ed65ec45899 CLINVAR:897695 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21b0c87e-a8d6-4f89-86cd-40b603ba45b9 CLINVAR:897695 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4740a22-5d45-4b78-bdbc-083af3dc1e27 CLINVAR:1040892 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3cd24bff-c6b9-4e9d-8ba1-b21a976e5c13 CLINVAR:1040892 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec60db73-c646-4007-a753-f43b282ac4bd CLINVAR:2728565 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d3c7232-8c61-4fa6-8cce-fd46ba14004c CLINVAR:2728565 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0313e99d-ca55-4305-8882-e9b98a04828e CLINVAR:964321 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 984c134b-90ea-45f9-a27d-b85a2bd25d10 CLINVAR:964321 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7480f052-a0c4-4c93-bd82-133936d8ac2d CLINVAR:2419700 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eec4346d-37d2-446e-974f-13a0493b7cce CLINVAR:2419700 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e14843db-5430-4546-8313-4e50c9831461 CLINVAR:857804 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 691fb584-9298-4f6a-b442-1efd92e026e5 CLINVAR:857804 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 832ab15d-95c1-4e13-91ea-cefc873ff470 CLINVAR:970259 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd50eefe-ee20-41c8-b1f1-f6cfc2f82f74 CLINVAR:970259 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e45f2ff-c08d-4763-ad71-1ff1d2be9057 CLINVAR:988867 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 745b2ba6-3b83-41b4-b620-32b4352e9911 CLINVAR:988867 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c2031fa-292d-46dd-83a7-d7f415ced2da CLINVAR:840865 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d4df40f-3853-4fdc-9ff1-d0f0f4dffdf2 CLINVAR:840865 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16b33fba-c893-4616-a976-09d6c512cd14 CLINVAR:409817 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ce4dc3e-0796-4c9b-9e3e-6974ec87da16 CLINVAR:409817 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00ba25ef-3807-4080-873d-029b18b0773d CLINVAR:2728942 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a1e8550-143f-4291-879b-d397e380a91e CLINVAR:2728942 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc845b00-356c-4dad-8e08-1dde2382b506 CLINVAR:2678491 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cba80dcc-82e1-433e-b441-dd6df3bd7cc7 CLINVAR:2678491 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5c6651b-1546-4270-9655-dfb3314e42de CLINVAR:856836 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e178fff-b508-4c38-a68e-00a1045a6715 CLINVAR:856836 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d98df130-a9e1-4fbb-9209-543d5e730f68 CLINVAR:1037898 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ab65ac0-0346-4e00-abc1-92bf8b8b24b3 CLINVAR:1037898 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bb6afdd-2985-4d37-b0ec-b236ca4ffdc1 CLINVAR:1447557 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd928058-f982-4cdf-b573-cd1966719981 CLINVAR:1447557 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80ec6d5f-c73b-4147-85c1-aed76286a07a CLINVAR:2154408 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec60fa4b-a8c7-4573-b11c-ba29b5f903bf CLINVAR:2154408 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1f67a0f-8191-43c7-8414-851cabdac7e9 CLINVAR:463998 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a47cc9c-284c-4968-b4e1-00cfcea3376b CLINVAR:463998 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aec7fec2-c718-42f0-8b94-a0b41620dc8f CLINVAR:409821 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f46604f-2f2d-4564-8b2c-e61d402e1c09 CLINVAR:409821 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf590da7-1c74-4cd8-af4c-46f4bb82d9ca CLINVAR:2045031 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65701ac6-3ab4-4fdc-b611-896094354c4b CLINVAR:2045031 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9a6deec-4df7-4271-a5f8-8b00121c3cf6 CLINVAR:409807 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 059391d5-6515-4f81-98f6-ce9d46e0a332 CLINVAR:409807 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 519b6bd8-d484-4cf7-b465-3945a93bab4c CLINVAR:1346335 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15b2f60a-3291-4569-b8b4-647bb1d44f98 CLINVAR:1346335 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e57eeac4-4365-4fa2-a265-99040d02d045 CLINVAR:1410456 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1e0b267-c622-4158-bf47-c576694ffbb4 CLINVAR:1410456 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84652bd5-90a5-4354-9f9a-5edbe1577a96 CLINVAR:2116456 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b54434c7-421f-49a6-a6da-3a09c2c969d7 CLINVAR:2116456 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c359b4ec-8b5f-4932-b7ac-038ad1beaba6 CLINVAR:2003023 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d8ea1b1-83fc-4247-88f3-a56b534b700e CLINVAR:2003023 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c239eda-2516-46ae-9557-32873d0b224e CLINVAR:339880 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7aac1853-6483-4f26-8b15-f11d706a2191 CLINVAR:339880 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d54d0e9-98b7-40ef-9b56-56949af3f5e2 CLINVAR:895826 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed4c13c3-3851-467e-90a9-3fff4d5991d4 CLINVAR:895826 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b53b5463-5dfa-4895-9720-3f0f48df21c9 CLINVAR:339847 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45d38617-176a-43c9-9def-f7fc8e925104 CLINVAR:339847 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 032114a1-a132-4ab5-b57c-039e882696f2 CLINVAR:898860 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c974e7ab-30ca-42c1-bef1-4601d36e38bd CLINVAR:898860 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86f01786-687b-45bf-a663-820ceafe94ba CLINVAR:339834 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c35ec227-f318-49c9-bc43-dbc062b19d53 CLINVAR:339834 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dbb735c-9074-42e0-a2f1-7768be5df42a CLINVAR:896042 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93b7b28a-86e4-43d6-a656-0f98cc7e048e CLINVAR:896042 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9a0c08a-2422-46b7-8f02-e2330c824fab CLINVAR:339814 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59c0c132-bc0c-4cc9-ad87-b153f954d1e6 CLINVAR:339814 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bed232d8-127f-422b-b69c-4e13d738fcea CLINVAR:897697 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f68a134-5578-49af-964c-741a0d318299 CLINVAR:897697 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7c92ee4-110e-4585-adb8-ee7202db82f2 CLINVAR:897570 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f37632ca-0238-401a-8242-d6b565099078 CLINVAR:897570 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1c3e91c-538d-4d54-8806-e7ef2ec7cea9 CLINVAR:897093 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4475eb8d-626b-42fd-a1c6-d0ecfc5ac348 CLINVAR:897093 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e9d0aab-1797-4d63-91a5-3b01703f81e3 CLINVAR:339861 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6524f0dc-dd4c-43e8-87b2-068d88b40ff3 CLINVAR:339861 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6efa104e-eb5e-4756-8d75-72328b7255c2 CLINVAR:965008 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7fae5f6c-3ee8-4c58-a16e-e359429fa0e0 CLINVAR:965008 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9877750-4635-4b8d-8b87-1cedee1b936a CLINVAR:1022964 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5d67237-12b8-4729-bbe1-c1ebf2dcaaa1 CLINVAR:1022964 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 739124bc-859e-4d66-b5c3-f226f492697d CLINVAR:934759 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a8abb8c-3ce0-41bf-bf1b-9d1151fa79b5 CLINVAR:934759 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e301b6a7-8a9a-4761-b4ae-0c1ff2ac8008 CLINVAR:417952 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1df2a42-cdd4-4571-abda-88d7a865d93e CLINVAR:417952 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08d5f9d7-8e3e-4e33-be48-da6b8cbcda59 CLINVAR:316212 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18c593e0-6b0c-43f0-b8c9-89aa264f3db4 CLINVAR:316212 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7f6c03e-e986-486c-9a4a-3b1873d70959 CLINVAR:449185 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d95d2d12-3fbb-4f3c-a35c-63de545c3373 CLINVAR:449185 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6855247-415b-4f5e-900e-e6b294d0c3e9 CLINVAR:588254 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc54300d-9f2c-4b4c-ac0b-40567860eae6 CLINVAR:588254 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 166e8eae-c103-4b75-b32d-c1e16f673fa7 CLINVAR:2181706 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e5f72b4-67ef-4b41-a35f-e42f2798f0b4 CLINVAR:2181706 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0707e4da-be06-4425-99fe-89c97ee234fd CLINVAR:1562414 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a14e873-5a96-4ce3-92e9-d19648cf651c CLINVAR:1562414 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61b9fcf0-352b-4abb-883f-e73fb5815a07 CLINVAR:511341 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0de9fdb0-b3d8-4c96-9467-ddc728ad3ccf CLINVAR:511341 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cc04f95-a63a-4d66-b4ea-8853922f2bb4 CLINVAR:917570 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33a17c57-bc23-4cc8-81d2-d7b6689631b7 CLINVAR:917570 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3f64bb7-f8b5-4527-9d15-120e4a966493 CLINVAR:1676188 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 174abf87-a2f6-483a-9e63-732e74918afe CLINVAR:1676188 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74758d20-8a00-40a3-b6e9-bf401f12aea6 CLINVAR:9679 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e81be798-0b7b-4ab3-b8e0-71b2ea1488cf CLINVAR:9679 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84e32479-83d6-4e09-919f-fb25c067fdf1 CLINVAR:9681 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 911d99b9-256a-492f-b338-3b99fc197275 CLINVAR:9681 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 051eee43-2d3b-435c-9200-0be025afbdd6 CLINVAR:382591 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81b6be34-ee4a-475e-abc9-1ec248934b99 CLINVAR:382591 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2728f5bf-43d7-447c-a3cf-d2e0b37f521d CLINVAR:9662 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c06d7cfa-d17e-41e9-ab70-f3c9e7e9780b CLINVAR:9662 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89f09233-b012-4d6e-bd8b-f98f9a19baf3 CLINVAR:995600 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe002963-3e24-4ae7-8210-e82a62108c15 CLINVAR:995600 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8de0618c-a2e1-4c7f-90e6-5832f0915424 CAID:CA16020765 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d76823f-8d1b-4a97-b4d7-858925c86256 CAID:CA16020765 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d2c4397-58a8-4ba9-b476-e61e41d71953 CLINVAR:102683 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc967416-1e34-421b-be83-ffa4d98090d6 CLINVAR:102683 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00f80c6a-60c9-4064-b7c6-d6c740ac453d CLINVAR:102682 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0db18125-585e-4db1-8be0-61cf89925905 CLINVAR:102682 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b990e11-7395-4ace-94b8-217343c90033 CLINVAR:102636 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 687ecd1f-5a61-4ef3-8c98-d9a013755db0 CLINVAR:102636 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b8ab6ad-806a-4134-b1dd-8375c229c656 CLINVAR:102637 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c1447af-d52a-4577-8856-eb92f9fa63e4 CLINVAR:102637 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1357a66c-4596-47c6-95ac-398bdb882a8d CAID:CA16020793 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2140fa97-1c44-42b5-b325-f7f9638b2964 CAID:CA16020793 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56ae302b-4c9c-4350-bf10-b9075d62e9f6 CAID:CA386296891 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c6a4421-e3d5-44b9-b94d-6bcd66849517 CAID:CA386296891 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d63d06a7-0a14-4cd4-8cad-e01744ff4cf1 CLINVAR:102695 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd232963-5e81-445e-849c-b9ba66e869fc CLINVAR:102695 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 309942f9-fa7c-490d-9080-d1c8ace2b6ce CLINVAR:134528 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8f9d2d8-5468-4367-ae4d-297f876d15dc CLINVAR:134528 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83adb550-0ce0-467b-8285-acc09ded4ae6 CLINVAR:9658 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1c03987-7138-4594-8868-660188dabb0c CLINVAR:9658 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6865603c-93f1-4e67-a4a6-f75053236d3f CLINVAR:9665 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c5888f9-6d55-4017-a16d-4dc0ec0c41c4 CLINVAR:9665 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30cf6b4f-c013-4433-bb08-4ac56cd63f5f CLINVAR:430687 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dfa6ac48-538a-432c-ba4e-27a3f97718b4 CLINVAR:430687 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60a1fc8b-f419-4ee4-b47a-646cb8a127b1 CLINVAR:9599 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 776a05f2-6f1e-41f6-9fb5-273a739ed0f8 CLINVAR:9587 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49b64e01-6b28-4b0e-bb86-4ff1452d7d72 CLINVAR:9587 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32f8ba9a-9f2c-45b6-828e-03f75cde6824 CLINVAR:9595 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f93a1e79-f066-49b1-bf4b-e00cd9729eac CLINVAR:9595 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 905a14b6-c2da-472a-af00-9da844834883 CLINVAR:689861 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15ae9ddc-3ae5-41c9-82f1-df2d93ba7802 CLINVAR:689861 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 751c347f-cedb-464d-b8b2-0de79c87b57f CLINVAR:689895 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 074d47d3-e7eb-4318-8751-d59405f9e28b CLINVAR:689895 biolink:is_sequence_variant_of HGNC:7495 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6632df5-7b74-4a0e-9b59-51131dedff3c CLINVAR:692361 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99339d5b-dbe5-4dd8-a9d4-6e4692adad87 CLINVAR:692361 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1162d80-5efd-4a72-ade3-bc8f769a0367 CLINVAR:812543 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b89166e1-426d-43d2-afe6-9930e43850fd CLINVAR:812543 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cf2d047-cd23-42b3-bc27-964c5ad8351f CLINVAR:9216 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 32d7a365-30ba-44d5-92d6-8e3d1af10a63 CLINVAR:9216 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9f9332a-e53f-4082-a86c-948a85f6cb21 CLINVAR:2580875 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a59e6ec-61a2-4995-a5ff-3eff1b0ab083 CLINVAR:2580875 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4fcef07-5867-4e07-a610-79edab77fcf1 CLINVAR:558316 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 42f10f8e-20d9-46ec-924d-9d859aeaf45e CLINVAR:558316 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a686f3a9-0169-4764-a86e-fe116432e30a CLINVAR:444626 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a5590c8-78e7-4edd-b6e8-d007191d3241 CLINVAR:444626 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54e80df6-0fe3-46ca-9497-c296933a0d7b CLINVAR:92644 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4d7c047-e06e-43ff-83d4-09a219b5bb68 CLINVAR:92644 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d6283f0-2d2a-49eb-ba66-00bb4a474e8b CAID:CA2573332224 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4444e92b-75b1-4d5a-84dd-6cd4c10cad8f CAID:CA2573332224 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22fa23bf-2699-4ef3-b6ee-f55d169ec721 CLINVAR:2704858 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7e91be8-0631-4550-a168-4d0dfd4f89b9 CLINVAR:2704858 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d484d28-6a3f-4a67-95ab-ebeba8cc5353 CLINVAR:1323099 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 477233bc-0221-463b-ba37-1e80091ae741 CLINVAR:1323099 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83e614ae-7930-4615-8356-cafcae8768f5 CLINVAR:92636 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 85a71156-91bc-4fd5-9133-6b2494091dcb CLINVAR:92636 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53b68450-0ee3-4dda-8e85-19c90ced98af CLINVAR:1323098 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ebe5395-e923-43bd-974a-fd59c9bb8f5c CLINVAR:1323098 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe167175-f1ae-4b97-a692-32fc6659b370 CLINVAR:638074 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f730c255-7624-4536-97e4-6f58d3316cb4 CLINVAR:638074 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6591825d-f1b0-4c9f-829b-acc0f98f9463 CLINVAR:828094 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1921d78f-d67b-4de5-b36f-496a2c4956b5 CLINVAR:828094 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e02288d-8538-4c16-9e35-febc976fff6d CLINVAR:193061 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b540f51-e804-4680-8cdf-4dad6a929af4 CLINVAR:193061 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfcf1960-2be2-48c0-ac36-a2d7355f8016 CLINVAR:222994 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 403daa0b-5a8b-4010-b848-44e294a82fd5 CLINVAR:222994 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53bd2b6b-ab20-4fae-a257-92d3b169a96d CLINVAR:92643 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98d68826-4d21-40fb-acaf-df5e8775d1b6 CLINVAR:92643 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ac48059-e6c8-43f4-a724-273a0e410f29 CLINVAR:557616 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66d3ed02-0a04-43d9-96bf-699eb88e6770 CLINVAR:557616 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 624c62bb-85a1-4cda-b7ca-9dd40d1ae87d CLINVAR:1406350 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d471a05-f81f-44d1-9ac1-7bb95f8a4f37 CLINVAR:1406350 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c82e6045-e103-4871-8fff-9aa1db53e04e CLINVAR:1968567 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4aa12558-387d-4db1-bd31-f3e79af57cf6 CLINVAR:1968567 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5efd72da-14b5-47d9-90e8-e6c3d80c062c CLINVAR:905912 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b59d480-add3-4a8d-b128-bb5396df1be1 CLINVAR:905912 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 211df11f-dacc-42e0-8a42-229b695d8fd3 CLINVAR:1309246 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0fc0e81-73ec-4f93-89a6-316f9e4aba6c CLINVAR:1309246 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4f45910-c8fe-4607-ad76-33b716fc9a02 CLINVAR:967585 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f9f9f22-f7ce-49cf-8cbc-6b93780fb24c CLINVAR:967585 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e84afc49-d216-4c99-a09d-14a2ecae6ce6 CLINVAR:1384361 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d02b7290-733a-4cb6-be50-13ea05472693 CLINVAR:1384361 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c0efbf7-9522-439d-8968-b5427460389d CLINVAR:1458769 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a087095-5e1b-43bf-961e-93ca8239de3a CLINVAR:1458769 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d542d2cd-324b-4385-860a-c53f0f096f99 CLINVAR:557260 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1036bfc5-618f-4c23-ae5e-0615408d5f17 CLINVAR:557260 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ed6c33d-5dd1-436e-9815-a5f85cd2a9b6 CLINVAR:1455223 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 051e9e26-cc06-4ee5-b987-443f064b50dc CLINVAR:1455223 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bac7aee9-ae6b-4f0d-9b76-b678fb5cc074 CLINVAR:11920 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 286f297e-3806-4944-97f7-edb6d184d006 CLINVAR:11920 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5f8e0e7-7403-44d8-bba9-1e1ce50af3e3 CLINVAR:551675 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0172b03e-8ce8-4cdf-ad6f-968596427d3b CLINVAR:551675 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 391df28d-46a5-4012-9c67-0ecd3b522800 CLINVAR:2198440 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c799d8a-6939-4cb3-b4fe-fa74c2565d81 CLINVAR:2198440 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a74f9c2-7d19-4f38-b984-afeb11a28439 CLINVAR:557205 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c96ccf61-a640-4172-a89f-c75a6bf95e24 CLINVAR:557205 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7f8a4d1-8f50-4562-85ba-ec4e7c06c338 CLINVAR:183099 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7659959b-93a2-445c-8d65-f9318184f600 CLINVAR:183099 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7442dd58-3775-4a85-bcf6-b8baa044a155 CLINVAR:450684 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ba8d3fe-0241-4a55-9232-8895e24e24cf CLINVAR:450684 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f377da9-f17f-46ba-8624-8104154863ee CLINVAR:251487 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ff83a38-a425-45f1-afe0-77ad59a2bdf2 CLINVAR:251487 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6fbd20e-c00d-433e-9d19-6815cb41428f CLINVAR:18286 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1369fc75-f3b1-4711-bf1b-a02dd24d8749 CLINVAR:18286 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dd25bd5-2eb1-44f8-8b3c-16bef67981b2 CLINVAR:464113 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen afeebdf8-f38a-413c-9312-618037f3609d CLINVAR:464113 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d25e7584-da37-4ee1-80ee-c982e1d67389 CLINVAR:1303122 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 974ee6c7-ed7e-4ee5-9eb4-b7b5dda822e8 CLINVAR:1303122 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70334a59-ad98-4747-81f2-dbc9f27dbde7 CAID:CA345144077 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d985fd56-88e8-42d8-af93-dd5102d91f51 CAID:CA345144077 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b905b47c-53a8-487f-bff9-8dc9b6a36342 CLINVAR:835545 biolink:genetically_associated_with MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb1b04e9-6b25-45eb-a9cc-cc072aa60c3b CLINVAR:835545 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f29631ba-6048-477b-b58d-8fa086898e9e CLINVAR:1051987 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen da99041a-7b83-4da2-b4cd-f85d9e17c748 CLINVAR:1051987 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0dae115-f739-4417-820e-9f2544f76e14 CLINVAR:127188 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1cc69a8e-5989-4cff-8a72-592dee69dc7b CLINVAR:127188 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ae95a82-6b09-4d01-93d7-f811f7704622 CLINVAR:1034583 biolink:genetically_associated_with MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e24ec24e-4480-4f9e-bd0e-00e5976320fd CLINVAR:1034583 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a24036c-b052-4c31-9361-c18ef7e88769 CLINVAR:3391411 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b256946b-5565-4865-8839-910f04fe5f5a CLINVAR:3391411 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1ae7bb0-f075-40fc-8dfe-384f51724ea2 CAID:CA8603165 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f24d6b47-dbd8-4c91-b194-9d5bf08a2b1b CAID:CA8603165 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97065945-913c-4e07-a00b-881f503a6f9a CAID:CA399804710 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen faf69436-8aac-4baa-82e4-fd3cd24de071 CAID:CA399804710 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf649ae4-6f42-4fd4-ad5b-29fc9e39a338 CAID:CA500262444 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 699fa8be-68c2-45e7-93c7-6ac42178a7ed CAID:CA500262444 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d44258b9-2e3c-4199-871d-b77265d5d330 CLINVAR:9734 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c41a1b99-2b5f-477b-b7b5-454dd66badda CLINVAR:9734 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ef59eb9-2201-4de4-ada3-7f92e189269e CLINVAR:9735 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8bccc49-d7f9-4133-a527-811b39b19ab8 CLINVAR:9735 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 388fa606-b6b0-447e-82ad-56cdbef5fc16 CLINVAR:155880 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12c0afed-bbab-4d97-aa38-57554b85316a CLINVAR:155880 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e32a0ddd-8860-4670-8fac-c63032d09221 CLINVAR:800504 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 484d07f5-94ef-4fac-8d9d-85cb8741137a CLINVAR:800504 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a70dc136-c554-42bc-84ce-cabda053bac0 CLINVAR:155887 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a09462cb-a6f7-44ec-9168-45257c65012d CLINVAR:155887 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5abeef94-c971-4b6d-9f97-e854544d7c4e CLINVAR:9706 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 607d4f6a-74cb-4f1e-88bc-0a81ca87feea CLINVAR:9706 biolink:is_sequence_variant_of HGNC:7460 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8542fc05-84b3-4eb5-a36b-8510f80029ba CLINVAR:9660 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 690fd831-ad0e-4d3b-a992-4bd7f9197e79 CLINVAR:9660 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94589685-4e1d-4267-978a-973f14c62b78 CLINVAR:3774391 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a54a205-33fd-40d4-8478-672384b9fa73 CLINVAR:3774391 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1c5ec2c-5c97-4f36-9093-6052f42c2223 CLINVAR:9671 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f97c34f-5135-4aa8-bc9c-10242ff00081 CLINVAR:9671 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad177086-a3e8-4310-afb9-d61e31bd3c70 CLINVAR:9561 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3e5db31-1885-4d2c-acec-6b3915c81fc1 CLINVAR:9561 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c52bc42c-9ef7-450c-8462-45f84ce8798a CLINVAR:1802530 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ecdb52f0-3758-44d2-9648-1f9d4949df44 CLINVAR:1802530 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfa34292-fe19-42f2-bd04-d50005fe12b8 CLINVAR:994542 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46fd74d5-690d-4766-b8a6-c951549c9861 CLINVAR:994542 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fde91494-3a2a-4e02-a230-eb671227aef0 CAID:CA386972790 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9fca407-830d-410e-b4da-bb2c10f94ac5 CAID:CA386972790 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e423c9f0-8e81-4c06-9275-79c539120e25 CAID:CA386966029 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2cd7bdef-5da7-406b-aabb-06c0f649ffed CAID:CA386966029 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2b50797-6863-49b4-9c8b-5b996136a044 CAID:CA386966026 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab4be137-d288-487c-aea0-2ddb596f0047 CAID:CA386966026 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4b9cff6-5acd-4b57-9665-01bbd09bd050 CLINVAR:2758582 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a55905ae-9ad2-4632-ab00-917c019c15f2 CLINVAR:2758582 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86cb6324-5508-476b-8a74-d93e05c0acb8 CAID:CA1310372689 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07f9990e-a326-4dac-841e-2986ff0b966d CAID:CA1310372689 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c25629a7-4959-4a81-a37c-c7f0d9316f2d CLINVAR:1700663 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54b3baee-9ae3-4d73-805c-a4e06a46bf89 CLINVAR:1700663 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5af82755-8b0a-4796-a0b9-4079731cfbe5 CAID:CA409108558 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de46f2a3-0bfe-475a-a6dd-afd452a3ed73 CAID:CA409108558 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c047c113-3f11-4fdc-a14d-3a80e575d8fd CLINVAR:143710 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 546bc86a-0c5f-44b8-92ec-243f55738681 CLINVAR:143710 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0447bd8c-d7cb-4a63-b420-024a1368ad6b CLINVAR:252226 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96f323f1-bbe4-4350-b6d3-80c2f5038a41 CLINVAR:252226 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1834c0d3-f93e-41b7-8a5c-23cdf3cfc1be CLINVAR:252227 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cdea033f-79c8-457d-becb-4c59496305d1 CLINVAR:252227 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3394ec28-b3bd-4285-b1a0-007bbcad5f80 CLINVAR:251118 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8641c454-2b7c-4b5b-af7e-4bc8e096ed81 CLINVAR:251118 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aa35263-adcf-4221-a715-5a8b1d8ac345 CLINVAR:251119 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58becde4-3c0e-43d7-b4f3-0d6c719c1296 CLINVAR:251119 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd704c1b-b5a6-4548-86a6-5d9559ace2de CLINVAR:889190 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7dc3eb54-2083-46f9-a74f-d12cbc8567d9 CLINVAR:889190 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73f5f3d5-f51e-45ae-9636-fca7be0f96a9 CLINVAR:920443 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen acef6944-800f-4d15-82ee-fe37379580fd CLINVAR:920443 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30b7f12e-f3bd-488f-9014-b6ca2e559157 CLINVAR:251909 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98fa84a5-7009-4515-ac85-a3eb7b12928a CLINVAR:251909 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07f4bca7-389e-4718-b257-641047ff53a4 CLINVAR:987818 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 12369b8b-0e4f-48fe-8672-949958fb367b CLINVAR:987818 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d81962a-cc00-470b-ac4d-f0bf8f0e16e3 CAID:CA409108532 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3277886d-32ab-42d2-a06e-1459106124db CAID:CA409108532 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7de43ed3-8498-4b14-9bd0-26161932c846 CAID:CA2573106208 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d4de710f-c3b3-4bce-b316-4c33a4731196 CAID:CA2573106208 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33424d68-6acc-4d75-8b73-16304a28b1ae CAID:CA4239711 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f0185ec8-7123-4ef9-b378-2e363215212f CAID:CA4239711 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9364a46-c7b8-4edc-adb9-07721d6cc8f0 CAID:CA367400485 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b5754424-25e5-4bb6-852c-a8382d77a676 CAID:CA367400485 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6f5891e-39a1-41f8-bc81-32bc2affe50d CAID:CA367402020 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3786e8ac-580d-46c5-ad49-dfa908ee8d58 CAID:CA367402020 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3daa4fbe-22e6-46bb-b87b-2d9e733be4e8 CAID:CA367403047 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77d97c55-0b99-4be8-a095-1cb3f332ab08 CAID:CA367403047 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10bcac78-482a-4bbb-ac06-ef312afa5257 CAID:CA367403045 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cfc17729-bd8e-4a22-8257-bb4da2f30263 CAID:CA367403045 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10cca301-f30c-4937-aaa0-b9bfa9cdda27 CAID:CA367403035 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91aafce8-fa96-4770-930f-b6e95b5c0eb6 CAID:CA367403035 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df8832ff-10e7-443d-919e-7797637ef97b CLINVAR:2500039 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b40f0934-719f-47ca-ad9e-12d357363d52 CLINVAR:2500039 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84f39139-da01-45eb-8ca8-b0c64da1bd11 CAID:CA367403041 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 89965940-5cd5-4b4e-9985-cd03604645f6 CAID:CA367403041 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7392431b-94c0-419c-9837-0361d4e904ed CAID:CA367401329 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f3615a6-0f9a-48e8-be7e-b8256a119a12 CAID:CA367401329 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3556670e-58f5-4753-93d9-e47a0adf9010 CLINVAR:447385 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6279a143-bcc0-42bf-b515-5f9d657df763 CLINVAR:447385 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7813053-0c0e-40e6-9124-58251a8d9743 CLINVAR:3383915 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af581c95-cead-4d48-a922-49502fd2de23 CLINVAR:3383915 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0797e30-8e5e-4f03-9a1d-1cc53d037447 CLINVAR:36175 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17556f11-73ad-4920-a5bf-a934337f1cd1 CLINVAR:36175 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 242ce8c5-0579-4ad8-9237-ce93460b51a2 CAID:CA367401225 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69876bc0-dbe6-4bf0-a5e9-b3824e92efed CAID:CA367401225 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5156a891-65b5-4c8a-a72a-96f320ac3ed3 CAID:CA367401223 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06e99a99-ea91-4bdd-ab60-629e5c2227c6 CAID:CA367401223 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6fcc2a6-e3ae-4b4d-a714-52f61c315862 CAID:CA367401222 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4442bcb-a7f0-4798-b2ee-27edf979638f CAID:CA367401222 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bea368e3-a20a-4118-970d-ec0daf28496a CAID:CA367401656 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d2bf01c-c5b2-4f2a-b2e8-0ccf3486db55 CAID:CA367401656 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de608eac-ff36-4fce-af38-3bdc24597594 CAID:CA367401662 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0297360c-6662-4bd0-9dda-c4bb4a9dd8ee CAID:CA367401662 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 946612a6-cf92-40dd-9fb8-d42e361dc8c0 CAID:CA367399044 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd8a18ba-60bd-49a4-a00f-2cb4dcfd518f CAID:CA367399044 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c838a9a-7811-454a-8ced-92e3e2d07907 CAID:CA367399038 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8db3ad28-0159-4fde-8846-f19397c968f1 CAID:CA367399038 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aab77b9-b876-48a0-9fe8-ade938bb739f CLINVAR:311 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ee7b62e-c483-4406-be58-3b746386e5ff CLINVAR:311 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b52734e-83a0-4b3f-afc1-8796ff2aab8c CLINVAR:100330 biolink:causes MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c7a43c3-7d53-4f27-a255-b6a7afe78c4e CLINVAR:100330 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 464d9002-fe0f-490a-b930-f90cdafb7e28 CLINVAR:100177 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bd533478-6a80-46d8-a5fe-669aa27f6d09 CLINVAR:100177 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f212d8b-3ca1-4dd2-8fb3-0f330422ea28 CLINVAR:100281 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c12b9da0-f8d9-4325-9d5f-05d0daf372f1 CLINVAR:100281 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b062856-3709-4eba-8b06-31d6c7fd4906 CLINVAR:11500 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e57eea10-5aed-4679-905e-53c11721fdf0 CLINVAR:11500 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c614d8f7-1436-4536-9946-4f5175329133 CLINVAR:9572 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c108f244-242a-48a9-b078-404cc267c01a CLINVAR:9572 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee9c29c7-a754-4fa0-b5ab-12d1f35496ec CLINVAR:155882 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb2ec491-dc0f-4026-8d3f-21a1857deb99 CLINVAR:155882 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ea1b737-6fe1-4a4d-ba29-3b1a6d7f218c CLINVAR:36342 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c91beba0-6aa7-4857-b95e-99fc795eaed6 CLINVAR:36342 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c78de31-f797-4691-937a-34487a176c88 CLINVAR:9557 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 907be717-61e0-43ee-a5b8-30ae3b59de92 CLINVAR:9557 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3336efd4-2132-48bf-bd88-19b9ef879d3d CLINVAR:188785 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ce492da-98a9-4b06-bf1f-f6ce6cd5f8af CLINVAR:188785 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6233a7a-5496-45b2-92ef-9810657cdfea CLINVAR:972798 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 555be7ef-1352-45dc-99d0-eeee753ea76b CLINVAR:972798 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75c1ccaa-a6bd-45ca-b847-cd81f4c4704a CLINVAR:3390364 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef4fd7f4-0507-479e-85c8-8be8d813f358 CLINVAR:3390364 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbe43d0b-08e7-470f-8da7-6bd33ddab7ba CAID:CA414915806 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f98f5314-a10a-4ae0-8cd6-028d504bb9a3 CAID:CA414915806 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f310098-a97c-4914-a991-440aa57cde86 CAID:CA414916092 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8179ac9b-8ffc-47b4-9998-a60919eb4deb CAID:CA414916092 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c46a505-1e0f-47d9-9872-ddf6d80bc5fa CLINVAR:627143 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 956bfe81-64f4-471f-877d-c410d757e5b1 CLINVAR:627143 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1772ec6a-5a0f-4a84-8c4e-5f576bf0aaf2 CLINVAR:225114 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc82be20-fc4c-4f1a-9c74-cb21f21ae3e6 CLINVAR:225114 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69a52a8e-e048-4394-a5c0-b9c4bcd9effb CAID:CA414917900 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ef893eb-4352-4b56-b92b-100ae6be5394 CAID:CA414917900 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c510973f-be9a-4465-9c1f-c9bd5ae94934 CLINVAR:798429 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d719c66-7b27-429f-aa8e-5fc4e846d233 CLINVAR:798429 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 643b909a-8b28-4f92-962a-36d9ed4b818c CLINVAR:30005 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f056bb81-03d4-4bc2-8294-4fc73fd080c6 CLINVAR:30005 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6452fe89-8ce6-4990-9295-d31694d0c8bd CLINVAR:586011 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e151376-fef5-4fc9-985c-c421aa314cfa CLINVAR:586011 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b20f4c7d-7ecc-43de-bcd6-73c151fcabfe CAID:CA409110117 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87084d8b-2598-481c-9089-867df2cd1afe CAID:CA409110117 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 246dbcce-1440-41fc-b58a-22e253723bad CLINVAR:251736 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3e340cbe-b24f-4e2d-90f0-213d735ff758 CLINVAR:251736 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ff4ce48-8bbd-448f-9929-745ddc4c8cb2 CLINVAR:251479 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8092c257-76be-4441-8981-7081888ae2b5 CLINVAR:251479 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 857266fd-1abd-49d7-b748-d2dba2a9619e CLINVAR:9550 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10badc35-ecbc-45d8-a07b-06d2319ce130 CLINVAR:9550 biolink:is_sequence_variant_of HGNC:7502 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e655d05-d174-4bd8-aeef-311ad5ce477b CLINVAR:40158 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c66920ff-eec0-4b56-8118-ab3760787d59 CLINVAR:40158 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83b435ce-eb78-411d-beb2-3d92c03b57b7 CLINVAR:9568 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf4defa0-6153-46a9-bc88-1e6437762992 CLINVAR:9568 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7cace56-3ff3-4d82-bbff-db7236878152 CLINVAR:631469 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4105cc79-99fe-4259-b2be-e63ffc8b18a0 CLINVAR:631469 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f15699d7-f11e-41a7-b584-27ff6bfeca39 CLINVAR:689913 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ea7a841-8505-4ec6-918b-0d7a68c9019b CLINVAR:689913 biolink:is_sequence_variant_of HGNC:7492 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 683c8d96-95e3-4ee1-89e3-8035d8f9b925 CLINVAR:692466 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a87c5805-e4df-4284-b921-e5f5dd7c7f85 CLINVAR:692466 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b33e0c6-53b1-4a0f-84a3-7c032f2e5c25 CLINVAR:439962 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e0f79ff-38a2-4209-9649-3662e2844ee3 CLINVAR:439962 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63503f0d-09bc-4d4a-a4f8-8400d9de1a5d CLINVAR:692585 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2cc41de8-d20e-476b-a553-90ecd63fdf72 CLINVAR:692585 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55dff048-100d-4a68-b44c-a5bab34fc84d CLINVAR:9656 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24c78b02-9c70-424b-a384-25cd8e8bd615 CLINVAR:9656 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cddf0102-1536-4398-89a8-812abbfa0705 CLINVAR:370050 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98d52ff9-0c00-4b0e-b44d-1136f31d8252 CLINVAR:370050 biolink:is_sequence_variant_of HGNC:7415 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f58a47a-e00e-431b-90c7-5c70fefd6106 CLINVAR:692961 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03e08fe6-35fa-4f1b-891c-7799851d1cf6 CLINVAR:692961 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c27c2d8d-403a-4876-a292-2d8fe236f7ad CLINVAR:551295 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e87ea62f-69e0-4a24-a54a-7302b5b1d3fa CLINVAR:551295 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fb0c2c8-fc42-4060-89ae-803b1c9d4d17 CLINVAR:2149933 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cfe25db2-327a-4897-be9a-be9f4503afea CLINVAR:2149933 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2672ae17-2942-493c-b786-1c4b63a70d0d CLINVAR:865841 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 973ab0d6-02f0-4633-b011-570053389155 CLINVAR:865841 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78636cfe-435f-4c3e-9aa8-c58f849382c1 CLINVAR:98823 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8ebbe81-eda3-48a6-8642-e4af42c2ca6f CLINVAR:98823 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e71cfc1-4e2f-4a8d-a490-7f7ddec99e55 CLINVAR:978979 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d21156b3-c1e9-46ff-ac62-f00e75b4c504 CLINVAR:978979 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da18fa57-6e95-4e68-ab3b-47ac1a57b0d5 CLINVAR:968598 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f82525f-c863-4e66-a494-c2cd6aa30d82 CLINVAR:968598 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9abbc849-1fef-4bb9-9f80-0c391e35e529 CAID:CA902401 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2256410f-8da3-4011-ac99-1bbbc4f3d4c9 CAID:CA902401 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2c961e2-30c0-4bf2-a43a-083b2f8b9159 CLINVAR:560496 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 12fbcebf-648b-47c9-a0b2-c24f7d8f0bbf CLINVAR:560496 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4be6f3b-c009-41f3-89c0-6c28c18dd5a7 CLINVAR:556178 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 59aa4c18-7876-459e-94d8-db0a79979c49 CLINVAR:556178 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1395a40a-2579-4709-8f78-e7e2873b97ae CLINVAR:98854 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f244d692-71c2-46fd-9029-92c48ef76f94 CLINVAR:98854 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b44104c-98f7-4b99-85dc-cadcc899166c CAID:CA340744926 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49f64a42-fb5c-434c-b860-74146ff3cf7a CAID:CA340744926 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd122229-bde1-491c-b6a8-7e5aab39053e CLINVAR:942448 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60c418f7-a3ca-4be6-a66a-91139bce9b76 CLINVAR:942448 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d31b717-e22b-4ddc-8bda-7eae50180b76 CLINVAR:870346 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 66b55f04-25d9-42db-91e2-921fe1884866 CLINVAR:870346 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32668091-c6a5-4fd4-8de6-36334bcc3378 CLINVAR:865946 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af891daa-485b-4ce2-8358-0413e48e64ac CLINVAR:865946 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23b7f6bf-0dc9-4d00-a134-cadc36608693 CLINVAR:13116 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34c723a3-6d08-4268-a451-fda8cfb32dcb CLINVAR:13116 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7532c172-9bdf-4957-bdb7-ad08aae2a107 CLINVAR:521371 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 33a05ee1-07d3-4551-a47b-1acac8b80645 CLINVAR:521371 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b7fad0c-f9f9-44b1-9f64-e48fa2173bb2 CLINVAR:464114 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0084897-b11c-486b-8cea-03b2c535c30e CLINVAR:464114 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3d57ffb-9e4e-4133-90b7-cd54568611ce CLINVAR:1452968 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 19fcfcef-b494-4597-95e0-97aa5b1d49ed CLINVAR:1452968 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2ccdace-5e30-46ce-8e04-b116bb78ae5d CLINVAR:18292 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83793d1c-8431-4db6-984c-1f80153ab408 CLINVAR:18292 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd9bb726-5931-42d6-9313-d1b29fc6701e CLINVAR:338429 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 311f428e-0b62-4314-8932-cfe9057599ea CLINVAR:338429 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1134a6ce-d65d-4ebf-9b6b-1eb0f39c336d CLINVAR:129237 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f94a2c3-49d7-4609-b81a-d411a0be89e0 CLINVAR:129237 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 893c5ce5-52b2-4082-8255-d042785391c3 CAID:CA409110424 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6ee14cb-dac1-483a-889b-a0d8d8729578 CAID:CA409110424 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab5d07f4-10cb-4989-824d-adefc7d98773 CLINVAR:811 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6c45943-1b77-45b4-a598-76f8e00f0a78 CLINVAR:811 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c559def5-b995-440f-9792-e211f3134c4f CLINVAR:598113 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf43e3ae-d2cf-4226-9d2f-a35af195b102 CLINVAR:598113 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 498df377-06b7-465d-833e-dfc75a82b2c5 CLINVAR:4022 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac78d5d2-632e-4f12-8aa4-5b04c71f0a80 CLINVAR:4022 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b247fe4e-2fed-4a61-9426-b4370e4d3e38 CLINVAR:188484 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96be8dd7-afeb-4252-8c86-65e9a1e304c8 CLINVAR:188484 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d3abe99-b75c-44f2-b189-de50b0c36950 CLINVAR:375778 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09cd8aa8-10cb-4e43-afc0-a0cada08ea2d CLINVAR:375778 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a26571e9-7620-484c-8c4f-21d5ed3201de CLINVAR:569548 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2ffe3eac-ed90-4771-bdd6-805b18dc883a CLINVAR:569548 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2850fb65-9508-4047-8a86-9d9d1da1df5c CLINVAR:439360 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aff2048d-afb2-4843-851a-cf6f52961a81 CLINVAR:439360 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 071da05a-e50e-460e-b04f-406a71f3a415 CLINVAR:464139 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c86f7e25-18a2-4e9e-847b-4ce38c106ce1 CLINVAR:464139 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aad9b083-ee58-4109-a327-bead26728e79 CAID:CA915940544 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 64503a29-ed33-4ec8-b31a-b31aa35a92a9 CAID:CA915940544 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb6635ed-d2c4-4115-aa6b-e5e076054fc2 CLINVAR:420100 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5500935b-f680-4bb8-9dd7-e7bcbaf86c96 CLINVAR:420100 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b99a82b-88f5-4e88-a166-4d462d907ab4 CLINVAR:280863 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d2a66cf-f55d-4607-b5eb-6ffdf5dc41bd CLINVAR:280863 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edbd7c07-f8c3-4943-9794-a6c72fbe42c8 CLINVAR:817462 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0539c67-4d30-4d41-b9d0-b908922ee640 CLINVAR:817462 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e741849c-f2a3-4d25-aeee-b938fde1e51e CLINVAR:12881 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51522b30-743a-400f-8322-44a84cc727be CLINVAR:12881 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b232b7d6-e3d8-48e2-8629-86e9700b1e5d CLINVAR:1423525 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1ccb482-92a9-4bec-962e-e492dd87a44b CLINVAR:1423525 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f274d125-ff9f-49e5-8b58-437d9e58e317 CAID:CA2581998917 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 134a58b7-5582-4542-b696-36f5ba8eb699 CAID:CA2581998917 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e21f0a97-145e-4f30-8676-106858348955 CLINVAR:428153 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b984d6b-015e-4162-a0ad-757178ba6cfd CLINVAR:428153 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 043f93b9-b186-4450-ab9e-d2e549b51028 CLINVAR:433598 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d2f352bd-e5d9-4e24-abc5-ab3d4bf5ee6a CLINVAR:433598 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d76c170-dd07-4057-b086-93088c39dfad CLINVAR:9213 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2f7c6ca-132b-4651-8b1a-91454f836c76 CLINVAR:9213 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d97f6b5-f270-4afe-8882-2fcb0c50b4d8 CAID:CA409110369 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64f50640-6457-4fc4-a29f-e85165c860e9 CAID:CA409110369 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e22bd98-8727-4a29-add4-fd194f8fef5b CLINVAR:1687103 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07bbfe3c-0b9f-42ee-9735-1bf17dd17195 CLINVAR:1687103 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 980bbb66-9e03-4f38-9d38-244da2ad71aa CLINVAR:18033 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09bc9717-d3f5-4194-b5c8-ab8e1ead9e26 CLINVAR:18033 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29304c5a-0b0c-4266-8f9c-314da0b3338b CLINVAR:18020 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 376ce224-22b7-4716-9a57-136fb75bd030 CLINVAR:18020 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2b45c29-c036-41c8-930d-ff394b844161 CLINVAR:18007 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a6f3654-50df-4a09-b111-e6db5ad6cf00 CLINVAR:18007 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e33e950d-56d7-4809-836b-4c3509f32462 CLINVAR:626996 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49f1d0bc-7694-4a5b-a0b5-00cffd5a4e27 CLINVAR:626996 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37a5c1db-b7d6-46af-bb8b-df94755a1938 CLINVAR:18032 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17d06799-dfd5-40c7-9f56-045cb0133660 CLINVAR:18032 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26f5bf5a-4235-4ad0-9c2d-87638c645654 CLINVAR:2734038 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be70ab43-bfff-4939-92b2-79e42da4891d CLINVAR:2734038 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24ffd4b7-7598-4d5c-8722-4190eaa3dac1 CLINVAR:2505626 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd1521d7-2543-453a-9833-6fe55672c8b1 CLINVAR:2505626 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99e89663-007c-4f2d-b1e7-4eb2c4997643 CLINVAR:804125 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4fb539bf-c084-4e87-b1cc-f4b06798d834 CLINVAR:804125 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0326d29-c846-4c80-9f4d-e020ac2841bd CLINVAR:160202 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7c873dd-c936-404b-8d9e-f91f4473bb26 CLINVAR:160202 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c2884a3-312e-4f08-908f-3b43a197675a CLINVAR:200921 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63c8a3fc-301b-412b-b8c4-4cfe6c684a85 CLINVAR:200921 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75e4c37a-a012-4ebf-a9e0-1d0b9787f31f CLINVAR:183124 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen adabd5a7-555b-4475-97fb-11af8bc6eb71 CLINVAR:183124 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eeb479d-afc0-4fda-ae0e-f8edad5c0cd3 CLINVAR:252012 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1b8f66b-7364-41af-8f7c-5e4dbe1c2bba CLINVAR:252012 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1841c3e-8f3c-44bd-b454-d56e980d2dee CLINVAR:441220 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60a66819-37bb-4b37-a66e-6130301e7faa CLINVAR:441220 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1408cf2a-5e6b-4f01-be5d-67dc420ad24b CLINVAR:252014 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd3d7a3a-5dfb-4b89-befa-e15f8d788527 CLINVAR:252014 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d67ba8b-3fdc-49b4-afe0-d670d36cd3f4 CLINVAR:11909 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0848dc0b-9699-4f61-889e-20071b4ce1d4 CLINVAR:11909 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 101c4c39-7253-4d95-a489-39213e861b74 CAID:CA2573332225 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12edc21d-29a7-42c4-8821-af78bf0f923b CAID:CA2573332225 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e7e0aad-8a07-409f-bda8-d285d8401a77 CLINVAR:11908 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05162ed6-5999-475f-b49c-9ca659bbecc9 CLINVAR:11908 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c371d4da-a300-4a02-b7be-b5fa8f1a8cfe CLINVAR:11910 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46e9496e-83d1-4848-a262-bdac669fa51c CLINVAR:11910 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffd43f9e-27ed-46b7-bbc0-361ea86c7d19 CLINVAR:36211 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1498f08b-9009-4f92-82e0-eaec4e704ca8 CLINVAR:36211 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e7d32cc-1b0b-45c7-bb10-219b41f40c37 CLINVAR:931741 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7de50119-afda-4ea4-8f6c-0876fa85c3e9 CLINVAR:931741 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18cc6e35-de13-4ede-a1bd-2fa75580c9c2 CAID:CA409104248 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e123f40f-ca4c-4976-a17f-62bfd43b5fbd CAID:CA409104248 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1044c223-218d-41af-a57a-7e76111420fa CLINVAR:447400 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f68ce2c-d686-4470-be80-a6e2fd2a5270 CLINVAR:447400 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12be6440-b952-4830-81e6-45ecf3763a4c CLINVAR:1031829 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 973ce6f5-3d3e-42b1-b217-31514dd15770 CLINVAR:1031829 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a6c639f-1f88-405a-9cdc-9bd39f5b7b36 CLINVAR:427190 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d5a74d8-a134-4f09-b094-0764bd84e389 CLINVAR:427190 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56d3dd6d-8435-483c-9b82-4389489d306e CLINVAR:801630 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fc2b9646-d943-426e-9fc8-7b0e0f4239c2 CLINVAR:801630 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7c5e0e6-4fef-4baa-8959-6bfad8ec0102 CLINVAR:431989 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d3af38f-a9bc-4685-bce5-affeecdee32f CLINVAR:431989 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7492215-bb35-4945-a1a9-1c5a687c53d1 CLINVAR:654469 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d47501f1-dc2a-46a0-a811-263cd3af5bed CLINVAR:654469 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2552a36d-d1e9-4a86-ac3e-32a47265c3d5 CLINVAR:2136532 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77e5fd04-790f-4e39-94d6-2127d554c4f5 CLINVAR:2136532 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 098946d7-5491-40ba-9242-d0a19d9610a4 CLINVAR:812824 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67482478-9484-4097-8312-a210b62cd2b6 CLINVAR:812824 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b0e637e-cfd9-4318-b778-af173b3d15cc CAID:CA367403885 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 38bc0671-c4ea-4e7d-a50b-e809c843eeaf CAID:CA367403885 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec913405-5227-4bd3-a026-e227a7b2c05b CAID:CA367403876 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7531f7b8-c852-4a72-9653-9b2d9a38b2c8 CAID:CA367403876 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b829b012-908f-4767-8526-901de79482cb CLINVAR:1405428 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b246329-fae2-40f6-9abd-195735f6e3b0 CLINVAR:1405428 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6edb5a0-93d7-437c-966a-85b115b1603e CLINVAR:1676825 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2140e57f-886a-40d2-b888-a55c9902ec0e CLINVAR:1676825 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adcb4588-f961-46ec-8df2-531b2ff6d2c2 CAID:CA386960416 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df26606e-a393-4484-8882-8f57af91c48e CAID:CA386960416 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45a26e01-d6fb-4778-9d85-ea50b08a0f11 CLINVAR:3393497 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 601c5542-b00d-4f23-8406-f0405c7b6564 CLINVAR:3393497 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cffea5f-291a-411d-8636-94e0af5a1692 CLINVAR:1761584 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4bb6a55e-3ebc-43e8-9f9b-dd5dc251fdf8 CLINVAR:1761584 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2963fd2c-2398-41d7-9cc2-c3adb7a0056b CLINVAR:1679313 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 239e9508-00c8-40f3-84b3-1ece0038fae5 CLINVAR:1679313 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e448ebe-668a-4c03-91ec-ef0c76ac369b CAID:CA9870528 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 456913aa-e2d8-41b3-83cf-e48a8e7a7bed CAID:CA9870528 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45973b71-4175-4b5c-8020-c8faac9270bd CLINVAR:425882 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a8f0953d-e9c9-4ebc-aac3-a4bbf449c3e4 CLINVAR:425882 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4a2b6a7-3f5f-41b9-aa15-76491c829f7f CAID:CA409106085 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2eb95241-c7c1-452d-824d-ef4b933fdf12 CAID:CA409106085 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19c8aa3e-4ef7-470f-af85-61726e90c769 CLINVAR:1399408 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ce83927-cd90-4cd8-8380-a79321aae563 CLINVAR:1399408 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54ffdd21-03c1-42ad-b8d6-8629766433b6 CAID:CA2573320359 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5981206-e480-444f-abd8-2f51478e343e CAID:CA2573320359 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 343abe56-a48b-4b51-ae08-f16027f03ab9 CLINVAR:812825 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdcf3814-4856-4743-8728-34dc5beb04c6 CLINVAR:812825 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0de4a18-e1e5-4023-a9b8-bfa65673889f CLINVAR:425892 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02ff0a84-039e-41be-80d7-148901295974 CLINVAR:425892 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29283b28-a599-4e22-b603-fb41240a6f7d CLINVAR:812826 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6238d031-a20a-4d61-94aa-ca8d096e4da9 CLINVAR:812826 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69f1dda7-cceb-4e44-97bd-c67f7d1e4413 CLINVAR:425895 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03692081-4930-419b-967c-0ead69d9f3d6 CLINVAR:425895 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d26c274-fd89-4d7f-8ee0-14751a35059c CLINVAR:65961 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4a4f091-c1d6-41b2-81c6-f265e263d673 CLINVAR:65961 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d247f5f5-d668-4a40-a7da-4fa84a131242 CLINVAR:65923 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9dd98cd6-7bf8-4210-bffa-70661e5d2a00 CLINVAR:65923 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfe9ccc1-1f5f-44a0-b19d-c1307e57bb26 CLINVAR:328993 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80d20ae4-1d48-4074-b9e3-93324dfa2b3a CLINVAR:328993 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6726a7a-ba22-44a7-88e2-7fad406c1bac CLINVAR:212104 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 911266b7-96f4-4851-9f0e-b9ebc79e0387 CLINVAR:212104 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 730ff0d7-991d-485c-9ddc-60c5425b9828 CLINVAR:651289 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2fceb1b-f7fd-4160-8a2f-56ea3f2eb76c CLINVAR:651289 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e2b8727-0bbc-4893-8fae-1aa71f734d93 CLINVAR:571399 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f835cd49-699b-4ef9-a270-6f033c03163f CLINVAR:571399 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f266ba76-6afc-41b1-bc11-11b0e0c6b68b CLINVAR:425897 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a480bd38-6e9c-431e-8571-bccd633d3550 CLINVAR:425897 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4eedbc94-93b4-4012-8b20-2aab26f486e2 CLINVAR:812827 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7c11a017-9465-43e2-8f5a-364a0270aed0 CLINVAR:812827 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68997aa3-e27f-4a27-a46a-1dd394bee01a CLINVAR:425905 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 90c7f47c-f3d6-4207-aade-632bf99b1559 CLINVAR:425905 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d22190b0-257a-4817-b719-cc00981f865c CLINVAR:10573 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cabe176c-3fc3-43ea-865b-3bce3242c4aa CLINVAR:10573 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd850ef4-b9b6-4775-bf3d-806c6df1b659 CLINVAR:811516 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eecae7e8-cc12-4afc-b414-0db610155dcf CLINVAR:811516 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c2c7615-2cd4-4486-a2cd-cf1e3acd4036 CLINVAR:140555 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36414aaf-0148-46c2-8e4a-9a76ae3b4b5b CLINVAR:140555 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2bfbe09-8c55-444b-810a-f2ee8f1bd11d CLINVAR:2166 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 221c4eef-d651-4860-985b-a5d2a30eff8d CLINVAR:2166 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d51d53b9-7f34-4862-bcea-e3308eb474a0 CLINVAR:282006 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 744465b1-ff72-4e3d-9f58-3c5b70099393 CLINVAR:282006 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfd5eaaa-15cc-45b3-86e7-c2ab69113ac4 CLINVAR:627324 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ac74428-40af-43ac-96f6-8834c256cced CLINVAR:627324 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43388213-8956-45e4-8bc6-c4a6e61138ab CLINVAR:195634 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5de3f575-b871-492f-9e61-4a871c45818f CLINVAR:195634 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6799c808-d4dc-46e0-acdf-719a80ae2381 CLINVAR:439677 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00ca5bc5-0c3a-4453-b0f9-5ce8ef5f2c7c CLINVAR:439677 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cea5895d-947c-4c77-a9e5-432a0286b66a CLINVAR:96688 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 684aaf3f-5b3a-47c3-ba33-11a28b901385 CLINVAR:96688 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 993c2662-c595-4e13-aa7e-b3c348fd954a CLINVAR:468825 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb368667-5896-4cf0-aca9-9f86f2a230cc CLINVAR:468825 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88497b05-8a8a-4970-9381-7482fca2f1ee CLINVAR:286467 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen feda498a-a43a-48ad-ab41-1dd6672c3812 CLINVAR:286467 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 876861ff-6809-4f12-9701-5cfe4a4a1fa1 CLINVAR:284518 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 979665cf-a90f-41c0-aba3-bb6a585087ce CLINVAR:284518 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 394a4743-e4a8-4b21-b39d-49203f1be223 CLINVAR:286592 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d4bc8fa-cd78-419a-bd42-e810da6c899e CLINVAR:286592 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 558c29aa-abff-47f0-988f-be8e172288a4 CLINVAR:17615 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4a9db95-51bd-454e-9f2d-3c6639229fa8 CLINVAR:17615 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fbf7c92-7e09-49fe-b06d-65403d6455c8 CLINVAR:496977 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 27457fb4-0930-4ad6-83d1-9c4d47f161a4 CLINVAR:496977 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c92981d8-7131-4d5c-ba03-9cc2892ff0df CLINVAR:92411 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ccb613f-508b-4963-8909-7672126b5607 CLINVAR:92411 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c2c1462-29e9-4672-adc3-9020d567a851 CLINVAR:1072479 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a21e488d-98a5-4d37-824b-10ad0b493f06 CLINVAR:1072479 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64334edc-4c2b-406a-a43c-92dd81049b0a CLINVAR:217159 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89259520-7416-4f60-987e-203085df9fc3 CLINVAR:217159 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 477f59f2-03da-474c-8816-e2525dd9d9f6 CLINVAR:282623 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c00da946-0fb3-4fa7-827c-a83c903f4809 CLINVAR:282623 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77155712-ace2-416a-a389-d296d6a456b6 CLINVAR:284946 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 242ffb04-48e9-4775-bf3b-abaa954efa17 CLINVAR:284946 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23d9ee1d-8c96-4991-be19-ff01c244f0c5 CLINVAR:594086 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dce935f8-9da7-4095-84dd-3f12e31ebf95 CLINVAR:594086 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5466d56-9351-43ff-b8d3-b9dd79f579e9 CLINVAR:452720 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4b503e8b-8963-4112-9a61-a276a9891acd CLINVAR:452720 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ea2c72e-59a8-4a01-98e5-d878dce48f29 CLINVAR:37202 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8dd8825-8a94-44c0-9ab8-56a8b7dbe712 CLINVAR:37202 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18bb516e-6739-40e8-ac2e-40abf7dbf3f5 CLINVAR:497670 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be430ff8-cdba-4a2a-afdc-59e1733640e8 CLINVAR:497670 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1ce941b-55c2-4e9b-b57f-d1f5ae8e5f4b CLINVAR:198031 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ee5134d9-05a6-471b-9839-cd5498031803 CLINVAR:198031 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea935185-ccbf-4354-890e-bcf8020cb6f4 CLINVAR:497672 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1ab51de-dcbb-41f9-93cc-983f8051930f CLINVAR:497672 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9256f62-4556-4303-a206-70f837fa6d08 CLINVAR:9437 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4f72521-ee92-455b-a7fb-c66abad24eb3 CLINVAR:9437 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c3cdf41-9afe-4072-aadc-34f4fc32f482 CLINVAR:978048 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77e21b7c-4907-445e-91ee-34467df7e83a CLINVAR:978048 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e503fd4c-7661-4860-ac60-8ca8011050e7 CLINVAR:523842 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a4e81f24-5f52-4ac5-b6b2-0fe3ad0da119 CLINVAR:523842 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30f70fd1-2597-4700-a21e-fb473e4b78a4 CLINVAR:284504 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06d283ad-7243-46da-a7c4-0f513d270971 CLINVAR:284504 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35b6c6d0-973b-4ff6-8d01-b6f5f471d3b6 CLINVAR:370474 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ddd1d90f-6ed3-4926-bd08-a902ed739ffd CLINVAR:370474 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da69e17f-2a4c-4560-a480-e2f2fff80d6e CLINVAR:551805 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 320cf5e5-e09e-4eb3-ba6d-d505d75b6122 CLINVAR:551805 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ce42443-fb72-459d-981f-a0a0355614d7 CLINVAR:8714 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1004e6e1-0778-4e74-abb0-cdf2aba86a6a CLINVAR:8714 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3bcba32-6d9d-4b6e-a555-6bf8de4bb982 CLINVAR:1451826 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0aa52579-7a1f-4406-bd6c-7686e4c9e779 CLINVAR:1451826 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 846eb440-5975-46c1-856f-297a6600b3d6 CLINVAR:289650 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 83f5c728-0639-463a-9f79-8d1d64260b8c CLINVAR:289650 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f5bbdde-3b35-4a76-b874-40681a30ef2f CLINVAR:836267 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f4a804a-17aa-4b8e-806d-fffd702e1721 CLINVAR:836267 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 869caa0b-1e47-4eed-a96c-ff43c5eebd4d CLINVAR:189243 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4543f143-ec6e-45a1-8424-d1123d2f3010 CLINVAR:189243 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdb0e2c4-a7db-4ee0-a485-6ed5bc52da98 CLINVAR:2008 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0af8ed34-c770-4859-927c-bbf93ad9a68a CLINVAR:2008 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f668041-118c-4e5d-a7cf-da15f245afa4 CLINVAR:192194 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ef8edcc-ce45-4e83-9784-1bb31f389177 CLINVAR:192194 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f41ec2be-f43d-4394-ae70-a8f771582c96 CLINVAR:652862 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8fd9b5f-7392-4b3e-ae09-7831aa1f83d8 CLINVAR:652862 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aa60665-4897-4f96-a0bb-0579c0cadd64 CLINVAR:8172 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b17b7e3c-2391-4678-9322-663f36269637 CLINVAR:8172 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 578db762-9d43-4cb9-9879-94fe021bb94b CLINVAR:202088 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6349a942-d696-4d3a-af3f-112ffa8aaa59 CLINVAR:202088 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da970f13-2809-4a63-bed2-df7ca2cc4b85 CLINVAR:1677453 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a35e69af-6283-462a-8f9d-048decd27235 CLINVAR:1677453 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 799dea15-d3c3-40ab-a819-4390f577cd76 CLINVAR:288644 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a209b35-8273-485b-986e-a7a4effd4c4b CLINVAR:288644 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14cdd272-5317-45ab-968a-c1257e5d634f CLINVAR:217224 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfa4c9f6-b80f-4725-86c9-a83df99c46df CLINVAR:217224 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87ae55a6-eb78-489e-9623-25a9d23f6e49 CLINVAR:290209 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 71bf10de-9d15-4f48-bd8e-b2feafda670a CLINVAR:290209 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b18bdf92-6dff-477a-8ff6-4164e2c93086 CLINVAR:94365 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac0029fa-43d5-4a48-8ed8-1a034d442637 CLINVAR:94365 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06cef84b-d398-41e5-ab45-bf8ba700cd0e CLINVAR:282861 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a60824e-ce32-494e-897d-26c03f96e9a1 CLINVAR:282861 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfdf0cdd-a3f8-47c8-9988-94c10e51585e CLINVAR:195490 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29fd2889-7ac7-4de2-8f0e-6bac5df00321 CLINVAR:195490 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4da99aa2-428a-4944-a7ff-1f63ed33d830 CLINVAR:94291 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 085175ce-2687-4083-9343-d0ebb36996d4 CLINVAR:94291 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a3452f9-9add-4942-a872-4a47a08cd02a CLINVAR:936623 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e75c481-14e7-4147-a6ac-31dbc0c161b1 CLINVAR:936623 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79d68b58-67c0-4fa5-8bef-d9b6b426dcfe CLINVAR:6685 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b981908a-2136-432e-9b4a-a0238dc22661 CLINVAR:6685 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92373d84-2e70-462d-9cc6-9d6b76417e0b CLINVAR:94347 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd9010d4-c12e-480c-9369-f0bfc8d7bf39 CLINVAR:94347 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53a3f9f8-a784-41b9-8e39-05281384a92d CLINVAR:2674990 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 432aa12b-b945-42c6-89db-b8daed19c1c0 CLINVAR:2674990 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 902ca4e4-df4d-43ad-9056-69539243f38f CLINVAR:288647 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23527ada-218a-40ce-a2d5-dbdb0bea8b23 CLINVAR:288647 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b24f83a-6580-4e04-a958-f048bd56b4c9 CLINVAR:2734216 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 047d8de6-e747-4c33-9165-4390bc84c021 CLINVAR:2734216 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a249e4f1-35da-4adf-884b-6241238dd87a CLINVAR:283205 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a716c30c-002f-4a8e-89c1-c0a53f234ac7 CLINVAR:283205 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3550de02-706b-4aa2-9c52-36d84300ec68 CLINVAR:6684 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 669724de-80a8-4a0b-82e1-fea3f3126c9d CLINVAR:6684 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62e77ac8-6faf-4bda-b257-b4a4da0bdb18 CLINVAR:1803708 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09177a24-e20e-451a-8b8f-d5a205fef760 CLINVAR:1803708 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6861e4d0-73a6-4dbf-9dc8-0c07e1b1b8fd CLINVAR:94278 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30ad3870-cc31-4f14-b136-f97b3fb43780 CLINVAR:94278 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f735c0d0-be42-4989-aed8-24333c3c9cc0 CLINVAR:555968 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5049c0e-af3e-4378-a1e8-86aa67cfc5f1 CLINVAR:555968 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9aa287d-0ff6-4d9a-9554-aa451e54a110 CLINVAR:312 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7d10b24-eead-4998-a712-cf50f02db44c CLINVAR:312 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 270dbf7a-07a4-47aa-b64b-a9bd9899ceac CLINVAR:100208 biolink:associated_with_increased_likelihood_of MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 09eaef3e-f914-4404-85c4-6d1913644c57 CLINVAR:100208 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21890eb1-a71c-4345-ae62-35c7e290185d CLINVAR:813985 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51f4aa0e-e8fa-4fff-a5fd-d99442fac108 CLINVAR:813985 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77f998d5-89eb-47af-8ef1-1e8fbeb9eb91 CLINVAR:653601 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e8b2d2e-8a40-45d1-9fad-5f66346c74ee CLINVAR:653601 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f086f78e-f2b7-40c8-95d5-b77b65951631 CLINVAR:17621 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68436b77-c6ac-48f8-8d9c-a8d1d6346403 CLINVAR:17621 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1512e810-1faf-40c9-9eb7-b61dee93ca83 CLINVAR:217151 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d98d52e8-c2fb-413d-ae71-133d265e5829 CLINVAR:217151 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3b9783d-5b65-4ca5-a61d-06aa180f0c55 CLINVAR:620114 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c896b0a-023b-49c6-97ad-f0cd1105276a CLINVAR:620114 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3153dda-1738-49d7-a8ee-63efb37aff13 CLINVAR:17618 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bba4f733-d6aa-4185-a3a9-6f92649e916a CLINVAR:17618 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02208437-d548-4810-bac7-497dee2146fc CLINVAR:501754 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0259a9e-d486-4391-8c22-4f9562378974 CLINVAR:501754 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3c53b7c-2aeb-46de-91ae-7f6c72ad4313 CLINVAR:92408 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06cb5fd4-a1d4-4fbf-9a4d-384693d1aa8e CLINVAR:92408 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb118aa8-d549-4590-84f4-78437dfd4b0c CLINVAR:65693 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c841973-a00a-42e6-b673-ccf309942c81 CLINVAR:65693 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fbf172c-f2df-4852-a56c-76469eb9671b CLINVAR:197624 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 082b4945-0aad-49e2-99fd-0f6e24efb0cd CLINVAR:197624 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75f8580e-9af1-4f96-8ff0-5cb71862fcca CAID:CA2830782976 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93d9adf3-e087-418f-a3d4-57b109a627ff CAID:CA2830782976 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d54cbd1-a8db-48b6-85e9-04f9b023946c CAID:CA2582131592 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53416002-867d-4fab-a1ef-f394bd923c52 CAID:CA2582131592 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72d302e4-a2b8-4523-a3a9-dbd56b59940f CLINVAR:217147 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 278f42d4-0e6d-483e-8e1b-b3bd1ba195ae CLINVAR:217147 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f274eb0-10e9-493f-ab9c-5bfcb6ade9f8 CLINVAR:17622 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5585610-ff32-46f1-bcb9-a2db0f1ce582 CLINVAR:17622 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 275a1a84-19fd-4963-85ee-0e070b2f90f1 CLINVAR:166790 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e8e7263-20d3-4e01-8469-e00520737258 CLINVAR:166790 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d53c366-9b81-4dd5-a0ae-a40467854251 CLINVAR:283259 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bce10395-c67b-4372-bf9c-96ab6d024ac8 CLINVAR:283259 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8623b2c8-66ca-43c5-b10d-37e0a3552627 CLINVAR:289082 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d00ce552-46de-44ad-8eed-5956b105fa66 CLINVAR:289082 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eee696cc-d167-473b-ad4a-c3398e97c7bd CLINVAR:282873 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39050a52-82a5-4b61-bdea-7267d95b65a3 CLINVAR:282873 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 773a06f4-b16e-4335-af59-49f1ba3470a9 CLINVAR:497182 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 73ae8f2a-b493-4144-a482-12023c251989 CLINVAR:497182 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1b542f9-8207-403b-8f2f-166c3f05972a CLINVAR:554906 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 947caa32-3d13-4f66-8ab4-ca869cf93f6b CLINVAR:554906 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17bed5fb-95c6-450e-9aca-aea52318ea73 CLINVAR:280226 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen deccb041-9201-42eb-9721-671e263ff749 CLINVAR:280226 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8759f945-59e7-407c-a66a-2dc015e9df04 CLINVAR:1429635 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7abd405a-b7c3-4c2f-8fdd-c5efe35c4604 CLINVAR:1429635 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b56ec0e-a492-4b61-8af9-a1ea08ef97be CLINVAR:651752 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 21e04c05-9832-489f-9ac1-b4bd7f192c0b CLINVAR:651752 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b0267c8-450b-421c-8cd9-f453bad0f698 CLINVAR:499193 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 145d06df-8c07-46b3-b58a-898768c54acc CLINVAR:499193 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e442475-2cc2-4267-b837-9910e5884498 CAID:CA2695237858 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1ee6b4d-2c1f-407a-a678-d5ee57293818 CAID:CA2695237858 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1fe104c-861c-41be-9206-ec759b1cfc6d CLINVAR:8712 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 575727d2-1d15-425b-8f42-ed2b39cef08f CLINVAR:8712 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da864d5e-d77e-48cc-99e1-90f9b7c77fa2 CLINVAR:804100 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f243011-4547-4396-bca5-791917907a9d CLINVAR:804100 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36f5187a-aae4-4d1e-8c8b-20bfa504cded CLINVAR:9439 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1105e3c7-e50b-45d4-92c5-9ec0c5326864 CLINVAR:9439 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6136b9e9-9292-4ded-9007-a12a8d209b4c CLINVAR:427187 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a18432fe-1c0f-4e89-8d93-4b76392bdf74 CLINVAR:427187 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f14190a1-229d-4ab5-8d15-67f79f395aa9 CLINVAR:197094 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 409d2992-7faf-4eb3-8479-ef2d4a04c81a CLINVAR:197094 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9987ebea-e5a3-4fd1-b47e-32435e2000e1 CLINVAR:92302 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 89a6db88-4bdb-455f-b2da-ef3549b7d703 CLINVAR:92302 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddfd31d9-fd01-468a-93a0-d5f8005f8b71 CLINVAR:1336429 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f526329a-4f5a-4c44-b3a0-db26bc92d3ae CLINVAR:1336429 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4d26e09-23b6-43c9-879e-9ff2a5462eb6 CLINVAR:217250 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8df904d-7bbd-499f-a7aa-e610b0416a7c CLINVAR:217250 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26416561-1085-4b9f-afc0-d0d553169b96 CLINVAR:197402 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd0cdafc-17de-4181-a468-47acf00caf7c CLINVAR:197402 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b76b571-a7ba-480a-8d04-f380f2ef4643 CLINVAR:2164 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77156270-a36e-4cce-a027-ce00f9011cab CLINVAR:2164 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9ea09b7-708a-4ce6-925d-a3061d75b87b CLINVAR:280322 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d4920f3-d67a-4496-82e5-ad31db19156f CLINVAR:280322 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d740a91a-0e79-4131-b538-ec40ac7a2bc1 CLINVAR:370775 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4002cc7e-006c-4223-b977-8dc1b7927d51 CLINVAR:370775 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd79d48c-7f92-4834-b612-8b71c8e7703e CLINVAR:252122 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49db7dcb-a142-4299-b50a-8fb9ef85acbc CLINVAR:252122 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 689c1e01-565c-4ff3-88e7-c68f2a6405cb CLINVAR:252121 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42b2e930-db11-4877-ab18-82876ef3989d CLINVAR:252121 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a120bd5-dcb4-4075-8988-57c7f2c82704 CLINVAR:252132 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5b94d0e-684f-4659-b049-bc68136f9f45 CLINVAR:252132 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a0a9454-28ca-4284-994b-66de0d42cd87 CLINVAR:979168 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03752518-7cb9-49be-b4d4-52aba9ebe7a5 CLINVAR:979168 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1483773-9ba2-4bfa-a771-67eef0ca1e62 CLINVAR:250929 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 996c0003-fd1c-4e85-bb2c-62c60a1156b1 CLINVAR:250929 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 990233a9-96ea-4eb6-aa0d-0f7275d609b6 CLINVAR:407699 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 494c9912-e9c2-41c6-a913-6f8ab7034a05 CLINVAR:407699 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b275c11-b8ed-4123-a528-3284b10906bd CLINVAR:3572871 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2ab70353-fb1d-4c35-ba3a-eeb0ba002c37 CLINVAR:3572871 biolink:is_sequence_variant_of HGNC:28519 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc00537d-e38f-4dab-9797-47563ba58fb0 CLINVAR:189177 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c639ac4-6a39-47dc-90ae-4744daf32686 CLINVAR:189177 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff74bd1a-7a22-44d0-8a6f-e31383c0faff CLINVAR:232248 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6073a2c-380e-43af-a53b-b7abfd90bc50 CLINVAR:232248 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a1ee088-f0bb-4797-95e9-410040611fb3 CAID:CA2497029997 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05d967e7-b5c8-48bd-afba-89eb0b415692 CAID:CA2497029997 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1505c0c3-981d-44ce-a68e-4a74b8cb7f3e CLINVAR:3148828 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4b8597c5-de19-436b-9e9b-26e4374e755a CLINVAR:3148828 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2a7f56c-d23f-4a32-ae54-9efa3a386ce7 CLINVAR:646712 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d60c2d5c-5f0b-4d73-89a2-2462b706247e CLINVAR:646712 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b441a197-81a0-4ec7-8f2c-81ec4cae6e51 CLINVAR:482526 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd4dee35-2766-417c-abfb-6e2dee854451 CLINVAR:482526 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d39764e5-bb7d-4e6a-bccf-a1c9c0e4063f CLINVAR:135780 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c53641a4-0df3-4c26-81b0-208fceb265fc CLINVAR:135780 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08bab4b2-ee2f-4d88-b8f6-754aa84aff75 CLINVAR:846136 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab3d3b6e-2d20-4c03-abc0-f5d3f45f52f0 CLINVAR:846136 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd17c2b4-0caa-4d11-b4af-1e19dda07672 CLINVAR:1422249 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d750a648-4edf-4f16-b33f-91e825b79877 CLINVAR:1422249 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3190bc04-d9dc-44ff-af60-0d120e1ccead CLINVAR:420008 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77338475-7e4d-4455-96bc-00f6909d9379 CLINVAR:420008 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c682201-4d9d-467f-9b3e-910146be3c73 CLINVAR:857860 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4dd365e1-c9a1-4443-a01b-6f22dd673f64 CLINVAR:857860 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d78baafc-f0ce-4c4d-aaf7-02c7e8437b65 CLINVAR:142355 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb028ace-605a-4155-a4d9-429089e1a460 CLINVAR:142355 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc9e1eb0-6ac9-438f-81f4-3e2701bb6971 CLINVAR:371636 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b3cab79c-3805-4f3f-8915-e656813ca176 CLINVAR:371636 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38ad15bb-e95f-44e3-a43d-d029e1848c11 CLINVAR:185137 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a083a3e8-ac89-4015-9504-468cf0ea9e0a CLINVAR:185137 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98be4fbe-5406-45ff-9fa9-f26af4a7018b CLINVAR:826252 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43b0f2f2-3e72-40cf-b3f1-d7e6a33ed9f9 CLINVAR:826252 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 064d0202-0c31-4b6f-8304-0cd469842fb9 CLINVAR:407482 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29e008df-7d69-4cc1-a8c1-7e5dca0751aa CLINVAR:407482 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca6ed360-51b7-48d9-977a-b1aef02b80f5 CLINVAR:141721 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b1f3bf4-0d57-402b-b6d4-f031d84f8c02 CLINVAR:141721 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 267ed1e8-04ca-426b-9ef7-c75a7a58e966 CLINVAR:142187 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c7f9d512-8eea-441e-8ad5-00268feb09b9 CLINVAR:142187 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c32405b-dce8-43fb-b8b8-5467e8dbc431 CLINVAR:189104 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ecb90a4-78cf-4904-8b76-ff5eadee01cd CLINVAR:189104 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a65e0bec-d36d-489d-8dbc-05f2af2f81dd CLINVAR:233553 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4358175f-7522-4dba-b2c8-9b8b1c26e2c7 CLINVAR:233553 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 980a8057-a8b9-42f7-abd8-11102e6286f6 CLINVAR:420368 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4409dc20-2ee0-41b8-ad5e-7cb00828b345 CLINVAR:420368 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44674047-7b62-458e-aaa1-b530a9be5afd CLINVAR:140889 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c5ed882-d43e-4ea6-9623-549ecc39675c CLINVAR:140889 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cb0db16-fdf9-4893-8293-f30429e38a93 CLINVAR:3035 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9944a022-cd36-4c25-b2d9-cba06d234253 CLINVAR:3035 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73a0d854-dc00-41cc-8412-80df152bb5c0 CLINVAR:186242 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0674fc84-b341-46f4-afd2-c76dbb2e40b4 CLINVAR:186242 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 776f74d2-e5da-43e2-bd4e-e40ffa6d9c66 CLINVAR:3021 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d491abe4-fc4c-4170-b430-c4f4948d93da CLINVAR:3021 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3297191b-cf0e-4ae0-ba4b-0f3f9cf3830b CLINVAR:216024 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59fd5668-47a6-4061-b0de-8355380b1d00 CLINVAR:216024 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a3130c9-873f-495d-b9c4-1c40f7206b02 CLINVAR:417621 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77a77c14-09c1-4217-850f-5e237afa4bd8 CLINVAR:417621 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e318c5a-8d5d-4b24-8bad-da38ed70caec CLINVAR:221124 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e455b602-289d-499d-b09a-f35ae037175c CLINVAR:221124 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9038dc4d-c569-42c6-8914-9f714412388f CLINVAR:127374 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e3107a68-b28a-4c35-96bd-4cfbd72a5df5 CLINVAR:127374 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a238abda-f328-4cd1-b786-215db64a6a26 CAID:CA915940463 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b2ada8d7-993a-4ea6-a169-fcefdbb09610 CAID:CA915940463 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1819b126-03ab-4170-92ea-f3ac4ec05326 CAID:CA414914388 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7e361cb-4803-42d4-bc23-f697bc3a897c CAID:CA414914388 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a568fc26-c786-450f-b4f6-6c91cecb642f CLINVAR:2123722 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3dd40558-ba9d-4314-bd09-e48a607079f2 CLINVAR:2123722 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6cc220a-795b-4b16-866f-574a910de65a CLINVAR:2420457 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3e9c12a-ffc7-4e57-8cc3-5cd9e890eecf CLINVAR:2420457 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db339e65-9ffa-4bdf-b26e-452d037f3b51 CLINVAR:3343122 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a84f367-8576-4aad-b898-30ea682daf14 CLINVAR:3343122 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55bdd6e3-673e-4b2e-9c13-c8bcc92924bc CLINVAR:3351124 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4c96e02-544a-4394-888c-fa71e340bfa7 CLINVAR:3351124 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d755362-ec3f-455d-8a0d-551916d8bfab CLINVAR:897696 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 982adb59-1140-4f1d-a44a-4466a488d9f3 CLINVAR:897696 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 210bcb39-0be7-4d7c-90e1-7b02b6ea6f76 CLINVAR:2851140 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1bc4e349-ef19-4f9a-a8cb-e074f037cf92 CLINVAR:2851140 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96ee3236-361f-4822-adc4-6352e5c6f796 CLINVAR:3067798 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b81afc79-a083-47b7-8a1b-0d34ea855d89 CLINVAR:3067798 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29d658b1-e39b-437d-9e5d-a15e46c4a377 CLINVAR:2631353 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 668d4d52-bf35-4db6-8fef-edcdaf5059b6 CLINVAR:2631353 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8e470dd-062c-4991-b1c9-27cb4341e6ce CLINVAR:2844927 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d8a6aef-fc09-4b33-847f-f88b708e0065 CLINVAR:2844927 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f146f2ea-69b0-496b-8131-4eda21f26d20 CLINVAR:1299484 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b81a331-221e-40f1-8ddc-061b7880f48a CLINVAR:1299484 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0da1ccbe-33c8-4a64-84ce-42baeb0df12a CLINVAR:2501756 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 323903f2-6f03-46f7-95ca-87ec52eb3625 CLINVAR:2501756 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9945315c-3f18-448a-bb99-ddc56d35a384 CLINVAR:2799017 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c6b6e57-209c-44ce-a65b-465ab8e61c39 CLINVAR:2799017 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c775603b-28db-44f3-a980-6f56c575755f CLINVAR:2852907 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 376a3c54-6f6c-4e63-813c-2f762bdb8fa5 CLINVAR:2852907 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ee2cc34-7152-4eb0-b42c-9e29d14c8de0 CLINVAR:2997653 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9b1da38-a000-41de-9028-d106fa570615 CLINVAR:2997653 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0251d436-ef2e-4f79-90f8-048bf73a5f25 CLINVAR:3240390 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9372bc6e-d8f7-476f-a0e8-31da767dd0ad CLINVAR:3240390 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc4ff067-95b9-4f9b-aee6-f565f75c2fed CLINVAR:2717092 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96351350-96d9-4137-8f92-2ff5bd406271 CLINVAR:2717092 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a300e2ad-8dfe-4945-8992-9f1c3b187609 CLINVAR:2632141 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe3ddb85-46c1-40e9-8fb0-18f76ec9c264 CLINVAR:2632141 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17f2facd-65a2-4586-b7c5-12423735f4dd CLINVAR:3370501 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e424fa16-61d0-46f7-a071-e047197bb4e9 CLINVAR:3370501 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f37c98b6-367a-4c55-84da-aaf7a997aa10 CLINVAR:1016211 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f57be17-5f61-4523-bfd5-4aad2cab7023 CLINVAR:1016211 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52f5711d-bf31-4830-a3d2-5494f4f48379 CLINVAR:1512844 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51aa7117-8b25-4e30-9a9a-74508bf47437 CLINVAR:1512844 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1902b6ce-c8ab-426d-810a-543a6e84e2aa CLINVAR:1412137 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 125c6b49-2612-4ae7-98a7-ff55f40533e7 CLINVAR:1412137 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9984c5cf-4ff4-4578-9ffc-8def15ce8c9d CLINVAR:1494340 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0840075f-b6d1-460c-bfb8-6aa94a1eef53 CLINVAR:1494340 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1552486-b109-47d0-8937-b80a627c6ba3 CLINVAR:964573 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 824f3612-a655-457d-810b-a2610a5d9228 CLINVAR:964573 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ded0d778-271f-40b7-9112-23c9e80bdef2 CLINVAR:1042591 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc70647b-f267-44d4-84b5-8c6ca46e6c50 CLINVAR:1042591 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e68cb120-77b0-44ea-a9f1-f7a4ddf25e67 CLINVAR:1055781 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 397a795e-812b-4eff-a25c-0cdefebc0096 CLINVAR:1055781 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86ef93b1-3977-4927-9779-4d687eda84b4 CLINVAR:2096033 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9f435ef-0740-4e6d-b008-3b237c31972d CLINVAR:2096033 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d1518b6-dd81-4209-abca-3c9fa57c3c51 CLINVAR:1491076 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen def3849d-2416-47b5-a98c-cca217dcd3b9 CLINVAR:1491076 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ec47996-dccf-40d4-9ce5-d3a30fe6b274 CLINVAR:2758444 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b71e4ee-fbbe-44e3-8468-b610bece6d95 CLINVAR:2758444 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bf1ac95-51af-4af4-acc6-50f4134ba52f CLINVAR:1515908 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15d9b522-4103-43f3-9a87-31f31cd8139d CLINVAR:1515908 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04652987-e2c0-4692-bafa-fa6fa4805380 CLINVAR:2860395 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8bd332b-e110-4307-add4-58fbce00d7ed CLINVAR:2860395 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a111bf2-d2b7-43b3-8c3f-aaccd464a370 CLINVAR:2792019 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 700457b6-83cd-49c1-8924-59200302937b CLINVAR:2792019 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30590b64-478f-4b94-9875-e8f7c81a2188 CLINVAR:2765874 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 747d8464-b571-48a4-802d-cb42c5294a90 CLINVAR:2765874 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d8e3ce9-6056-49cc-ac4a-a1c1c35f6d13 CLINVAR:339840 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1125087-cc2a-4f73-940c-afe0f9ecffa0 CLINVAR:339840 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8786cfb6-5933-4d07-8ca0-bd6acf237400 CLINVAR:3240387 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f73ab91-2839-44f9-a6d1-936006dc4ac5 CLINVAR:3240387 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad693ea6-3a29-46ab-98d6-5bc8e231a79f CLINVAR:1063856 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e4b46cb-0d08-410d-91b9-e04524576806 CLINVAR:1063856 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f53ebb9b-6748-43c6-a857-8d87b067fe39 CLINVAR:898791 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb821267-a5d5-40c9-9215-56c2145e06e1 CLINVAR:898791 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 496c0d4c-804e-446d-b8eb-88bcba4be4e6 CLINVAR:896106 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c247ed4a-b6f4-4e54-8a50-11ea3397e08d CLINVAR:896106 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ea8ce12-0f09-4fb3-948a-309f950a96cd CLINVAR:2783241 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6078547c-be23-4a96-86e6-ba27a0293d33 CLINVAR:2783241 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95bc1a14-3b1f-4a9c-a3a3-2091dcc443e4 CLINVAR:895824 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 988d068d-04c9-4032-913c-89fbd8c6e444 CLINVAR:895824 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa12e91e-f49d-4db1-959f-ee14a7315b9b CLINVAR:339836 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11f89e64-b3ca-4f3a-b4a2-e63fd16a2342 CLINVAR:339836 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 336f4e3e-2937-4d6b-b6d9-132b47546c96 CLINVAR:1701963 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4ce1602-ee8a-4b93-92d6-eeccc376034e CLINVAR:1701963 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a2ee786-6972-4b28-9898-1b986a73d280 CLINVAR:896107 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8dc11976-9243-4487-9f5d-0e6ca26e4c43 CLINVAR:896107 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a586bef6-9cba-4a40-afe7-cc106130740e CLINVAR:895756 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 043abbc7-1dbc-461b-a45f-cca8d602f105 CLINVAR:895756 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d64fbfba-ee68-4a62-a1a9-9f140aed6dcb CLINVAR:339826 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63c7f8dc-957b-4055-98ec-80cac6aae174 CLINVAR:339826 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3f96971-3123-4adf-9c73-8b7bd996fcd3 CLINVAR:2752645 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2be824c0-25e0-44d9-b8c6-130518760058 CLINVAR:2752645 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31d7ec09-8e9f-4ccf-9b0e-6a755d54524a CLINVAR:2915634 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9327ad3-8b93-4651-a2ff-1519c26984b7 CLINVAR:2915634 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0b3c0ca-2ed6-45b8-b58d-1133b087cdef CLINVAR:1002392 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41e78ef6-8bdf-43bf-a6da-4ef7bea11534 CLINVAR:1002392 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb800ae6-1641-441e-960c-033ebdf6fa31 CLINVAR:2750603 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49cb550a-280e-4958-8b91-8970b2ade119 CLINVAR:2750603 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efa55622-174e-475a-847e-57cca0853e32 CLINVAR:962238 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7bb81080-71a3-4306-a3a7-53fc2e986c20 CLINVAR:962238 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee4dc638-fe01-4e5a-ba7e-e96d25c49fb2 CLINVAR:1002692 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 552158bc-2552-4303-9bd4-5abbfc511ad7 CLINVAR:1002692 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45731120-4278-4168-abe5-579bb633da87 CLINVAR:2715219 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5614c3e-92bb-4577-af64-bc40ad3209b5 CLINVAR:2715219 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1d33b39-26ef-4e76-8f15-43234d9d2c62 CLINVAR:1433502 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20278bda-e542-4db2-aca9-8e2e563c3b2a CLINVAR:1433502 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8bb295a-36e0-4a56-9eea-6a7eae432050 CLINVAR:2887997 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a375efd-5c07-4221-9394-9f7b2955ab8f CLINVAR:2887997 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5621244e-d7ee-4d90-b5e0-ab417bc6357e CLINVAR:2810497 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 97b5265d-3378-4aed-9358-b8ddcd441218 CLINVAR:2810497 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3a1e1f1-9b49-4400-8585-b73010dce354 CLINVAR:2965488 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c353d2a7-2d32-4649-9b00-59317ed14903 CLINVAR:2965488 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27afd36a-9766-478b-af62-fc3c05a28126 CLINVAR:2738452 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3d0108d-9f21-4b6d-aefe-5e1801ceaa1c CLINVAR:2738452 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23bda496-13bc-42d2-9001-47da22c8b1f1 CLINVAR:962783 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78a565f7-4a26-4cf3-be22-7b47f73342f7 CLINVAR:962783 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22e09a05-9d08-44f5-b096-9a380e5781ca CLINVAR:2397690 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49ff3b25-e735-4d91-8e27-f5b9e4c10ca0 CLINVAR:2397690 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4f17d84-c2e0-4ee7-9d32-64a5e62f9db1 CLINVAR:1018236 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b93a24af-b5c0-4a6b-88f6-c98798ae67f4 CLINVAR:1018236 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf03ac56-966d-4aab-b1bd-0d154a50a449 CLINVAR:2113692 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d53ba852-6742-48cb-8e2b-9de50805d537 CLINVAR:2113692 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fde0069-c1dd-4307-b904-442ed37f4bc6 CLINVAR:1036138 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7b0ed43-2cc9-4f29-a46b-bf0e6f18fea0 CLINVAR:1036138 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 055ca942-3a5c-4fb8-a2a2-4adca9b2ac6a CLINVAR:2067605 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf7444a0-279b-4a7a-b724-dcd05f231592 CLINVAR:2067605 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 896d7134-e884-496c-90b4-0b0ed0b9dee2 CLINVAR:1019366 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fc6869f-380a-42ca-9342-6e16630582bf CLINVAR:1019366 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed4f9fe1-f685-43ea-9b38-4a2ab9a88bc6 CLINVAR:944258 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fcf7a9a-1d4e-4cc2-a0b2-41e865d0ae05 CLINVAR:944258 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31f54d38-de59-45d1-b738-f3fc05c0914d CLINVAR:3240393 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9dcea47b-87bf-4226-890c-9fc10fd87f47 CLINVAR:3240393 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c8ba08d-996e-4029-94cf-403370a1f41e CLINVAR:1056713 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c60648ff-dc0a-4883-bdec-c3e90c45650a CLINVAR:1056713 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ad4d86c-a951-4f39-8f2f-846ea6c8e117 CLINVAR:1635761 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 593062fa-aea3-4e17-b900-8e9a0068fd12 CLINVAR:1635761 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaebb145-6b2f-4d7e-a53b-685d4cc513bb CLINVAR:3240388 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 487f4230-eb93-4ac8-b17d-6861ab2d781f CLINVAR:3240388 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c3ddba6-591b-4088-8dae-45ba7ae53758 CLINVAR:2770886 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1290248-14f2-46cb-9654-a2c9689a1288 CLINVAR:2770886 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0929e427-3db1-43df-9874-f06b628dabec CLINVAR:1010308 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb7bbe36-c145-49b4-b428-695958131092 CLINVAR:1010308 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fff317a6-af25-4064-b28a-a95c0957e341 CLINVAR:2850038 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4bd207c5-3413-4bbf-a6b3-59fa8351ee3c CLINVAR:2850038 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b67b73d2-e69a-4f54-ad9f-c97ac818751e CLINVAR:2823312 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 806d4280-a27a-466b-8c7b-10c740d4e157 CLINVAR:2823312 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d388dac-7ba2-4466-aa68-e753ca1a3766 CLINVAR:1037280 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e3f7bc7-305a-4036-b8b1-0e4ea43198f4 CLINVAR:1037280 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91bde2fa-5e18-45cd-9d6e-3a2373c93457 CLINVAR:2714614 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42f2c462-433f-4ea9-ae60-a51c18b470e4 CLINVAR:2714614 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0191ac49-ca95-4868-8db9-d8d8389a1c4d CLINVAR:850021 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e3eeb0e-44e9-4b5b-b753-9523b1e25f4e CLINVAR:850021 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 309cb1e4-794e-489e-9ea3-ace47f26e1b3 CLINVAR:2805569 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7248fc8b-4760-48ed-b7f1-20c982d5cdf7 CLINVAR:2805569 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8320b5f1-6ac5-40dc-85c6-6662e15105fb CLINVAR:1004142 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b273756-e64c-4c4f-9dea-6cd80e817128 CLINVAR:1004142 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 171b6880-9e6e-49a7-b57b-cdf04de257d7 CLINVAR:1043154 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c309063-2972-4bab-b7c9-808844d8b2d4 CLINVAR:1043154 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57dbc6c6-3d8e-4805-b243-2b6e2630e9f1 CLINVAR:1996609 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 784582ff-2632-4c9c-a049-9010c92f09dc CLINVAR:1996609 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc0ba5fe-83fc-44df-bd2d-34eb36f9ae8c CLINVAR:1039682 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38b1e4b3-97a3-441c-98fb-aeeedbe0e282 CLINVAR:1039682 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d176c49-910a-43a0-8b65-04c2ee829ea6 CLINVAR:2996309 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5cb4945-65b2-4d1c-bb3f-37515c59c93b CLINVAR:2996309 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a03bc83-1fc3-466c-9e46-a499d186cb67 CLINVAR:2717142 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61a2fc65-8ec0-41a1-960d-6cd006dbf79f CLINVAR:2717142 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bacba12-d6e7-432c-8da4-1a74e13fcd47 CLINVAR:2717108 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed8bdde5-d37b-4c5c-a3b4-c5f244c280db CLINVAR:2717108 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0947b6e4-648c-49ee-aa08-cb8a76ec45d0 CLINVAR:2678497 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc37fcb5-31aa-423d-8f03-89b53a6ece5a CLINVAR:2678497 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58b6e74e-92ff-4454-bc53-e2c74fa701e6 CLINVAR:1945048 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2880325-b5e6-41ff-8696-cba8e1c3e425 CLINVAR:1945048 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ac372b5-edf4-4aff-beb0-798a4124c994 CLINVAR:2822749 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2ed4dea-41a3-4999-a7f1-fe9171ebc15f CLINVAR:2822749 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a540a27-df18-4423-a72f-479f355f5dd0 CLINVAR:936854 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d0fcb1e-4e94-4bc5-859a-ee749cdd3f11 CLINVAR:936854 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3859433-335e-48e3-9169-9489c1ffac42 CLINVAR:2863363 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3bc1f75-b2e8-4d84-a25d-49ec18486d10 CLINVAR:2863363 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b9bb2fb-1ab3-46ea-90d0-e8b43c6c7ab0 CLINVAR:2091961 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c323a3c-2e3b-4847-b086-4da8880a121d CLINVAR:2091961 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a575d72-580b-4bc2-8419-525de08fe9c7 CLINVAR:2866349 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89ff8e93-1ea3-45f7-b38e-99636df4c51b CLINVAR:2866349 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f82903e2-a5aa-4a20-8601-ba0f4bf2e93b CLINVAR:2718922 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6419a8c1-ee9c-4bbc-bbfc-3c0d63b1fb30 CLINVAR:2718922 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a0f1e09-451a-4661-a84f-983ae285d20c CLINVAR:2912549 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5194554f-bfee-43a1-8d0d-1309a6ffac31 CLINVAR:2912549 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bc05537-edbf-4954-a679-697e90ffea41 CLINVAR:2799969 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 90e3628a-380b-4d44-859f-9de1c715b453 CLINVAR:2799969 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e37a6a95-8236-456b-a6d8-db39520cf45e CLINVAR:2995907 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa4146c8-f9f1-4323-8b4b-c1216279f01b CLINVAR:2995907 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 801b51c2-8b08-448e-8626-6c514b4a0e4e CLINVAR:855262 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d9e1952-4a71-4fb1-9634-ade66988a7ef CLINVAR:855262 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 927e6290-4208-45b8-bfef-cbc736312dad CLINVAR:1508015 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8b9ce1d-a29a-41be-9585-09b8089d17d4 CLINVAR:1508015 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8896a179-2c04-49ae-b8c5-1e4463e66850 CLINVAR:464010 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84f59362-cd1e-4b83-bb5f-a32c0274c52e CLINVAR:464010 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73b0eda7-5844-4e6a-847f-286a03a7a6c8 CLINVAR:463978 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3284e4c9-e502-42eb-b6e5-359cc212ab07 CLINVAR:463978 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d295e309-77a5-497a-8820-02e4fe2ca689 CLINVAR:2201687 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae086bc6-aec0-4411-8583-7dfcb1df99d5 CLINVAR:2201687 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22c933a3-be7e-43b4-978f-3aa1fe8ee083 CLINVAR:2198524 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7355ee4-3b0b-4891-b4d4-ad59ba98b51e CLINVAR:2198524 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f5c4965-79b7-4703-93e8-12bd4580ddf2 CLINVAR:2163488 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f801521-a5b1-4490-bee4-62d31cf5b3b9 CLINVAR:2163488 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0c08d58-0262-47aa-9b13-730813c2a16d CLINVAR:2161020 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c2f5130-21c3-4804-b751-f5ec4e9975c5 CLINVAR:2161020 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 285531b0-0cf6-4e08-a94e-f2db3e71fc15 CLINVAR:2156664 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9838142-fcd4-4280-bf0f-0c6c9f3aa29e CLINVAR:2156664 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdde91e4-8673-4ca8-b766-a27c88097737 CLINVAR:2834944 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3f2d564-dbfb-4dad-aab9-38f2a04ef628 CLINVAR:2834944 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80dd4324-b1f2-4d39-8405-f0e4cc73daa7 CLINVAR:898914 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b991c138-0224-4b30-b525-40445a0525d1 CLINVAR:898914 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab1a324c-c542-4c80-8161-e555a912f126 CLINVAR:1479269 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12d7715c-2832-4014-981c-0a580118c232 CLINVAR:1479269 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14e49571-a7b9-4f5e-b3f1-926358644ed0 CLINVAR:1025603 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da9ad80a-68f3-4be2-bdaf-5383cf1e385b CLINVAR:1025603 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25e7868f-7015-4f65-abe6-abfadd5d46f1 CLINVAR:2099170 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dfba38ef-10f0-4b5a-b4e1-13fbae15198d CLINVAR:2099170 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a79190fc-4cac-490b-b07e-892b45ddaf12 CAID:CA410202527 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f2d19c1-8f5a-4f25-8c73-f378d26a892b CAID:CA410202527 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a5b6d13-d8c6-46e8-9056-b0f6e062e155 CLINVAR:2268033 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74dab924-9a09-4193-9981-e7afc8b64ae8 CLINVAR:2268033 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4f32129-8c6a-4b44-82f7-9c1568988992 CLINVAR:1547462 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62d9667b-e9cd-49db-ab3d-a9ad30d677de CLINVAR:1547462 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a92bb33-0346-4210-aee2-9e00c261f5e6 CLINVAR:2761026 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2696f782-3396-4512-b932-d36b7b137e11 CLINVAR:2761026 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b980961-a65d-4e57-b1c3-4d46770b63ed CLINVAR:2805962 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b843fd0-1dd7-40a3-a2ba-4ad9742cfa59 CLINVAR:2805962 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8498d70b-c71a-4be8-a99a-cdc9196c093d CLINVAR:2769230 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 844c99a5-be11-4fea-84ed-d23ff25b83e3 CLINVAR:2769230 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5abcbd2e-14da-41ef-b113-aad6cf5726d2 CLINVAR:2633656 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 21f22494-1d3f-4aff-a6d2-1dabdcb4aa94 CLINVAR:2633656 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 681ec17e-468c-4b5a-bcf1-bb3c058112d5 CLINVAR:2443682 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9070af9a-1f84-46b7-be5e-b79eaac1f89a CLINVAR:2443682 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85ffb320-e548-47dd-b897-f29563ac1e9b CLINVAR:2108059 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba21c5d0-6e47-421b-b3b7-6af3646843c0 CLINVAR:2108059 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 175fd6af-3e29-4498-b8d8-9cb75b6304ba CLINVAR:2580053 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1e92ca6-9934-4a87-be85-4be14de9e4de CLINVAR:2580053 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83fab2a0-37ac-41bd-be4d-2cd965e013d9 CLINVAR:3068220 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c72b32d0-4ce4-4335-924d-d1d0e02ffb51 CLINVAR:3068220 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1780e1b2-ca3e-44ff-a4ad-01e1a5421046 CLINVAR:2628467 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0b6cffb-7965-4a56-ba8e-364476c18dc5 CLINVAR:2628467 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6bcb95d-333a-4808-b92d-f8fc6c2ebc88 CLINVAR:2910839 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b54b504-0d93-412a-a70f-622fd6b98ceb CLINVAR:2910839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c47ed86-166a-40dc-a993-1869b476c9fe CLINVAR:1040026 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4dc469b1-5dad-48d0-9ebd-0e74e4a20203 CLINVAR:1040026 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a83cc08e-4be1-447a-a04d-a3fac175433b CLINVAR:2126813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 257ba9d0-705d-41b7-aad0-ad278d7a1533 CLINVAR:2126813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12d9d31f-baee-4392-8caa-5dcb0308f44e CLINVAR:409808 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60eb0539-a844-4698-b36e-903947c27808 CLINVAR:409808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ccff9b4-bf8e-4c90-8af9-d8ed03fa24ac CLINVAR:1012104 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee19f666-fe84-403b-acf7-551d5a42bd0b CLINVAR:1012104 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6ccd971-ddc4-487e-9aba-acc1b797d231 CLINVAR:1466051 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 30349391-696e-4835-90c8-6713f7a7200f CLINVAR:1466051 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64862aa9-b1e2-44f0-82c3-8722f2ec1dab CLINVAR:856798 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5a7c81f2-91f6-4828-8f41-2e1799b7d491 CLINVAR:856798 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9820868a-20bb-4365-ab71-675428c408cf CLINVAR:1684391 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 21361311-6735-4932-8e4e-9482e65b1bff CLINVAR:1684391 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c20cf67f-cc07-4f10-9ea4-a35acf4d9b25 CLINVAR:2091067 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 110ea793-fe02-43cb-b4ee-ce2ef326d4be CLINVAR:2091067 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66d0d302-c2c4-4330-8aea-b3af441a34f2 CLINVAR:1439261 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 206ca9ca-91e8-49d8-af43-65d83a852fdc CLINVAR:1439261 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85fe4446-3c56-4a77-ba56-9cfae9e38a2b CLINVAR:2678492 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ed911ab-0c92-4185-a70a-36eccd153cf1 CLINVAR:2678492 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8618f4b-9cab-489d-911f-70813313063d CLINVAR:2023119 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 287426de-886e-4e95-945c-57454e10c2af CLINVAR:2023119 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0fb5e35-fca6-4b52-8c3e-3e56502e3325 CLINVAR:2767710 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ad9e63c-a07b-488d-a05b-7dbf0880cd4a CLINVAR:2767710 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb71c048-0054-4483-aa25-ab5f67d2a545 CAID:CA410148836 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 247f9b98-7a3f-485a-99f8-966a03321a14 CAID:CA410148836 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e07dfa0-953e-4330-9c10-b30814ac452a CLINVAR:2697219 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b69ee1c8-b596-4f8c-bf6c-5dd1b6f485be CLINVAR:2697219 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5d142df-9f07-4dbe-9257-1681d9ec4292 CLINVAR:440678 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e722eae5-72d8-4e72-9102-41c460ed8f16 CLINVAR:440678 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d93bb28-65dc-4413-a5a0-c6339c2e9119 CLINVAR:252213 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 42a2a62d-9489-4042-a54c-944b9ce49710 CLINVAR:252213 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6ce479e-91f4-4cc2-a546-c60ce9130386 CLINVAR:375833 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74584964-7ec7-4e71-a542-a1a6fee6c83d CLINVAR:375833 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5144ecd-282a-49f6-8e85-82985409b974 CLINVAR:183132 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 350edb74-7ebf-4905-89bd-1967268b1da0 CLINVAR:183132 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b1b6e2d-710b-41ce-9b70-6cce67a7078d CLINVAR:250960 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a99cff9c-ba45-4d71-bf5e-d34c7b71d714 CLINVAR:250960 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1be1592a-a79e-480c-bbe2-d0636cb4629c CLINVAR:440624 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7816e949-254a-4c96-8399-9c45e57ebefb CLINVAR:440624 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f03abc55-cf00-472f-973f-6fa96e8e8fd7 CLINVAR:523715 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26dfbc7f-58c7-47b4-ac4f-7e3455783892 CLINVAR:523715 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e1dd536-db73-483c-a339-4d1354a62989 CLINVAR:251853 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3990fa81-d45a-436b-8dd8-79bff5721ebd CLINVAR:251853 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31d90622-5eed-4544-886a-db9f7cd97436 CLINVAR:251852 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34f0dead-35ce-4ec6-93ce-11aa571eae95 CLINVAR:251852 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cc48bf7-d1dc-4ef5-a567-da08deb113db CLINVAR:252269 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd50cc28-5826-4ae0-aeb8-08d7f1026818 CLINVAR:252269 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d3f8234-5330-4483-953d-e9bc0488c9d7 CLINVAR:252267 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c45e5b97-76f4-4b18-a4c8-6fdfb9e11b21 CLINVAR:252267 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 800ebe9c-f885-42bd-9efa-d0b2ebf024a7 CLINVAR:68099 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0fc5cb8b-d73a-45fb-9cfa-e3aa9ef8679d CLINVAR:68099 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 780aaeec-9920-4d94-a493-83594ff70a83 CLINVAR:251037 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen caf0de80-7c8d-43ac-b55a-ed60c4ecc8f8 CLINVAR:251037 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19ec62f9-ccd4-4404-8007-edb85e2ab02f CLINVAR:425706 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b682923f-546c-4647-bd0c-d4bfe250e9ac CLINVAR:425706 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e3858e0-5c07-4f97-b6a3-27608593c4aa CLINVAR:425707 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1415e1cb-6278-4aaa-9139-2a68b117600f CLINVAR:425707 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1a654a8-c2cb-468c-a62d-2dbecafa578b CLINVAR:425906 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1fe529de-781e-45e4-b9ac-48ac288f7845 CLINVAR:425906 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76ac31a1-36ee-47f7-b648-207773b26982 CLINVAR:933084 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b21f9430-ce47-4a56-b144-68398e4e646b CLINVAR:933084 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 145134a2-c072-42be-a437-3502fad3431a CLINVAR:412136 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2262bc65-d3db-40ac-9f18-28267c972606 CLINVAR:412136 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a790cf4-0684-4e21-abf4-6beedac514b8 CLINVAR:937744 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d03f53d1-e72f-4f95-9811-801bb0339e30 CLINVAR:937744 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66bb06b7-4806-4566-867c-cfe16be4199e CLINVAR:479637 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b215996d-7247-450d-bbcb-171fe92fb924 CLINVAR:479637 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 629bb98f-e533-47c2-9c14-0cb137f1a4a7 CLINVAR:479642 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2baa0169-321f-4e8e-9ea9-90d1bb4e3caf CLINVAR:479642 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07459acb-4bad-4448-8d89-a8899eb76b70 CLINVAR:854954 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5dc63431-29ec-4f36-b836-575998d4854a CLINVAR:854954 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86eb873c-3da2-4146-a712-884461d633b9 CLINVAR:92270 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8e80e1b-7d5c-4dbe-abea-a4ef27a3da51 CLINVAR:92270 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34e97be0-72de-4983-b0bb-8add111b4fac CLINVAR:1336989 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a484f3d6-d96e-4dc6-9045-471f027d74da CLINVAR:1336989 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0d45381-0e72-48b5-aaf4-702e725cb434 CAID:CA409108333 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0917c859-37f4-48cb-8496-1d290ef063fb CAID:CA409108333 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a1a7d52-6a1a-4ffa-a0fa-9b237e761989 CAID:CA409108330 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a37697e-3a94-47c4-94a9-1e6cee6a562e CAID:CA409108330 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce09aebf-1e33-4246-b384-99e6f7cfdeb0 CAID:CA409108715 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 79cf99fb-b117-46cc-8fcd-04e7c5ad80d9 CAID:CA409108715 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82d2cdb6-850f-4de8-9c95-f9780b250c8f CLINVAR:1700658 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c03cb2e7-df3a-4098-a805-ad55ec61ce24 CLINVAR:1700658 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be6f586a-60e5-45a6-a37f-0b61749459d3 CLINVAR:338422 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afeaf361-9ee3-488b-b7fa-413d14c76581 CLINVAR:338422 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 657fd89a-3f20-4bfa-bd31-784f5143c0c7 CLINVAR:447519 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbf23d35-f2e3-4bb1-9cdd-ba4de9e331a6 CLINVAR:447519 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ce8baeb-8686-4ea7-af41-1a7136e843c8 CAID:CA409108257 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0522a23c-4afe-412f-8f70-5879f70c3676 CAID:CA409108257 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a065dfab-835b-4e85-9877-12a82a440a80 CAID:CA409107449 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c85fdda-5977-4132-9f43-af6945c6849e CAID:CA409107449 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99b33220-3f19-4fda-b31e-dbd8c79baa52 CAID:CA367400147 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eba170d5-1db1-4bde-bb43-66e04308a459 CAID:CA367400147 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b641f9ad-a8a8-4111-bf84-471a9515e4a2 CAID:CA367399714 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 898ea2c4-ce09-47c6-b4cf-f208bb8e9df6 CAID:CA367399714 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9e5f6b6-6447-4393-9ba5-6c91afd037a1 CLINVAR:585929 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1335fbf-4118-45c3-928e-1b79d41dd37e CLINVAR:585929 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55374e51-4c8e-46a8-898f-f448d8237374 CAID:CA2695202957 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad2831a5-19f3-45d2-98d9-c7379bd9f14e CAID:CA2695202957 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 494de7eb-3d17-4b1e-9c41-df92d7468916 CLINVAR:3602130 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 126e0752-a707-4be2-9431-06c3e73824b8 CLINVAR:3602130 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b482c26f-bcd3-4fba-b05b-2b493d639826 CAID:CA367401330 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3540d4a-5b55-415a-bd06-f107cf7e8ff3 CAID:CA367401330 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e68f293-1d70-422f-b2fb-da6d05a516c1 CAID:CA367401332 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8bd83e2b-1f24-4ece-9878-64457d6f2040 CAID:CA367401332 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f12d6cb1-0a3f-4cea-81ba-e3e659aa156f CAID:CA367401327 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aaed15e4-1909-4d18-869a-9cee69e8ef65 CAID:CA367401327 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4895bc90-ea2b-42a1-8104-d882a8b2fcfc CAID:CA386960233 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9cb8556-117e-4576-b4d4-7444c809d740 CAID:CA386960233 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5a88644-df52-4590-b5bd-d3cea6cc11f6 CLINVAR:1317657 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a3f948b1-0f83-46c5-871f-b38e2e99286f CLINVAR:1317657 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61211bb5-069a-4d6d-b58d-9c512ce19cb8 CLINVAR:1807441 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a78f619-a69a-4a92-9a3c-08ff20a5e880 CLINVAR:1807441 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c0c25c0-9094-4c5e-b940-f13c7131ccb2 CAID:CA386960365 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 535002cf-985a-4fb7-be97-d6649cbea125 CAID:CA386960365 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 788a48c1-6184-4b1f-b2a6-afee82a07a58 CLINVAR:1338456 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a796255f-7384-43f3-81ad-c52661d021e0 CLINVAR:1338456 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0f9acac-d73f-4fed-98fc-88244881dbfe CAID:CA386960575 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 19764868-7fb9-40a1-915f-670a9a1feea4 CAID:CA386960575 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcd4d469-0f90-413e-aa87-151414e3c430 CAID:CA2580612112 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ed11820-de4f-4520-93cc-d0c19fbb72b2 CAID:CA2580612112 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e96e6c6d-e017-49f9-af0b-755d1458514c CAID:CA386958912 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d2b156f4-2984-40f8-8fe8-480963905b50 CAID:CA386958912 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fb9f1b2-c56b-4a8e-8630-8ab7326cfa35 CAID:CA2580612109 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e39ef52-5508-4e29-be7e-0399b288e252 CAID:CA2580612109 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0f69287-5e49-4a7d-a38c-060257d6fdc3 CLINVAR:586791 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f61fa69b-9a7d-4931-8a4c-92788ee35697 CLINVAR:586791 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4131c0f1-ca0f-42c2-b23c-cc5d7a4b471a CLINVAR:92301 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d6c5e134-a93e-4dee-b421-253cd526f05f CLINVAR:92301 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec5ddab6-4d4d-49b6-9831-58d438d552ad CAID:CA347215735 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b463b6c1-2c10-4af9-a685-3def0ea5b5e9 CAID:CA347215735 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 721a47ed-7185-4651-bee4-437ff9cf3211 CLINVAR:596790 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen abcdd226-c912-46b3-8166-30c92a23df82 CLINVAR:596790 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03c13a72-9efe-4c8e-938f-ad79ae6a28d0 CLINVAR:98582 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3b9f034-ee0c-455c-8ca1-989596a218cc CLINVAR:98582 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da77a38f-da3e-4943-9452-8e4948a7b0a7 CLINVAR:98610 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 64cc0602-7bee-4c1b-bd0c-a15a7189d253 CLINVAR:98610 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63507c89-d3b5-4fe6-85f8-cecf5263d7a2 CLINVAR:560463 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7154e92-6c56-4967-a76a-1d211a8c67bf CLINVAR:560463 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc9325f2-f63e-4a71-90b1-6929c56c0c53 CLINVAR:2137915 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 70a6050a-72fd-488e-8c96-2b0e6f6e8abb CLINVAR:2137915 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37b8b316-891f-4cb6-87e4-71fd60f51fb6 CLINVAR:423435 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba5a9395-cb56-4cf1-ac4a-a9ff2a9e8363 CLINVAR:423435 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b579d824-9f89-4cc5-8980-36336444a0b2 CLINVAR:859216 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68358f9e-54bf-4cd7-9ba4-2086e76fc234 CLINVAR:859216 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e3cfc3f-fbf3-48aa-a687-52e1e3d1001d CLINVAR:1001416 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d863f699-5638-4af8-bdbe-de9484f7b094 CLINVAR:1001416 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 071fc269-5e65-4c03-93f1-f09b43a86008 CLINVAR:198055 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 813f18b1-bdf8-4505-b367-b03c7667ab6e CLINVAR:198055 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 341d8504-f05c-4aa0-83ec-ca2d713ede75 CLINVAR:803314 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d53c156c-4efc-4a6a-b5d1-61d919490161 CLINVAR:803314 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a5440a4-78ef-4049-8278-ce76e68bad59 CLINVAR:98546 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2d05c00-5b4b-471b-ae4d-48bf72da87cc CLINVAR:98546 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02ba391f-e2d6-45ee-b1f9-ddafefb7e58b CLINVAR:98555 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6513773d-a1d1-4226-80bc-4ec7394fefdd CLINVAR:98555 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d305e74b-30c9-49ef-b04a-3be49f719ce9 CLINVAR:974639 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 441461d1-ad0e-4839-90bd-08b0077aaa7b CLINVAR:974639 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d353b050-1932-4e00-8a8c-4da13df8e7fc CLINVAR:98611 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24fd320f-3fbf-4e3c-b3e3-da57da69e229 CLINVAR:98611 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e119546-d803-430c-9d0b-e15a296fb071 CLINVAR:1445009 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be4dd18a-e6ea-4a5c-8ffc-2467f4e345e8 CLINVAR:1445009 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abbaa7f5-ede4-41e4-9d18-88ff4edf829a CLINVAR:98584 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 76a2ebf6-4ead-4231-8063-3c3df224065d CLINVAR:98584 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2f0b186-de7d-4032-aa29-c100beae82e2 CLINVAR:974655 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 18b8defe-16ba-4b55-a954-3b24709d50a0 CLINVAR:974655 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c807b1d7-3275-4319-a854-85394940c22d CLINVAR:98590 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6076b184-0f53-43af-86c9-c10dd7142eb2 CLINVAR:98590 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcabdb46-16e5-4d20-9af1-06614035e41f CLINVAR:98581 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e9821d8-d4f5-4fbf-90e0-219a40d09379 CLINVAR:98581 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcf6892f-6a3b-49b3-a470-710cdd720e71 CLINVAR:98536 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d95f54f1-9967-49e5-ba6b-64170bfdc338 CLINVAR:98536 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0507e572-f781-48bf-85b5-be87673a78c3 CLINVAR:9350 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8e6171e-3dcd-4f8d-83f8-3345781fcc86 CLINVAR:9350 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b325aee-9639-4dce-93dc-cc75a24bcd54 CLINVAR:638494 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2465c59-4697-47a3-9b5d-3c459c58e699 CLINVAR:638494 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6cd8a5a-f627-41aa-ba71-90df9993b4d1 CLINVAR:98563 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d142a264-4a89-466b-b57e-1e6d8d6e5184 CLINVAR:98563 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfa37127-048d-4b2a-abe8-128192918354 CLINVAR:866048 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 50c74626-203f-4f23-8b5b-55e2880e84b9 CLINVAR:866048 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bc6bbfc-d081-4976-beb8-6c2ee05b2fc5 CLINVAR:98603 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8595e0c-7261-4b2e-af30-b6fae358a075 CLINVAR:98603 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84a417a7-dd50-4771-bece-c6617283cf1f CLINVAR:98602 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4decc88c-14ff-4e71-b1e1-2ce47e8f316c CLINVAR:98602 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a12d0cf7-fe4d-4387-9823-71e4d48448f4 CLINVAR:803313 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 616d088a-8e15-451d-91bb-96da74758394 CLINVAR:803313 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9399fa8-7dbf-49ba-b746-0aca83c8c1c2 CLINVAR:98562 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aabae5c3-b76f-4d45-be44-c424dea67028 CLINVAR:98562 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d46afbc6-a937-47c5-ae2a-1694aa0c2278 CAID:CA8365937 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5bdb92da-caaa-4ca3-a620-f83477a343b4 CAID:CA8365937 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dd78c56-1f8f-4c50-baf3-5055109665ac CAID:CA397954516 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d261c6de-c87f-428d-8b9b-dad547898c08 CAID:CA397954516 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7224ce14-e026-4562-8501-a6068bf49163 CLINVAR:581095 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6a30f35-44c4-417a-a579-d19f2bdefe76 CLINVAR:581095 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d3fe2c6-9a3b-4502-9923-33140f0d2cc9 CLINVAR:808220 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c42459dd-ed50-4e81-8f76-d59796d19771 CLINVAR:808220 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 996de7c5-6d6b-4773-8f10-af8f02869b22 CAID:CA287523530 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1bf877b-c67a-4ce9-85e6-720569a3bd11 CAID:CA287523530 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7396a147-c054-4266-bb71-da6d83879c45 CLINVAR:587413 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15cb91a3-caf9-4883-abea-3794769f97bc CLINVAR:587413 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9af8f39d-4cc4-4a31-ba80-21ccc12c2464 CAID:CA397954276 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d72f0d8a-6a8a-4ad5-abdb-9a06adc7b949 CAID:CA397954276 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fd9a3fa-5a15-48b6-9531-fec6b0d8626d CAID:CA2695224294 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81a9bb26-64e5-4010-b2d2-456418426b46 CAID:CA2695224294 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fc70da1-eddf-4efc-953e-b3495d35b1be CAID:CA2837582288 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03f3958a-ac19-4053-96a2-28a431dd009b CAID:CA2837582288 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1b56efe-29c6-40a6-ada0-6a2a2f8bf94f CLINVAR:861651 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5211cdc9-6f32-4860-9689-792fac39f035 CLINVAR:861651 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6997ef1a-7da5-47f8-a2e4-37a4b6132831 CLINVAR:98609 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1668fd71-85f7-4ce9-98d5-9e54fa40219a CLINVAR:98609 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dcf64f3-6369-4c3c-857b-5c4d45cea91a CLINVAR:98540 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 827bc181-5786-474e-9ea1-a4893ecaf2d5 CLINVAR:98540 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30d26a6b-7673-4821-9173-f7ac1c89c062 CLINVAR:938393 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03e5bc5a-a1b1-4635-924e-f3e42df94c42 CLINVAR:938393 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40658933-1614-4b86-ad54-f3bc8992ebc1 CLINVAR:689384 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 50c1c9ab-1c81-4af4-872e-7c1fa240d81c CLINVAR:689384 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fbf69b7-f97e-42b8-ad4f-a6201b6debc7 CAID:CA2695224281 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d8d4f42-6825-4561-8bbf-cf7cf574bb2d CAID:CA2695224281 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beda049f-09ec-483e-a72a-cde7ba411ee9 CAID:CA2695224312 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 46b03643-b0a1-407c-99a5-cf261a0d21dc CAID:CA2695224312 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c82df83-58eb-4c0a-a89b-c3fa097fc28d CLINVAR:665724 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 057e2c2b-0fe7-435a-bf05-561e9aa5f29a CLINVAR:665724 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ef9cac7-40a6-4627-bb3a-b1b8345ece08 CLINVAR:250928 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0a4a95a-f014-4b59-9c9c-aadd7d65d188 CLINVAR:250928 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a90e6c8-d0ad-4df5-9bcf-ed104d9d8979 CLINVAR:251792 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78c53283-4f7c-45ce-b169-8d7e48b7f846 CLINVAR:251792 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97c7df6b-3674-47da-9205-f6afe39a4fcb CLINVAR:251793 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 217c6e4e-28fd-484b-bd16-972475890482 CLINVAR:251793 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20fe39ad-6dd6-41f6-b48a-c1dfbe68196d CLINVAR:998052 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ad58bc4-56e7-4f8c-bc95-9529d5d7d1b2 CLINVAR:998052 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6bc3ff8-6337-443f-ae82-b4084cab83b0 CLINVAR:251790 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c197bcf-3d2e-4297-8cec-fda6f7f44cf9 CLINVAR:251790 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd94bddd-aaff-4176-b39c-b2397ece7386 CLINVAR:100287 biolink:associated_with_increased_likelihood_of MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 03d99a7c-b364-47bb-9965-453d7c63af83 CLINVAR:100287 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b718b2b-4669-4fe1-8f00-36604fd09ddf CLINVAR:313 biolink:associated_with_increased_likelihood_of MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d327a08e-782f-44e0-8aeb-6eb6f6515dde CLINVAR:313 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c07a9a0a-92d6-4f62-8157-b0d10566c3d5 CLINVAR:317 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6278783-12f6-4733-869b-c1c5840cb24e CLINVAR:317 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f823c037-4a18-428c-8e4c-a2441689e1d4 CLINVAR:1684007 biolink:genetically_associated_with MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41f9ddee-ba3d-4287-bda0-a4d0196b053c CLINVAR:1684007 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73b2ff70-af6b-4cad-a70b-5a397707ba5a CLINVAR:100305 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c67f4c02-06ce-49c7-9ec6-97926622cdb2 CLINVAR:100305 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 204c443c-6ab0-47cd-a600-e00a2b05592f CLINVAR:292 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b405ca08-19ca-4c0a-b5e0-bc7f08453ae8 CLINVAR:292 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63943094-4dea-4347-9f66-d237693fda4c CLINVAR:251826 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08ba7d39-4c5d-4520-865c-976cdf114f18 CLINVAR:251826 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61fc5e2e-893b-42e1-b2f7-80e994342ca0 CLINVAR:251108 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e32f8461-a537-4dd3-9474-d084996c5fb3 CLINVAR:251108 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 569f1c8e-a04b-42f0-896e-53d18053d07f CLINVAR:250944 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae4e47d5-be2b-4f11-ba4e-f4462f1a20ce CLINVAR:250944 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad81851a-982a-46fe-82f7-46937c310426 CLINVAR:250964 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b6a0da2-b7e1-4c9a-bef8-936bcf9f9cd0 CLINVAR:250964 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ad2311b-c766-4c25-bcab-399f65345ccf CAID:CA397319701 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 550c18e3-d5fc-4441-855f-950edf0f2a0b CAID:CA397319701 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d92c95e-2f21-4615-8c94-edf0ac30bc46 CLINVAR:585094 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05bd2119-e261-4795-845e-ff19db6b6a49 CLINVAR:585094 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec331624-a08e-4787-87c2-791d3b9a46f6 CAID:CA2580650458 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe6c5fa4-7fbc-4d38-9fdb-e11bde2420de CAID:CA2580650458 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0670f0d-9832-4cb5-b4ae-ff475b171bb8 CLINVAR:3690 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7863d78d-5d65-4c62-b91b-1808133a9f3e CLINVAR:3690 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 328bd1fc-74e6-41a9-9fd9-a278966496ea CLINVAR:375798 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f91ace6c-ed90-4927-bbe5-1739077cefbb CLINVAR:375798 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 225a88b4-cb84-4890-b260-727184d67d3e CLINVAR:252034 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe33f656-1876-4c6c-9224-2b099a9e331e CLINVAR:252034 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93098367-0c12-4bd5-b21b-e03de36d028b CLINVAR:431535 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 881ba728-53a9-49f9-8d64-b0685258a432 CLINVAR:431535 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9202a8a1-1c89-4293-9da0-059eddf84ecf CLINVAR:252140 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5fca8adb-c350-448a-a0d5-93b679398559 CLINVAR:252140 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 212acc93-13f5-4f9f-ab2c-b54e59c5a583 CLINVAR:252354 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 30327286-ca0c-497f-ad95-83186fbb3721 CLINVAR:252354 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bad99d2d-05f4-4837-9c08-32599c7537d1 CAID:CA410677511 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aa2a514d-98eb-49b9-a5b2-74a83879624e CAID:CA410677511 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d449cd41-bc3f-4524-b796-49e507d2c223 CLINVAR:1684369 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4434f469-abea-4234-bd3e-d46215faf9c1 CLINVAR:1684369 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f43a3b90-7165-4b35-b8d6-d2292b558507 CLINVAR:2137887 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f0bffdd-fedb-4040-a287-6c6d06e6f377 CLINVAR:2137887 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98c33b18-4566-415e-95ee-74f6dc278015 CLINVAR:435347 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf667772-7899-4adc-9a67-83833ff9cffa CLINVAR:435347 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 258c95f1-2027-404b-bbbd-c0c71ea9435f CLINVAR:1684365 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 62fb70fa-1732-4ae3-a68f-d86e735947ec CLINVAR:1684365 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a8e74d3-f059-4c11-907e-3e06b70114b5 CLINVAR:449564 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ed43811-d467-4e63-a6ab-0970d91c926c CLINVAR:449564 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7c1b916-2e41-4dba-aa6b-b8eca2c5ac07 CAID:CA397316321 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f4c16b1-f659-4cf7-9a96-593dae96389a CAID:CA397316321 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de9a3433-455b-4e96-a19d-c1ce4bd1a400 CLINVAR:1691251 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f172319-cbe2-430e-8f59-8ad1b3a456ed CLINVAR:1691251 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81db782d-8e05-4a74-baba-dfd0340ee0e7 CLINVAR:1691232 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94f31755-038b-401b-b5da-dfb5b61e495b CLINVAR:1691232 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7829d105-20e2-41f4-93da-68823172b560 CAID:CA410677679 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e77ca1bc-a86c-47f3-ba7a-663804517582 CAID:CA410677679 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9330e84f-3a03-47e7-87ab-1aac3220298c CLINVAR:1691253 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86d3b367-7eeb-4d86-a0c0-db9a7624f91e CLINVAR:1691253 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67db8fe8-00ed-4d08-8cbd-6a87337f6ba7 CLINVAR:1679210 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a2a1110-a7f6-436c-b2f1-04fe560c27ee CLINVAR:1679210 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be13a864-585d-4452-bd8f-9ce208d3090b CAID:CA322079952 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 73dc45c0-6ae0-4991-a70e-9f574ac36c35 CAID:CA322079952 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c05e8dc-061e-497b-bde4-3986c5ea78e3 CAID:CA410676622 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0087de16-8b78-4a07-b660-748c2de5705a CAID:CA410676622 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e95937c4-b542-4a92-a5cc-853425d56df1 CAID:CA410676959 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 57924b0a-4c4e-49d0-a2b3-a91457fa04d5 CAID:CA410676959 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e7d9f22-6239-43a5-ab91-c078a117af5e CAID:CA354447789 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c117c675-5db4-49ab-9287-17f6358707dd CAID:CA354447789 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 381b0f29-8d9f-45f6-a9ed-340de0c66dc5 CLINVAR:1691236 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 034a8c89-c34f-46b2-91ac-6bb2a765ee16 CLINVAR:1691236 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0d90cd0-dc0c-4ab3-848a-9c08b831efd3 CLINVAR:13529 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b8a15f6-abd2-4c67-a611-a84279cc1eae CLINVAR:13529 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 998adeaf-dcd4-435f-bd25-1ece1853ad6e CAID:CA658760369 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cb65c23d-9481-4fdf-bbed-52aa701c43c0 CAID:CA658760369 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 527d317f-4bb0-4fd6-959a-ef2e4f2a389d CAID:CA354446617 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e836798-ba98-42c0-b968-6a91a5a54599 CAID:CA354446617 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b63d451-d616-4d76-821c-26b20a969087 CLINVAR:627075 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d04c549c-155a-4e54-ac36-0d0d21473489 CLINVAR:627075 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f6468d4-1a75-4048-abf8-9ca8b8db878c CLINVAR:812970 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b97d2e45-31f2-4194-85a0-9404a328c547 CLINVAR:812970 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6137e563-5fa5-4050-a7fe-a2ba0af1694f CLINVAR:16038 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8df15668-9250-4064-91b1-8235dece3f9e CLINVAR:16038 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8e798ee-508d-4396-b846-d61f74332c11 CLINVAR:872581 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23b88605-116a-4aa6-903b-3e40cb219e37 CLINVAR:872581 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db7ca170-0fdc-48df-a3fd-a49761e7b9e7 CLINVAR:2736403 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d9016d21-6db8-4b34-8776-243963b4ce2a CLINVAR:2736403 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bc28da4-02e0-489f-ac39-0fd6e133b50e CLINVAR:523620 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bd7c2aaa-1cba-4ce0-aef2-c03a45641505 CLINVAR:523620 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ff06078-72bc-4685-b6c2-644d74e02e38 CAID:CA410676856 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 031ad76d-489f-4995-8312-966cca503f1f CAID:CA410676856 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f306eea-95d4-408c-8e72-4b48f7d39d40 CLINVAR:627320 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd2f8a6f-a586-4707-bbaa-a0367a001187 CLINVAR:627320 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c062890-a446-4a2a-96b1-affa0491839a CLINVAR:1691254 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ee1297bb-56d1-4111-af32-700b56f7b1a0 CLINVAR:1691254 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9df8dec-5cc1-4bca-88be-ded6756d6dfe CLINVAR:1342712 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc737e6c-5d2e-4963-8659-daac1f5647bc CLINVAR:1342712 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cae345b1-fb91-4e8a-8cd6-f5344522220e CAID:CA349036828 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 83d1bb21-32cc-4fcb-b649-92c90496e0f3 CAID:CA349036828 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69e05ac1-ab4b-4c79-bf58-012424b6b3c9 CAID:CA349036836 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0821f99b-4abe-48fe-8f12-45205084c136 CAID:CA349036836 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fc36c43-7fdc-4c17-8af8-c0c6b236a25a CLINVAR:383825 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 01da33ae-efa3-4eda-b3ef-39ba74cbd635 CLINVAR:383825 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18323724-c2f7-4c64-befc-46b22a44b6c7 CAID:CA343772421 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6026858-883a-4d38-9800-9feeeb55b327 CAID:CA343772421 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ece8ff0e-1f30-4143-8955-d8526859d804 CLINVAR:627231 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9fc1f54f-22b8-46b9-8679-8a963bfbdd2a CLINVAR:627231 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac00993d-7aa8-4ebc-9c51-9e08a37782d8 CLINVAR:1127805 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afa6507f-2cb1-4589-8974-1f5999821c74 CLINVAR:1127805 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b31f527-1b1e-42e5-b3d9-2a9310e76bc0 CLINVAR:18045 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22769078-8fcf-4db6-8fd8-adfb55d11ff8 CLINVAR:18045 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc2e655f-03b4-4c82-bcf6-82a27252f181 CLINVAR:440643 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a52ecff3-ad7a-4015-a505-b6501e96dfa2 CLINVAR:440643 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eed20b99-7976-4c93-9f90-574200257097 CLINVAR:992900 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84c27574-d4d3-4c53-8485-a2e66c8af43f CLINVAR:992900 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76532d76-54dc-4a9c-a210-3e67ffe24c5e CLINVAR:251840 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3fbfd8da-0dcd-4644-934d-84827165245d CLINVAR:251840 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 327fc2e8-1e5e-4af0-ab3f-a8bd6844668f CLINVAR:36456 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1af9521e-eb27-4cb8-9106-1d5e64d216b6 CLINVAR:36456 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2af728ed-dfa9-439c-b7e9-deb48f756938 CLINVAR:183113 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb0416a7-eca5-4bb3-9d32-673a095eb033 CLINVAR:183113 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bea71922-8b33-41c2-8535-9562fcdc4d47 CLINVAR:1078477 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0db4b36-e3cc-469f-8c0b-9f519d15a349 CLINVAR:1078477 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a886f00-bc6b-4f08-b8a1-0a0c0a6b434e CLINVAR:571484 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36089d16-aefa-4284-9d33-e332bab505e4 CLINVAR:571484 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79528bf4-9348-438a-a1f2-9fd1ded0ff9d CLINVAR:3157196 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 912c9dd2-0c95-483e-82d0-aefb1a9d0950 CLINVAR:3157196 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47fce21b-9b2f-43a1-9269-59ab0936364d CLINVAR:3368645 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9248129e-bcf6-4c1c-9f88-b4b2d6402d96 CLINVAR:3368645 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb078659-c36a-4e0e-86a6-2ba8e289056e CLINVAR:3342374 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5509d203-1adb-4872-b6ce-94396915abd7 CLINVAR:3342374 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b6f4429-66d0-4985-b855-21492bbf06f5 CLINVAR:2121324 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2604600-f80c-4a1a-92f8-edd4819b1972 CLINVAR:2121324 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01a985b7-edbd-4ce8-91e5-59803b48ec97 CLINVAR:3377307 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 213be8aa-736c-4144-bc8e-57e0172ff4c1 CLINVAR:3377307 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77cdb983-ed4f-40d3-a33a-e8da718f0dc7 CLINVAR:324989 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 72596c83-5660-427a-82e3-a9a62e4edd0c CLINVAR:324989 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b59eb33-acf0-4460-80d9-6ee7f4041873 CLINVAR:3240389 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3bf0324f-1af8-4257-a886-c0e3729e9439 CLINVAR:3240389 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 336c6a6c-902d-46d5-b41c-53389cb2d6e1 CLINVAR:898858 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f95ed337-5dd5-476d-8fb5-a186fa9e6de2 CLINVAR:898858 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29b726df-2fbd-4817-bd4c-78266ce5c323 CLINVAR:933316 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e22b29b6-8af5-4309-972e-d98dd9711bc4 CLINVAR:933316 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4b43895-2895-4377-b4f8-f3dff3ba36cd CLINVAR:3370796 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0973f9d9-9d02-4770-a13b-8f0019a78c20 CLINVAR:3370796 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85bc049b-6c2d-4f42-b8d9-c2645932b949 CLINVAR:3003823 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0164abd-55fa-4612-b3b8-b8186cfd1338 CLINVAR:3003823 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b5ef0c3-02b3-46a3-9f20-4f285b514920 CLINVAR:1477479 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5ddc081-bed2-4865-9385-6521fddb0f9c CLINVAR:1477479 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23e8b75a-8868-4eef-85dc-b5ed02df58be CLINVAR:1012031 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54ca151e-e6f5-4bc9-ad08-4f5aa42691b1 CLINVAR:1012031 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c9feca0-3eee-4884-be0f-43c87cb7f6bb CLINVAR:3436404 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3612a8ef-bf0c-4960-b5ef-4c2d4b199359 CLINVAR:3436404 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbf87878-d82d-4c32-9815-59f77f9bdb36 CLINVAR:3365708 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bcfa34ed-f6cc-40d6-8fb0-81e355315a48 CLINVAR:3365708 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4368a6c-6230-4c89-853a-5ac426bf6579 CLINVAR:3257846 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f454a228-b817-4739-a579-e3d965f22b05 CLINVAR:3257846 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6744b3db-89b7-43f6-a47b-3f083ddabb1a CLINVAR:1142095 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5fd956e4-1941-4f15-94ff-df7b23dc10de CLINVAR:1142095 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b0cc6ee-ce4c-4e13-a0a1-21e55ad93e56 CLINVAR:1290150 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10438bf0-0fd3-4224-b8f5-8d6d25a1bf00 CLINVAR:1290150 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b6e5e43-e824-4e90-98ac-a65854696028 CLINVAR:633286 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef345cd9-0045-4ce8-98dd-acf596dd9a28 CLINVAR:633286 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 340bf9f0-dbdb-46ef-b798-3e0df9e4ab18 CLINVAR:927821 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79e180cd-d34c-4dfa-9940-f01a85386339 CLINVAR:927821 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bff6b06f-15dc-4063-aa38-d30249d9034e CLINVAR:431516 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf25de35-f2e3-4648-88c0-c792cedfdc27 CLINVAR:431516 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d78ac5a7-4d2f-4b71-ae83-11b8c2d1e0a5 CLINVAR:251492 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a862d19f-6da1-4eb1-aa4a-f047a29ba154 CLINVAR:251492 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1612ccfa-321a-4db0-ae90-24af7a3867a8 CLINVAR:2010905 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 182d883a-719e-447e-accb-e396927bb2b5 CLINVAR:2010905 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e35c9da-4c7b-45aa-82cc-55ea1efbc28b CAID:CA2797727079 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b31ecd3-3137-476a-98a0-6abe30de5362 CAID:CA2797727079 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80eaaf51-ce0e-4c3f-b7ec-9aea146e88f9 CAID:CA386958942 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2598afb3-db02-4586-b287-33a3e2db04a9 CAID:CA386958942 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 429b1af4-8b38-445e-b6a6-a4c31ad32844 CLINVAR:2575051 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b939b84-d0cc-43db-893f-05c876c97ab6 CLINVAR:2575051 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8192d8fc-817e-4439-950f-d156a292b9ff CAID:CA2018007654 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99907c33-a9dd-4e72-9288-51f985bf7dc2 CAID:CA2018007654 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2700d686-1f98-4cc8-b3a8-f33d3cbda06d CAID:CA2018007655 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7eb506e-abc4-430c-a8ca-fa3a94ad8354 CAID:CA2018007655 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d54dadd-ca6e-4510-8f84-26bbf5e15f88 CAID:CA315408883 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e153c36d-2e65-452a-b258-f079d4045b32 CAID:CA315408883 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a06738b-c23b-494c-a780-2f9d376eaab9 CLINVAR:804916 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a38b355-0a97-4793-8604-0f98421867b2 CLINVAR:804916 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34816371-8eb8-40bd-8ad7-47a327561042 CAID:CA315420234 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 740dc58a-d0c9-411a-a674-254508b5bda4 CAID:CA315420234 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97ea3921-6003-4fec-9880-d7fd564f998b CAID:CA367358198 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e2e5599-ba13-47b8-b36a-0233ba8bfa78 CAID:CA367358198 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a98b0f19-3f3c-4850-89e6-5a7fcc4a49fc CLINVAR:129144 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e12722f9-155f-4294-8947-6decf60b3855 CLINVAR:129144 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8fa441e-1b37-47ac-a776-8e8d3e187d1c CAID:CA367403318 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 16b07c3b-404e-4ee3-9d51-3807717cad44 CAID:CA367403318 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fbd01aa-afcb-463a-8cd2-236934d55afc CLINVAR:418225 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7695ac21-8e92-4bc0-b58d-44e73e4a60e2 CLINVAR:418225 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4c15be6-e758-4349-8e4e-0dd8d3efcef3 CLINVAR:377026 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e567955f-19e3-4db6-9bd6-3279666f653a CLINVAR:377026 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15cce7e1-106f-41b4-85d0-ba8e0f889e97 CLINVAR:196223 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f051b3ae-88a4-4017-ad6d-62241f5fbf1e CLINVAR:196223 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2be10e9a-3055-4a3e-8eac-1e0fc9627172 CLINVAR:498567 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29fc8fc6-8405-44de-abcd-bdf9533bbe5f CLINVAR:498567 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd79ac0d-7b51-47f8-8978-5b1b27cfad7d CLINVAR:1065143 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38237d00-5be6-46e1-a2a4-15fd8550d586 CLINVAR:1065143 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 333d083e-13e0-45a5-9116-508fd3d75324 CLINVAR:370146 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fba489f0-c54e-416b-a7e3-472c9ce746f7 CLINVAR:370146 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8a56d4a-38fc-4383-8b09-450b11fe7369 CLINVAR:371281 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8da2146d-3376-40aa-92da-fb0ec554ca9d CLINVAR:371281 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78f3e16b-13f0-472b-8bb4-af9c90ced2de CLINVAR:189040 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 50123173-aeee-46e0-ac12-632d293c91ce CLINVAR:189040 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 167e0ecb-82e6-48ae-862e-1cd92915afdd CLINVAR:556386 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2ffd7b5b-4cff-4cde-8e4c-d14fb8dfd1fd CLINVAR:556386 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8891cf08-bda9-430a-af85-4bd188226975 CLINVAR:370222 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 32f3d2ab-d04a-48a1-ac4f-2a63bc85b6eb CLINVAR:370222 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da5db504-22c1-42fe-a142-f35ac487525d CLINVAR:284776 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86785972-5ff1-41a4-a8da-a80c5e528a30 CLINVAR:284776 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5966b87f-9d19-4525-b52f-4d20939e9210 CLINVAR:953728 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0fc28246-ea25-45ac-afc2-adb0923f0e08 CLINVAR:953728 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d4e1e44-2adb-44d4-b0f5-0b9db957de04 CLINVAR:972793 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a251577-40b5-4bed-98d1-bdf5dc764ca0 CLINVAR:972793 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c9a3b45-dcb7-4353-8569-04f8940ceb58 CLINVAR:982495 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 122c87db-3542-41eb-9c01-760af9905f3b CLINVAR:982495 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68198d53-6821-406b-9a4d-ac44a0909c84 CLINVAR:528065 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 28b0a18c-a440-4f55-b9e3-2955bac99a24 CLINVAR:528065 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c1e64fa-39e8-492c-afa4-c443b55ece39 CLINVAR:533345 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73729243-c07b-472b-9e9b-dfda657794a7 CLINVAR:533345 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 211c7a62-781d-4af7-a869-2937ce05ba10 CAID:CA355961228 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8319ae61-8117-467b-a936-c090c90c209b CAID:CA355961228 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f606111e-c223-4356-80c2-7898d7b1d176 CLINVAR:222997 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b99a35c4-d1d7-4f79-8dc3-5a4a85770260 CLINVAR:222997 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aec7f59b-e9cc-4089-b252-abd150cf7212 CLINVAR:556064 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 340a0ff8-bced-482d-811e-8efbb7775d9d CLINVAR:556064 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 642f8e2f-15eb-4c06-b704-25a740c33274 CLINVAR:551966 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 866de137-362a-477e-93a2-efe9e2c667c9 CLINVAR:551966 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5b1f99a-bf89-4706-ba88-442b5bb04928 CLINVAR:1683229 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b84ea4e9-0045-42cc-a76a-05a158bf4bfb CLINVAR:1683229 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b5e0dfa-ff3d-4c02-b311-85bebea89b64 CLINVAR:556358 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08e942f3-757d-4f30-acf2-ea0cf832fa91 CLINVAR:556358 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e22225f-5dac-452a-b6ec-2efd23aa7e3d CLINVAR:950888 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2371d4e2-2b3f-4b0d-be84-7f0aff72f101 CLINVAR:950888 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12875fda-411e-4826-bc1f-c9e59c716aa1 CLINVAR:550474 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ba6e2d0-391d-47f3-b1fa-d029e72f5965 CLINVAR:550474 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69f68554-7719-4491-bb6d-cc2f8a7544dd CLINVAR:226360 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b996dc7f-07e1-4208-bd44-02a1ada67d12 CLINVAR:226360 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10706d9f-2d61-4fc6-9b8c-6108c6e0e62c CLINVAR:251896 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa1f64d5-cade-4a5a-8d80-b67beebe2710 CLINVAR:251896 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 405690da-20ef-438b-bb0f-227e9ec0ab4f CLINVAR:224617 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 319858d1-48cb-4a1c-8d13-5b5fcb824d1b CLINVAR:224617 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 985f0d28-44f7-40fe-ab23-c3b709ae1dbf CAID:CA400029776 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a028b9d5-07d8-4137-9782-186405672bd3 CAID:CA400029776 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f29252a-90bd-45aa-a7ae-14e1d3920814 CAID:CA2695224149 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 115032de-631b-451f-8ae7-2a74fbc4f38c CAID:CA2695224149 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 784b2285-2b35-4522-80f7-a60a7b3374a0 CAID:CA2695224151 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6bb19543-84b3-40ed-ba52-bfe32252fa28 CAID:CA2695224151 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb2fd3c3-c096-46a5-98e7-55a2aa2b13db CLINVAR:13533 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a98bed17-b413-4fe5-bb12-8099b0d37f8f CLINVAR:13533 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6aed4567-0d93-4362-8288-2afe0cc95d92 CAID:CA2580060377 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74b65a3d-d851-416e-9518-e44ea1f60e9c CAID:CA2580060377 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a1d9198-60db-492c-bfe4-a3c509618145 CLINVAR:900153 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3564659-2e04-44f1-a876-aa6d82f64d76 CLINVAR:900153 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 237cea77-f116-47c6-bd3d-f8328a54d82d CLINVAR:503800 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75076a83-5988-47ba-9c3a-4a05a017e099 CLINVAR:503800 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a8d93b5-88a3-472d-9e75-a1127c224b42 CLINVAR:1455030 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8898de60-0aa3-4c57-88cf-a9d1734fdc2b CLINVAR:1455030 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 786395f8-8c7d-4e29-a7ac-2576aa888c79 CLINVAR:280068 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4db9c19-6b2c-49b8-ab2f-00fa650a5ba7 CLINVAR:280068 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 682a37b6-f17a-4506-be6d-beb9a37f7e17 CLINVAR:242418 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a457d9d-06ef-4e2b-a5e1-d7cbf0902e4f CLINVAR:242418 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65bfa866-9052-431d-8186-57b8c00db73a CLINVAR:2203089 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a321c5c5-f101-40bc-bd44-8f8b7e83cc28 CLINVAR:2203089 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0314b942-6c29-448f-89e8-43edaadbf7f1 CLINVAR:94351 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 90e308a1-149a-47a8-bea9-c0fcdc7c4607 CLINVAR:94351 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3d5e7c2-9ad4-47a3-ab16-9aa3ea9d5fbf CLINVAR:2100759 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b683991d-532c-4779-9b93-afe6c33862d4 CLINVAR:2100759 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 776c4ca4-ed66-48d3-af62-5366c22bac89 CAID:CA2586969535 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f50dcf69-ec50-4bb8-8a09-d70122daf371 CAID:CA2586969535 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c53f556-5f25-4c47-8cab-672d5b8a6cea CLINVAR:488834 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b350735c-46c5-468c-b6f0-54b4776d1385 CLINVAR:488834 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5a341e1-3627-4141-849e-c9774dfdcdb1 CLINVAR:500214 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e2c690d1-e3e4-4108-97bd-b57e4094817d CLINVAR:500214 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2f4a067-fcdb-420b-8f22-676043876aa9 CLINVAR:852860 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38a16725-46ad-4550-b87a-da9749912f76 CLINVAR:852860 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3181d8e-0332-46bb-988c-56cb61f51767 CLINVAR:251763 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce3de270-5145-4446-a146-e63620c61586 CLINVAR:251763 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8de6908f-c251-4848-9a9e-f84f30241b37 CLINVAR:1120245 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7eb392be-1e14-415e-9a4f-914e004557de CLINVAR:1120245 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88f1aab1-3e7b-4210-aa9f-12d5c09fb26e CLINVAR:200922 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18a6aa45-1bc9-48f0-bd17-523ef35222fe CLINVAR:200922 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 220817ac-2b7b-4de6-9c0e-c2dd77dc4fc6 CLINVAR:252112 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ebfe1fe-5a1a-4ff1-acb8-ceff0a5a4e67 CLINVAR:252112 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c079e988-0536-44c1-adef-2519e025a1f5 CLINVAR:406166 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1dc08f22-b206-4f90-b3d7-c42bc72dd5b8 CLINVAR:406166 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7feb357-743b-496e-a12c-33aa666c4bbe CLINVAR:403662 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 95536fc6-5f99-4992-a336-21221290f3ba CLINVAR:403662 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c07eb6b-874a-4836-aa47-3188fd771c01 CLINVAR:627156 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab4ce76f-7fd2-4b0d-a11b-d65741758ed6 CLINVAR:627156 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c2fd041-df54-4fe8-8880-97d6a526609c CAID:CA915940889 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10f0f483-76c9-4d58-99a9-bd20d7b22efa CAID:CA915940889 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbb20967-d0c6-4387-b10e-b77d30867282 CLINVAR:439683 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9617a446-a30d-4fa0-b611-4a21c09aad54 CLINVAR:439683 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb60368e-7da0-43b3-a5f1-18c35e3565bf CLINVAR:10624 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d989cf0-bac1-4e8d-bf8e-9f7598b3962d CLINVAR:10624 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33f7e8b4-da3c-46e4-99ab-43f015746425 CAID:CA414914394 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 549f9bcf-86b5-4bbf-83ce-fe0a9d66d4c8 CAID:CA414914394 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e1d92d9-a57b-42b7-8956-0c9384587882 CAID:CA414914392 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 11f39adf-b418-44dc-a330-21dae898f107 CAID:CA414914392 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 463bd441-2ab8-4760-aa6f-514a9f04f80b CLINVAR:2691907 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be31cc92-fd51-43b1-8bf6-7a1b605dfb46 CLINVAR:2691907 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1f8fede-9fe4-4102-b563-b304e7facf06 CLINVAR:11915 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a890166e-6484-4b75-8e3c-db510e8694a3 CLINVAR:11915 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30e0aac4-69cb-46d5-8b0f-fbcebe50647f CLINVAR:552333 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 916ede28-d5a3-4e83-aa9c-99e55e327727 CLINVAR:552333 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 580b676b-e539-4dee-a1a6-0c28515dcae9 CLINVAR:555490 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 016f6cb6-544f-4803-98f5-77c61547be52 CLINVAR:555490 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd5f3017-5b27-4d5a-8485-70522592114b CLINVAR:9725 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3cc983e8-b6f0-47ec-bb40-9ad061e6763c CLINVAR:9725 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 618d3913-5068-4d3d-8f6d-4907bd58efea CLINVAR:9603 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f1d5d20-6c3d-408d-919a-6372a9492521 CLINVAR:9603 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28a64299-576d-4d43-b331-0da31241baba CLINVAR:544259 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8e8f14ed-c46a-483c-9842-dd4d388fd766 CLINVAR:544259 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79da7f22-e020-418f-bda7-858fce28ecef CLINVAR:1139929 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 965f44c9-9454-45fb-bca9-a529699156a1 CLINVAR:1139929 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2acd3f87-7204-4b5a-9d3d-520aab68cf94 CLINVAR:7282 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 71aa2e2c-d251-497e-9490-e471caa5e1ea CLINVAR:7282 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aef1844b-435f-41fe-bc2e-542967b9192e CLINVAR:558189 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e27efdf9-6187-46af-b722-4364621de0fc CLINVAR:558189 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a47deb3c-73be-4281-911c-dd71b26f1bd1 CLINVAR:242721 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23a7ce8d-da51-4325-8e6d-c7634ef48b5c CLINVAR:242721 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 390f764a-1b90-46c2-ac39-ecba54bdd8ad CAID:CA2573332240 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a080826a-02b0-43e2-bc2b-d3c6c1d95570 CAID:CA2573332240 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8552019-6fc4-4780-8c0c-0eaaa7072caf CLINVAR:550883 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce36a9af-d85d-40d9-b83c-dc093081b059 CLINVAR:550883 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8136f073-2845-4e31-9a2a-1fee769b1ca5 CLINVAR:456720 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba976153-1d87-44e0-a697-95daa7dd2ac8 CLINVAR:456720 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2ed574e-aa8c-4914-b9a7-040ac0188ec7 CAID:CA355965290 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fcbbd83-4d47-454e-8fe0-707245b538e4 CAID:CA355965290 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b37d3517-7506-4224-b2dd-581f3898544c CAID:CA2580618260 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d66fba2-d462-4e03-a16a-8f13fbc2255c CAID:CA2580618260 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e0a57be-6a5b-4238-b76c-40ce6d92fb44 CLINVAR:11921 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3fde1dd-2dde-4287-8fa9-ddf751bcd772 CLINVAR:11921 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b9aafb8-715c-48e7-953f-d80da453e3aa CLINVAR:9657 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 376b0eaf-7adb-4d54-bc83-821603f4a151 CLINVAR:9657 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 505eb6e9-6361-42fa-b839-16b7a14d72e5 CLINVAR:9625 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5c11994-46e9-43c2-9027-ccb78ef0fcbc CLINVAR:9625 biolink:is_sequence_variant_of HGNC:7475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c9d5f60-08e4-48cd-98f6-639d7b3ece46 CLINVAR:430688 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f6faf3b-a49a-4c84-8c12-3f9eec791bd1 CLINVAR:430688 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e6a6869-dff2-407c-a27e-34a3c5e1fcea CLINVAR:689933 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad2af46f-4644-4c10-bfb8-15a9e110827e CLINVAR:689933 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d389a0a6-165b-49c8-b379-24736bedcfde CLINVAR:689935 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec27bcda-e032-4681-818e-556f10a581e0 CLINVAR:689935 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b7bda5d-6f95-4e94-b402-9e229743473f CLINVAR:984179 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b2437514-cbbd-4637-aba8-3a2e3d936e06 CLINVAR:984179 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9df6a844-ea04-49a6-b4e2-914308fe5b34 CLINVAR:557942 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1130a8bc-6ad6-4113-a442-31c60559220a CLINVAR:557942 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ed0544d-f6b6-4b76-85a9-2ca7039e5ef1 CLINVAR:1162140 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6453c70-c742-41f6-a34c-6de19fee0b7d CLINVAR:1162140 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 222fefe5-3a47-4b40-8309-ae588a54fdbc CLINVAR:496861 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b5c40805-e8ad-4080-9637-ed123acb8a7d CLINVAR:496861 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d79309b-b677-4f05-b671-0c0b38ec6605 CLINVAR:1523621 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba453ef9-5c80-441d-ab60-daec1be524c8 CLINVAR:1523621 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a4e8721-7bef-4bd4-9adc-a4e896ca708d CLINVAR:2961353 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13799c4f-0301-43ff-b53d-0664bfc8585d CLINVAR:2961353 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f344589-8495-477c-bd7e-d6232e71069e CLINVAR:2025155 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7713537-6397-4ed3-a47e-cea5d7621c70 CLINVAR:2025155 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ed5ea45-af9e-469b-963e-307da2d6cd56 CLINVAR:167191 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b13a2ab6-5dbb-492d-ba95-b7bf4557f233 CLINVAR:167191 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bfd3f3e-1251-4c5d-a2c5-35730589801e CLINVAR:2203498 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e651dbf0-a6d8-40f7-9da3-8418ca940d48 CLINVAR:2203498 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28908555-2b1a-44d6-906f-cab05ff1f203 CLINVAR:373452 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 141aa2ac-08b0-4547-93c5-72b5934acdd8 CLINVAR:373452 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7445b94-a1c3-4a94-90f3-999256ce73e6 CLINVAR:567526 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f430cdc-d708-443a-8ba3-bf1313bda7e3 CLINVAR:567526 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78b1ecc2-4fb6-47b8-bd4a-8a8deb8493cf CLINVAR:801414 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba60cee9-9b9e-4614-8555-9f27a5925489 CLINVAR:801414 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3b62f42-3d19-41ba-a1a5-b9f2c2670ef0 CAID:CA9043555 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ef963e9-c160-4b5e-8c65-c316ec50c4d9 CAID:CA9043555 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2fed924-8a0e-411c-b6be-fc9ec47313b8 CLINVAR:251427 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3cd73f7-815a-4b8e-b932-e00892fc628a CLINVAR:251427 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46a82130-16a6-4ebc-bdb1-9209425e98e1 CLINVAR:251901 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 242d0da1-c885-424a-9690-b7be726a968f CLINVAR:251901 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46ddafb1-1023-4df1-b758-b7773c9acfde CLINVAR:252149 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4a24010-83d5-47b8-a1aa-0319839acb66 CLINVAR:252149 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb21be26-9784-4b6d-98d0-907e343d554b CLINVAR:252152 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e71aab1b-d56a-4e2a-9eca-ee9d5495a656 CLINVAR:252152 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c30f866a-dfb8-4c15-8f64-345e6b19d65a CLINVAR:251656 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2508fc66-2253-4cfc-a3a9-7c85833b3b25 CLINVAR:251656 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5a2b4ae-25ac-4c6a-b131-86909a6d08bc CLINVAR:1967129 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55a4c5c8-0ac5-406b-a81d-ed343ef04999 CLINVAR:1967129 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cb00f41-bd14-44e6-baf5-3f47c95caff3 CLINVAR:251657 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 445716db-9ada-466f-bef0-66f0d09a2bcf CLINVAR:251657 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0111f5c-b740-4ae3-b9d4-32ea9af3f1a6 CLINVAR:252185 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3fd9b140-94bb-4b59-9445-114be80ef85e CLINVAR:252185 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01014539-3c70-42cd-ad7e-93839f7a1488 CLINVAR:161275 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ffc2a854-4547-4d0b-bafd-9fe423c5098c CLINVAR:161275 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7d86434-e208-439b-b51f-4acda934acfd CLINVAR:251567 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75b6fbe4-6971-4f55-b2ae-513b11aeedfa CLINVAR:251567 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0738b64f-3eee-4929-9ead-c7dda1c0c302 CLINVAR:475749 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0356bda8-f4d3-460e-bd73-90d621099f0c CLINVAR:475749 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43a797b9-815e-4316-a9f5-1d1620fa7802 CLINVAR:421233 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10657250-7895-45e5-872e-c1c8ec51e3f8 CLINVAR:421233 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d08018e-d54c-465c-a59f-20a3842efc91 CLINVAR:376857 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b513179-0869-461a-be7e-c0dcff02e237 CLINVAR:376857 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8371be3d-87cd-44a8-b784-1998eec1c55b CLINVAR:635783 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa08053f-757c-4920-bf57-e89be01771b8 CLINVAR:635783 biolink:is_sequence_variant_of HGNC:7227 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59fd6593-9809-4f7f-8a3f-c17d061b8618 CLINVAR:254653 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b192d26-5a75-4e5b-8a02-c8f2b2535654 CLINVAR:254653 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6a159c7-30cb-4a9c-aba6-5aee125a4249 CLINVAR:254651 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3ad3d90-0147-4bb5-955f-ac01d7d520b7 CLINVAR:254651 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9443bc7-3da7-4f38-bf6d-d2a5054cb069 CLINVAR:254652 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a851bb42-be2f-438e-82db-171727d28f6f CLINVAR:254652 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a53b78f8-8026-45f1-88a9-17c166bc37fb CLINVAR:1466744 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ec82d1e6-f224-422e-bc50-dfb696554f38 CLINVAR:1466744 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 585f8898-1e07-4fdb-8e81-b0167472911d CLINVAR:430375 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e644630a-ee84-452c-8c3a-9ab4277d93d9 CLINVAR:430375 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5917304-c816-4ca2-bd6b-1d7cecc0a129 CLINVAR:3587669 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3886811d-4527-4a41-8490-249845eb239c CLINVAR:3587669 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebbd6b1e-1e37-4b77-888b-d8e45278242f CLINVAR:3342643 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7acf2d8c-c1aa-45bf-9715-2561621a8862 CLINVAR:3342643 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4aac8fcf-aec1-46e9-9ba0-55a384e65fbc CLINVAR:3365552 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 651f7041-7697-4481-9f0e-50c59e13c463 CLINVAR:3365552 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01a91315-defb-4531-b06f-18c19847e6a7 CLINVAR:2730693 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen de56947a-0c2a-4ec8-ab58-d7262d666da1 CLINVAR:2730693 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 066b9ca5-fc7e-4d81-b31a-92d3c3185b83 CLINVAR:3367906 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 05f69ee3-c35a-46be-b85e-74c7921b8d1e CLINVAR:3367906 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdf7106d-2903-4cb0-8c8e-088b94bfe12e CLINVAR:3766477 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aa42763b-3640-4a1c-b1b6-e0f068453e58 CLINVAR:3766477 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51c25409-c52e-4649-8b66-50e717f12eb8 CLINVAR:1878806 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f20b0a2f-44fa-43b9-b8e9-548765bc4be7 CLINVAR:1878806 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 245b78de-ffff-4dbc-b48a-05dacb650d5b CLINVAR:143761 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c6bb17c-a449-4668-b672-9a28dad84a32 CLINVAR:143761 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f798eb45-20d6-437e-8bfe-26d36e6ad9b5 CLINVAR:3436407 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen abd0f85e-6f10-4f1a-8ed5-ec2fa8f45db3 CLINVAR:3436407 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8ac64b4-2f9f-4f73-9aec-25d1dbf88b5f CLINVAR:3624665 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8b5af1a-ffd1-4c52-9cfd-583fd1d37964 CLINVAR:3624665 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3f5bfbb-8a15-4342-9b48-acc7bea0729b CLINVAR:3436402 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd2fbbcb-20cf-4445-8f96-275ff5a8ebfd CLINVAR:3436402 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f71e7956-06f3-45d7-a50e-4cccf6225618 CLINVAR:3607919 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5da6145-19b9-4686-b719-12e7307648da CLINVAR:3607919 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7302d49-ab43-496e-aa51-bce35707c352 CLINVAR:3363507 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 385dd576-18b8-4fba-aaa1-e343d5281850 CLINVAR:3363507 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a040ddc-cb0b-41c4-9228-e2212bf58a85 CAID:CA410203973 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7062de3e-9240-4f70-86a9-d9b69f8ffd76 CAID:CA410203973 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d12bf4bb-4125-4679-a0af-c0ceb0887c82 CLINVAR:947774 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6de19a99-edfa-442c-a20d-d05ed963573b CLINVAR:947774 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e396cc9-c258-4098-bc07-287c5c31b1b2 CLINVAR:3603866 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 31b404ea-4a35-4baa-8154-600fda3ba1f0 CLINVAR:3603866 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42a80a44-8ddc-4ac0-a838-0e337206c0e8 CLINVAR:3240392 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd5ccb99-be69-435a-936c-767425938519 CLINVAR:3240392 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a81645a7-7a2c-41cc-bd72-3e12ee09be9d CLINVAR:3068261 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa48501a-e1f1-4dff-a31e-51ae059faa8d CLINVAR:3068261 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8918c8f7-e51c-4e01-b7ea-3214c6a2eb94 CLINVAR:943098 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 902c6eaa-d092-4731-be44-6f931e1e661f CLINVAR:943098 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 394dce82-e513-4dfc-b35d-2897609e64fb CAID:CA2695237640 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a5bb5fd-1ad4-4db7-bba9-3001b55b0ba4 CAID:CA2695237640 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c921c050-9f23-4c4a-9f21-83831a3470e4 CLINVAR:143316 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3002b4c6-3db4-43ea-b62c-12f958a78707 CLINVAR:143316 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6435dedd-59e2-41d8-9599-dc8d6a9cd03e CLINVAR:2443586 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cac70fb5-4b1a-4e4a-8ab0-603726ad4b8b CLINVAR:2443586 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4088b2d0-feac-4562-95f0-5648f000c716 CLINVAR:654655 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d32a845c-533a-4361-a355-8ab61f639bc8 CLINVAR:654655 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e69f135-7e1a-4be7-bf70-69cb7a8f175f CLINVAR:850287 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b65f8fac-7528-4899-bdf5-f371f311688a CLINVAR:850287 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d54f8ce2-5a98-4efb-bb93-87a2de358af9 CLINVAR:236480 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 86c52700-fdf9-4ef5-8731-3627561ee32c CLINVAR:236480 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dfad66f-5619-441e-b502-cf5d896bd50b CLINVAR:952461 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a776ce0b-3483-4d8c-b907-252cd2a6361b CLINVAR:952461 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a80a2fb-23f6-4e80-ad06-1c01acad4759 CAID:CA523302413 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad58c767-506c-45b5-b482-1ff5d39b0504 CAID:CA523302413 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baa7465a-0a57-4dff-b558-c08437a8d8fd CLINVAR:1470027 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 649044aa-6786-4903-b3b1-bcc0ad09efaf CLINVAR:1470027 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dce358e-0e44-4c31-84bc-16842f221639 CLINVAR:973954 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a245a8d3-d122-4f88-8642-169d89e57d09 CLINVAR:973954 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2205697e-557d-418b-9ba7-cdca3380de46 CAID:CA340741225 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1010516c-a6d9-4754-bcb5-2058de0fd83a CAID:CA340741225 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef45cbcb-7777-4e9e-a3c4-dad29c0987b7 CLINVAR:1399221 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19c3ab06-0e1f-4e58-bd95-764c9afa2916 CLINVAR:1399221 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc861fcc-f6cc-4375-a1d3-10ba7f863aa2 CLINVAR:374139 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 675c6246-53ce-49f0-9ea1-d641f46e86ab CLINVAR:374139 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d48cd813-b9fc-4d08-9e46-7fac0a4fdceb CLINVAR:552059 biolink:associated_with_increased_likelihood_of MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a0ae42fc-d9d2-4fba-b213-e6b0b08c9329 CLINVAR:552059 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 383c1ce1-9a0d-4f9d-8526-2224ff54e0c1 CLINVAR:1364817 biolink:genetically_associated_with MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b6c75cc-5d3d-43b5-91b9-dc73cdfd9a5a CLINVAR:1364817 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b296361-7734-4519-84f9-8d5c638cd0fb CLINVAR:1177402 biolink:genetically_associated_with MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 127d81a3-456c-402b-8565-78d8d65d8e68 CLINVAR:1177402 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7a745da-ab75-43ac-aa5f-af12c8bdad4c CLINVAR:533979 biolink:associated_with_increased_likelihood_of MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 979bb818-a268-48d7-a351-a135bdd095f4 CLINVAR:533979 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20b8d626-7bdd-4b0b-bbcd-70dc833b5fee CLINVAR:530855 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4020b52-bc7b-45f8-934b-874d6170c7ad CLINVAR:530855 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e385b5d1-f8cf-49d2-8cce-df2774026564 CLINVAR:158923 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f1a494b7-fd7c-4e01-8610-4d91e90b28bd CLINVAR:158923 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da49661f-0abe-4dbb-8093-2bfc1600c06d CLINVAR:164656 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 015545c7-62da-4a90-bf66-e6054f9edaa8 CLINVAR:164656 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46bcfb52-f9a6-4538-b51b-4d95a1135768 CLINVAR:1308583 biolink:genetically_associated_with MONDO:0700087 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb57c137-2b26-4f0d-8524-845d28d2cdc5 CLINVAR:1308583 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40882355-74dc-4574-b28d-2ddfd0fc584f CLINVAR:1496916 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bac47636-f8a9-4b7c-96d9-f1bc2dc2b750 CLINVAR:1496916 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2ba611b-5bfb-474c-a7cd-aba35070e7c8 CAID:CA412361050 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f286250-0067-4c11-a9a0-486751d21bea CAID:CA412361050 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b63e4c80-f606-4a3a-ab8e-c88061eedad2 CAID:CA412353168 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf2ee69a-d21f-41be-af56-e224922c6fc6 CAID:CA412353168 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ac76938-1a57-487c-9a2c-5bf3fd421b2e CAID:CA294589 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6dfeb40-740c-4779-81b5-26fa9d7e7a9d CAID:CA294589 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f77862e-7d1b-4666-ac20-adc195917ef7 CLINVAR:1701032 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ab9bf45-72e5-4040-af70-3113f70192ab CLINVAR:1701032 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 441ff53a-6dfa-47a7-a67b-db741de16532 CLINVAR:98831 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 86acc311-74b5-45f2-ac94-8ac5c46f57c1 CLINVAR:98831 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bb8e402-e38c-4b96-b1d8-460f8f1fb3e3 CLINVAR:978981 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 226c600c-07db-4292-b3e1-66cadcdf0b82 CLINVAR:978981 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad38ab32-10c9-45ba-baa2-23ef627f6b38 CAID:CA340742778 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 818c76df-a645-4163-a592-3099d32baae4 CAID:CA340742778 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac7787ca-0ba5-4a5f-8dca-e6eb33c00aae CLINVAR:973964 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b2518d4-0081-4885-a666-bdb316fe0834 CLINVAR:973964 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1cc88b9-5d5a-41b0-a815-3f5ca00a0d3d CLINVAR:203579 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cf93f66e-7e96-442b-8fa6-33848cc93cfc CLINVAR:203579 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25fb8728-225b-42fb-b514-5cec282e9fb1 CLINVAR:65956 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ba02cc7-1bad-4345-957f-1f8bd185fe6d CLINVAR:65956 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d86c195a-07a5-46da-a822-46a79f573776 CLINVAR:420138 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9d5f11d4-3aec-4a2a-bf3e-15bdf154c8d4 CLINVAR:420138 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b79d450f-ad81-43e2-963d-30015afa878e CLINVAR:2582809 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b0229656-55a9-4db7-bed7-eb00bf644381 CLINVAR:2582809 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 247ac34f-c211-42a4-aedf-d0b8bef92fa7 CLINVAR:280732 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2a0a5b35-c443-4a1e-b65e-45ab4edb0f4b CLINVAR:280732 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e77872c4-e575-4e76-b662-dce349342b29 CLINVAR:93549 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a6a9324-15bb-48d0-8f83-29601ed66f54 CLINVAR:93549 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fc9817d-982e-4b0e-bb09-d2936a37fc30 CLINVAR:2582036 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e06b816d-8718-48c3-b07e-feeb4e3cddb3 CLINVAR:2582036 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8707a12f-d349-4948-9a16-5bc3702f3b67 CLINVAR:430393 biolink:genetically_associated_with MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6fc05657-4a39-4eee-92ff-2a7b170b1673 CLINVAR:430393 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8657957c-134b-43a5-a6f4-0ac47100ed4f CLINVAR:18291 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2fd7aefc-e4a7-4ca5-89f3-53be1e9a496d CLINVAR:18291 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f1f7457-a9c5-4244-85d5-47b8385e5281 CLINVAR:18288 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2f9bb617-815a-4289-8b83-407b3c26b5ac CLINVAR:18288 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7ff7486-50f5-425f-b466-e06c88bb93b2 CLINVAR:377433 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ca96199-444f-4d60-8c42-6ed6f0715c0a CLINVAR:377433 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a5cb3ca-ae40-407a-8965-f2f6b8c00826 CLINVAR:532770 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c640affc-f72d-4967-9d4a-96674ddc9f23 CLINVAR:532770 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f9d5924-bd17-4ba9-ab21-1b41a69d163d CLINVAR:2572159 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 46febe53-f563-4a2d-bd52-3e78c613446c CLINVAR:2572159 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b1a8cc9-19d0-4024-b57c-b926ee25da5b CLINVAR:42098 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fbbf7cd0-16a9-4bbf-9973-ff1d3c0a0d84 CLINVAR:42098 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ede7f542-8866-4f0e-b9d1-5ffc4b12643c CLINVAR:655896 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 571b0bf9-c054-4ea6-96d7-cb23afafea37 CLINVAR:655896 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d45f9ad-e518-4e37-b5f6-1f84d1e32264 CLINVAR:497129 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37629ed7-8bf2-484a-b400-33edc3130b65 CLINVAR:497129 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f1b5c61-d1ae-448e-b6ff-6f41c5254d33 CAID:CA347212124 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef51ca34-8388-4511-bcd0-dfed15bb844d CAID:CA347212124 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e369457-bf23-4e5e-a8d6-2587476097fc CLINVAR:167025 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 73cc11a6-31c2-4c4d-a50d-2472bc64449a CLINVAR:167025 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bef64b47-a995-4586-a817-a63a77b39a1d CLINVAR:167021 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80e2752d-49c8-42a5-b230-dde2f30362ec CLINVAR:167021 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f74cf2c-976d-483b-b7af-766ecca88e37 CLINVAR:3775113 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0611dcf-e47d-49ed-b8a8-3d6aa3295380 CLINVAR:3775113 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e046cf81-e687-4cb6-bb0a-cd9b49946a63 CLINVAR:443997 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f62947b-46d9-44e5-a352-f59836fbf99f CLINVAR:443997 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc488831-82d5-41bf-a76f-0a30108896b7 CLINVAR:6672 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a9b6d6a-a75e-4a3b-b07d-fb3eb47f261c CLINVAR:6672 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a72bec0-2720-4e86-9fa1-34e22437b4be CLINVAR:1350756 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd59d934-aea8-403a-848e-a4536b100f9f CLINVAR:1350756 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d23d313c-4943-480a-af27-750bb48a006d CLINVAR:217146 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 758b4a1b-4bf7-45e1-8890-ef8c1dd94fcc CLINVAR:217146 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4b561f4-2008-4bab-a588-3c0c6098b427 CLINVAR:166786 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25d76b4d-e51a-48ca-8496-76682eb9a2fa CLINVAR:166786 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9afc692-ac61-435d-9cc9-79d220d84b50 CLINVAR:592961 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98159cbd-dd42-48f2-b74e-dadf4659b70a CLINVAR:592961 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b37db5d4-e73f-4c51-910d-d4f3ed4ef6c8 CAID:CA347212126 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fbbcac11-7157-40a5-b83f-ebbab83a8c6e CAID:CA347212126 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 618b0aa7-8d42-48ed-9c1b-809f89acf494 CLINVAR:290335 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4bc8bfc2-5d1e-40d5-bbd7-421cfadc147f CLINVAR:290335 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eacba750-ab56-4786-84ae-7b02dfffaa0e CAID:CA414917675 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b9b5afa-6a74-4d30-bfe3-5eeaf6c017e2 CAID:CA414917675 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 416edf97-e182-4705-9784-3e2eef4336a8 CAID:CA414438886 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a553225-ab4f-4732-bb5e-28b389c1a54a CAID:CA414438886 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2039529f-06a3-47d7-9063-bdc166782d98 CAID:CA414434363 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d5e86f3f-a22b-45f0-a9c5-b6557a1826a8 CAID:CA414434363 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47be06c2-52db-4ad2-b7e6-86f9f1dcad73 CAID:CA414446705 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8e216210-80a5-45fa-8372-f8c7fb189b12 CAID:CA414446705 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8416530-a130-4152-8f50-bd64b5c80126 CLINVAR:804141 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ef445a5-f4b3-4c5a-add7-1c60ec1ca5c5 CLINVAR:804141 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b014ed2-e883-42fb-b67d-cfe739cce266 CLINVAR:627123 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9d502f6-4e48-456f-ad16-84fffa759421 CLINVAR:627123 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c37b8cb-b575-4d69-b495-b2899d046ef1 CLINVAR:557885 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00d3763e-e62e-4914-b859-dccb47d8c698 CLINVAR:557885 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bcacb91-ed01-420b-8460-6812a9fe74f4 CLINVAR:960079 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 230533cc-a47c-4d3c-acf8-2c8c5dbe0cf9 CLINVAR:960079 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1ab4b44-38b4-4f3c-b047-14fb790cb1ed CAID:CA355961650 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1857b252-f8c1-4dce-b112-8292a74bb4a5 CAID:CA355961650 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8aa37783-1243-4b4f-8f03-38ae46f0febb CLINVAR:11922 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2768ba1e-68bd-4af6-8321-5b9188542762 CLINVAR:11922 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1566db1-1a15-4295-b9f6-e0c21cbf5e2c CLINVAR:252242 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 275914b7-c961-48f3-b7d2-68346f45f9aa CLINVAR:252242 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9c4ae70-1b1d-4d20-8419-b63165beab8d CLINVAR:226387 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb11873b-3440-4613-9a85-43d154257fd4 CLINVAR:226387 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a7a8ede-faac-4723-8ee3-23a778730c94 CLINVAR:252259 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a73b92c5-ffce-45cd-b962-0f4ec5b0cb1c CLINVAR:252259 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d502ff2-f643-4f5c-9932-6de6171479b2 CLINVAR:629370 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73cd9c19-07b8-413f-b746-3879d888e214 CLINVAR:629370 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15e9d019-c574-4fcb-8c6e-4415984e39cb CLINVAR:251877 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ddc77fa-9f6b-4d6c-b062-405fb9a1afe1 CLINVAR:251877 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e0ef486-a17a-4c99-ae7d-c4afff6a2d68 CLINVAR:920005 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6e339ed-07d6-4f3f-818f-1c2974b83296 CLINVAR:920005 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bec2b4b-9ae1-49da-90a8-531a3c25d6bc CLINVAR:251843 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df73c569-4072-48a1-a3db-a42785ac68a3 CLINVAR:251843 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed2f6d7d-ff4c-4180-bbf8-4c3eb9859273 CLINVAR:251838 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f270d2b-0070-4171-b7b0-8ac5bcd9d42f CLINVAR:251838 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85d920f8-ab38-4477-be52-cdd5eb275958 CLINVAR:1713361 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e16778eb-cc97-419b-b09c-e0ca7d7cd443 CLINVAR:1713361 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d64a34a2-0282-4c8f-9ea0-0ecb92f7ae85 CLINVAR:550622 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8af9b8c2-a846-4bb9-9947-ae15d0c5537e CLINVAR:550622 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2277bcaa-d447-419b-8609-7decc4bbf324 CLINVAR:955458 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 765eaac3-f4eb-4788-9179-fd0eab5ad836 CLINVAR:955458 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 716f4000-9360-4ab6-8d82-c22168db70ee CLINVAR:287 biolink:associated_with_increased_likelihood_of MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc6c7223-0fb5-46d0-a3e0-38df73ac4c0a CLINVAR:287 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfb06b11-7e72-4066-b0b8-93808cb58b65 CLINVAR:100312 biolink:associated_with_increased_likelihood_of MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a657458-a3cf-4ff4-b6f0-93a004957ef3 CLINVAR:100312 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd4f88e8-b195-4954-9bac-86b05f501d3f CLINVAR:474882 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7844708-aebb-418b-8818-4969bb6f9587 CLINVAR:474882 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 894b888e-b319-4337-afcc-c25d0b1350d7 CLINVAR:203582 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4882c8f-5c57-4e6c-8b53-95eebd0f2d82 CLINVAR:203582 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef617dde-ade7-4723-ad26-3953ad987b40 CLINVAR:3720746 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73cc430a-6d84-4c3a-9a80-f9dc11cee753 CLINVAR:3720746 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3e63702-2fbb-4f8f-94bf-657c2946afbe CLINVAR:2684202 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a2ccc8c6-da0b-40bc-b25c-d22d0a340ef3 CLINVAR:2684202 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5100598d-98a9-4267-8916-d59684d75016 CAID:CA409103833 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 932f1c22-12bc-4fe8-b356-836f06006a94 CAID:CA409103833 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c34bf3fd-def3-49a7-8c2f-9f64e69aa129 CAID:CA2573051296 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d6f3bee5-af9a-4f6c-bdc4-f4c84007f615 CAID:CA2573051296 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1f91b5f-aa07-4c52-9634-ccfb2b35ebd0 CAID:CA2573051297 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad0794f2-5f05-40d2-857e-d68731695397 CAID:CA2573051297 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc095e60-80e8-4ec2-876d-284f18b94156 CLINVAR:2580866 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 981b922e-a9df-4c8f-95aa-6f3d6fcc9d20 CLINVAR:2580866 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2f4aa0f-bc6b-4c44-aab4-07bd953d0c7a CLINVAR:2627337 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07aed849-c7cd-4f27-9af0-6be860ce1930 CLINVAR:2627337 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad8e618d-0b6d-4bf0-99d4-b79aa7655b87 CLINVAR:3893273 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3186f27b-cd98-423e-adcd-4eb7ec9dc6d8 CLINVAR:3893273 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8131bf3e-b036-4905-ba7a-ad29019ccb73 CLINVAR:2136527 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 506631e3-f4d2-44cc-a621-1ec5ac53fa7c CLINVAR:2136527 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ed2c0cd-90fd-4142-8f09-a34a8909f981 CLINVAR:3893274 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c3514ff-f709-4614-9842-ab45e21d5c6f CLINVAR:3893274 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8535fb3-6263-4e16-afea-3b9ba14f57a5 CLINVAR:994611 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 71ca1bb2-6141-4dbf-9980-b7aeaaaccd63 CLINVAR:994611 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5763373f-d1b6-4cbd-8435-4a26f27da134 CAID:CA386960397 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fc87950d-ab97-462c-bc5b-3986e6b50bd6 CAID:CA386960397 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e04678d-c3fc-4ebd-a9f8-99e465ba9988 CLINVAR:763076 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1a1e9b2-a29c-4e2f-818a-f82355e7681c CLINVAR:763076 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5adb357a-65d5-4eaf-a75d-a046f76a9db8 CLINVAR:1494029 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e7d9552-cbe2-42ee-b76b-6fe48dd5beda CLINVAR:1494029 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f4a420f-40b9-4f57-bfb3-edcaa7d37390 CLINVAR:102829 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4e202e80-e36e-4443-b010-f28cca19c405 CLINVAR:102829 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4aee4ad-3e46-455b-9de6-ca3bb137f1f7 CLINVAR:102828 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a0c2e69a-ff89-4b8c-b971-ab313e7ad6bd CLINVAR:102828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 903d6104-a8ed-472a-a432-03f8c008087d CLINVAR:982109 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 594a9250-036e-464f-9e29-ca44dfd9bb4b CLINVAR:982109 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23e83c9c-719c-4e23-91ae-23ade50bbb28 CLINVAR:3893280 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3781ce7-e3b2-465b-ad78-2cc74ecbd98f CLINVAR:3893280 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d5f5583-2322-422f-98b9-2b628c9918cb CLINVAR:972780 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 579cb115-1dd9-486a-b6ab-65e8af617866 CLINVAR:972780 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1aa2c8e-c620-4fd7-9c8a-fb2c4a97fec2 CLINVAR:972770 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f784fe1-ebf0-4f68-b554-8bc6ebc522e9 CLINVAR:972770 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c00ad7e-5c74-4d5c-bf13-101eaf1066d8 CLINVAR:2735983 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7c3d93d-cdcb-4b92-97ae-fb10fbc4dffc CLINVAR:2735983 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caa2bfcc-805e-48b2-bbbe-14dc4d34eb46 CLINVAR:3893277 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a5ec78c-ce58-4292-8f33-1560079ba380 CLINVAR:3893277 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95d79257-a2fc-4af7-b79e-6d3aac875355 CLINVAR:3369823 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d7ab890-7369-45ad-ab72-a47e99a0c19a CLINVAR:3369823 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8572986e-f538-458c-bc8f-86bf5060e2d0 CLINVAR:3893276 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e20a695-b7d0-46ba-a875-d3010a4d6a6a CLINVAR:3893276 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31cfb14f-c77c-41e1-b944-72682a6535f5 CLINVAR:1184933 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e791eab-ec24-4c49-a6d3-d1125b358f55 CLINVAR:1184933 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb921054-91ed-42df-abb3-7abbda319c3c CLINVAR:372684 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f3a614e-2698-4d76-b946-dea52ccd47ce CLINVAR:372684 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48aed1b0-9b4b-4193-96b5-970c49bcb522 CLINVAR:251013 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11b950d9-d644-422b-bf9b-141892ac7fc1 CLINVAR:251013 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 639dfac1-c5e3-4505-85b4-cd85567ac684 CLINVAR:206972 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f0b8ac3-1fd2-454b-84bf-74eb754b3174 CLINVAR:206972 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8859e9b-34af-4616-b5e9-de3936a7bbe9 CLINVAR:2435687 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ca814706-93bf-4189-9936-64ef363b8e72 CLINVAR:2435687 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64f0a329-5127-474e-b5ff-632452a24b34 CLINVAR:894363 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 116d6e3e-a80f-4632-9f69-edb89c6ef957 CLINVAR:894363 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 600d520f-e6d7-4b9f-ac8c-819a1470eee8 CLINVAR:541724 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb7c7f91-89b5-49b0-a35a-f27442b02f4d CLINVAR:541724 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 156f2b25-bfed-49ec-805c-9881239e35f7 CLINVAR:1496514 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb419fda-26ea-4dc8-b8b4-0095fc9f6126 CLINVAR:1496514 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 555f84b2-b7fe-465c-99a1-e0ef07f63404 CLINVAR:9552 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7b7aa35-8971-43f8-aee0-f6ca8bd97631 CLINVAR:9552 biolink:is_sequence_variant_of HGNC:7502 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d87afc9-f2cb-488e-9719-f505a8b1d1e3 CLINVAR:9551 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0889c093-033b-472c-9b19-22b241c64022 CLINVAR:9551 biolink:is_sequence_variant_of HGNC:7502 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c688431-d875-4c37-a19a-3e9ca6c23a52 CLINVAR:9562 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 63b7fff9-9661-4602-96cb-4bd7f6a51184 CLINVAR:9562 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 207bf203-7bc7-4b61-8340-bbafb6e3fea1 CLINVAR:3899317 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5c94cd3-9ab7-45f3-8f40-747d717d8e61 CLINVAR:3899317 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aefcbf1a-1197-4495-a4ef-19a92fcb2f10 CLINVAR:425907 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d540781b-c044-44dc-afc8-4248c9e67f3a CLINVAR:425907 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d5afdec-b131-4b38-86fc-23c239c8e9b1 CLINVAR:425912 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 16ac7160-1e73-46c0-af5b-42ebe03c56d7 CLINVAR:425912 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd8647ed-e447-47bf-a56b-c1c4b43ad11a CLINVAR:425913 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96db6485-db82-49d3-ad86-6197e33f9b88 CLINVAR:425913 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f069385a-03a9-411b-bc50-52d9fd50d036 CLINVAR:425914 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 906c1272-8d1e-4b78-9279-4535e822adfa CLINVAR:425914 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09613a26-2f4c-4a0e-a500-8df04b6f02d0 CLINVAR:440534 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e61fc88-85d2-4b3e-8ee0-1a290a516666 CLINVAR:440534 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ec0f10b-a359-4df8-83a3-886796092b4c CLINVAR:631470 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac4c546e-1b57-407a-91bd-70818deb6c05 CLINVAR:631470 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f352bf3-a667-411d-a446-487001465b50 CLINVAR:9639 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be256ac1-1c67-4d07-b429-18298a33bafa CLINVAR:9639 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69fe4ea8-bbdd-4b21-8aef-0c1fef9350b0 CLINVAR:9648 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 95761632-7f1b-4006-960a-3cbb868f4fd0 CLINVAR:9648 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad2d5e0e-3417-4dbc-a3a8-8d842c843b30 CLINVAR:9594 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a7f0ba3-1e70-41ca-bd01-a70788f14d2a CLINVAR:9594 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93b7046b-1839-42b4-b18d-66be7cbdf1d3 CLINVAR:689805 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e773d7d-b2ab-4e1f-80ae-8670c76e028a CLINVAR:689805 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7532e2f7-c3a7-4d0a-b4c1-4059c34d38c8 CLINVAR:178943 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd3794b5-035c-4345-9708-a1029bbfeb20 CLINVAR:178943 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83a8e721-d534-4278-bd05-86d702bee0ef CLINVAR:40885 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20319345-6e2b-4501-9721-826e20cf11f3 CLINVAR:40885 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f63fd2de-9513-4d7e-a87c-bdccb5e03410 CAID:CA3046583529 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a84d4b5-d03d-4442-a92e-d964406db4f9 CAID:CA3046583529 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 127f84ac-f4ff-4ebf-9082-312dafe25099 CLINVAR:16039 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f3f097f1-2cff-49b8-9d7e-0e6b1ee48917 CLINVAR:16039 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 194f4e4f-0313-445b-bdb0-0e33eedeb8e3 CAID:CA2635578680 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a779874-8a08-464e-a067-2673e781a188 CAID:CA2635578680 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11811d8e-7eb5-414a-b4dc-237332e8ee03 CLINVAR:2736404 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b55b22f-0c74-4270-a94d-909851c70212 CLINVAR:2736404 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1446ded-2743-4d09-8b95-00c39b16f73d CAID:CA397318655 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b299b8c6-4d04-4da9-b2e2-e5c481edad44 CAID:CA397318655 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95b5464b-e9ff-45d2-9d25-819d10b79bfd CAID:CA397318711 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b89cdca-c7f1-49fc-97c8-97e96911dc18 CAID:CA397318711 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96aa50b7-9930-4809-b454-3070d4efe99f CAID:CA2695224152 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 05db7904-efdb-4f5b-9d3b-1ffd2c2cc574 CAID:CA2695224152 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 343234cf-8795-44e3-993b-5b35ee5be80e CAID:CA2695224153 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7835b78-23a1-4730-84f9-171bf921b00e CAID:CA2695224153 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bb827f1-c64f-41a3-8a33-ad88a72a1a6f CAID:CA2695224154 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 271c0d54-bea6-4d42-817a-34cbc3ab62df CAID:CA2695224154 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2a78e8b-23c7-4e67-be66-2623ccf086d4 CAID:CA354449503 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c774844-af73-4a95-8f86-61c35c4e300a CAID:CA354449503 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf9fbc67-0289-4a47-b5ec-f95c7847dbdb CLINVAR:3725077 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1d71ae9-a293-44d4-97ae-d4d97f016333 CLINVAR:3725077 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52a6961b-ce6a-45cf-8c28-69b4e6c7ef5d CLINVAR:3650680 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f326c828-dfe8-4496-a0fd-066c138da1a9 CLINVAR:3650680 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 573ce092-095d-4760-b502-44c227429387 CLINVAR:3650681 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88602195-d211-4a95-9218-70a4539ac9a8 CLINVAR:3650681 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8832e904-72e2-4845-98aa-4f972a9c823c CLINVAR:3668347 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9b52fa50-8d05-4b9e-93f4-1f59716a5555 CLINVAR:3668347 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a09b0e21-68ca-4d63-871c-75ad05a2a88c CLINVAR:3768410 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen beb342e9-f02e-4b32-ae8e-9b722b7ac6fb CLINVAR:3768410 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56bfeffd-cae4-4e82-93be-74625496ba58 CLINVAR:3662819 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 47055eb5-67ad-4272-94a7-a6394da1d676 CLINVAR:3662819 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d624576-e30b-43ea-b63a-748ebdbc35c7 CLINVAR:2813100 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95999662-805b-4d49-9c62-fae745cc6a27 CLINVAR:2813100 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 630f7c0c-b368-432a-bd57-06a5ba5885bd CLINVAR:3656666 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e5305c40-b0d3-483a-a7c7-6ab7b88aab1d CLINVAR:3656666 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 719d54a3-2761-4d3f-854b-41522ef3373f CLINVAR:3772099 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be91703d-667c-4fc6-a467-d20c5ba521c2 CLINVAR:3772099 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d5a9c93-64d9-4cd2-bd5b-5dbe968b1357 CLINVAR:3663825 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8bf18c1e-c5c3-48bc-8a23-9fd1701c4c9c CLINVAR:3663825 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e1c88d6-115f-4662-8dff-ebae0b0c1d4b CLINVAR:994410 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57f68851-01db-4d7c-918d-8756cc5925c3 CLINVAR:994410 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3993c644-29bc-403e-be8f-e447445e8cd2 CLINVAR:3587670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8724774a-d85b-4093-989b-7b27aa8e8b2b CLINVAR:3587670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98c76238-ea1e-4c29-8d81-628ac587af34 CLINVAR:3674110 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c361f929-40f3-431d-a8c3-bec8685467bb CLINVAR:3674110 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06c41bc5-e9c6-4b0e-9492-60ca066be660 CLINVAR:3653535 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72bf89a5-b463-4cb0-8c98-44d605877e89 CLINVAR:3653535 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29494223-2e0d-4208-9249-d351c51c9471 CLINVAR:3638768 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f7f49c2-8080-42df-9ff1-7332bb3700eb CLINVAR:3638768 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33511f69-2d8b-436f-8831-fc74657f8f60 CAID:CA414917674 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3108868c-e1ee-4b13-84b7-0245f3ace16b CAID:CA414917674 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2848fc3-c21b-4818-a704-b2a70c508579 CLINVAR:3672603 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae31b312-e16a-43a6-9aaa-79d2e49411cb CLINVAR:3672603 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28d23e4b-fedd-45a9-a2d9-ab260ac2bfa6 CLINVAR:3647941 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06f3c7ee-28e6-4fb2-b4f2-bc28009e179e CLINVAR:3647941 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b96b2197-eff9-444a-9942-e850921f85f5 CLINVAR:3666186 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2b9d4c7-fc58-4ece-8878-c6c837284cab CLINVAR:3666186 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 596857a2-1e16-4578-ad2e-124792ac3661 CLINVAR:3671857 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7dd634b0-4fe7-497f-9836-6e3b6418b252 CLINVAR:3671857 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82791d90-090a-44f4-816c-695d16e40d1d CLINVAR:3677909 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen caf03a65-eaa7-4b17-baa2-d3f80c5f51a0 CLINVAR:3677909 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1f9236a-8972-4b02-8399-ce60bfef8ff4 CAID:CA414910923 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d636da7-8cad-422c-99d3-289d15787031 CAID:CA414910923 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f72b0ded-77f9-4baa-85a9-9e794a10cada CLINVAR:3661791 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64d43ac4-de7c-4b3f-839a-86b7b6d9c6a2 CLINVAR:3661791 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f937453-826e-47d4-9517-debe5abf907d CLINVAR:3727697 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ec9353c2-b078-4d62-a041-600a249dfcfc CLINVAR:3727697 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60e7c4b0-1bca-4891-956f-9f21767f427b CLINVAR:3651897 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e0e127e-1407-4595-87e1-b97dfb46e94a CLINVAR:3651897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a52b00b-8083-4f31-a6ec-3bf7d04a51eb CLINVAR:3727827 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f78b5000-4327-4af0-bc5d-099e11833d4b CLINVAR:3727827 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6ab3a73-cdfe-46d0-b45e-4cce470f888a CLINVAR:917689 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fd62a43-3ace-4e01-89c4-383a107ac75a CLINVAR:917689 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfb02465-4517-4f2a-9014-b3715cd5faeb CLINVAR:2840670 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ef373c0-496c-4eea-bed4-7a9ef42674d3 CLINVAR:2840670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed2a13d7-204f-4afb-aa77-6245eaf1888b CLINVAR:3693271 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6a39cd3-a4e6-4433-84a8-df4562c51bbf CLINVAR:3693271 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07376e6a-533f-4fc4-b595-7c73b82622d1 CLINVAR:3618297 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d2cb798-361b-4bcf-827f-c03d05584028 CLINVAR:3618297 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c888e9f-de10-412d-993c-24f861d3b3c1 CLINVAR:3642848 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5bdb6b7-76fd-43f3-9c86-5895fe73974f CLINVAR:3642848 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72742a4e-a0e3-41bc-90e3-463856d7d8e8 CLINVAR:553131 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2a143398-ab43-4b19-8947-d87289ae7b2f CLINVAR:553131 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 097c8049-d63c-453c-806d-79739dab5d66 CLINVAR:1321357 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f0aaae8-5446-44b4-90dd-4025790b17cf CLINVAR:1321357 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a574c14-a4e9-42c4-a389-4cf3c80f096e CLINVAR:754391 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2954da9d-2391-4e72-8484-3484c471f657 CLINVAR:754391 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5709cce3-cdef-4ac6-8bea-f9b2a64da2c9 CLINVAR:222993 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 597be6ba-51f6-46a9-94ca-fe6b521ba9d2 CLINVAR:222993 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9356512-ce0d-4612-8a48-258df7690c21 CLINVAR:1323092 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2fd03d38-586a-4c6f-ba3c-aa9726c5fab5 CLINVAR:1323092 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bd30781-a711-4d14-9be9-56c79bdb013b CLINVAR:3906898 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9db25ef0-e7af-4f63-b786-1d2707ef6ba9 CLINVAR:3906898 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75729a71-1a1e-4a62-8573-85c399dfc16b CLINVAR:2734632 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99a10bb9-07db-4271-b147-d02911bf7717 CLINVAR:2734632 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c76498d-0266-44bf-8ec1-9cf41168d876 CLINVAR:1518010 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2065676f-a2e1-43d5-a41b-13f4eec6adbf CLINVAR:1518010 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 693f71fb-1cdd-43aa-814b-ecc3a238e8f0 CLINVAR:425916 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d2e99a0-0793-4cb3-b6cf-4c47a9c4775a CLINVAR:425916 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c8b4995-ba0e-4ad4-8dbe-035d8ff858a2 CLINVAR:425917 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ecce1a5-2dff-4b24-9b3e-a26fa808ebdc CLINVAR:425917 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 159a3264-db28-4f34-98d5-a084270750d0 CLINVAR:428193 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba631efe-9997-4fda-8ebd-84ad3f4c84b5 CLINVAR:428193 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63698f0e-9e9d-436e-b172-c00595f86752 CLINVAR:929236 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a810e1a-8d65-4947-9c95-f33e7f496bb7 CLINVAR:929236 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e18e8489-3953-42e0-a04b-7854116d3315 CLINVAR:846228 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e15fe12-8ff7-4837-a1b2-01ff0e561c83 CLINVAR:846228 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cac401b-e74c-49dc-a1d5-216ea1aa289b CLINVAR:959950 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b2d30c2e-fa67-457f-bb57-d58c02d4acc6 CLINVAR:959950 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faa7d764-fa06-48cf-8cbb-a7328e6d2ed2 CLINVAR:526532 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e80b3d8-251d-4361-8628-056503347e61 CLINVAR:526532 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57fc54c0-bda2-4389-8b31-022c9f6b6ae3 CLINVAR:1684005 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd88a844-903d-4b1d-bed9-347d44c1935f CLINVAR:1684005 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c2a4009-9629-4a90-ada2-36509a3d752a CLINVAR:100398 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2de4fc64-5f7a-4be8-a7dd-643bfddd071d CLINVAR:100398 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d71edc62-cbe5-4528-94db-27ec466327cb CLINVAR:541725 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e88e208-55ec-41a3-87a7-46a1a46e9994 CLINVAR:541725 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c73f65e0-ff17-46b8-8f5e-9cfe17a4d756 CLINVAR:1021968 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d63ad925-b027-4c64-bf1c-bd89f3b3d04b CLINVAR:1021968 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46f33faf-37c5-4482-9379-b1e2ea537f83 CLINVAR:1691250 biolink:genetically_associated_with MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04cf553b-1048-402b-a194-57751ab3a60a CLINVAR:1691250 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ab10347-3221-4c94-92d8-2a97feceac22 CLINVAR:1684012 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e9c8a55-5113-49b1-ad32-c3d5971f7d0d CLINVAR:1684012 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31f4fe0d-af7d-47c8-84f7-5e46be2c2d9b CLINVAR:100269 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb80331d-4263-4ceb-be14-0d4956522c57 CLINVAR:100269 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4a3b4e4-214a-4dde-b24f-e5010952333d CLINVAR:626960 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 71eaf654-f52d-4fbb-b4d3-4a983fb2fb59 CLINVAR:626960 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72aec16c-f0d5-4a00-8a97-299a9355ab52 CLINVAR:1684483 biolink:associated_with_increased_likelihood_of MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b690203-149e-49a4-bd94-40b93fe9803f CLINVAR:1684483 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee7a3213-d247-45d5-ac08-f7dd5d79a898 CAID:CA397318622 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8ec8654-ca61-4cd6-9398-c04c2e093d48 CAID:CA397318622 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a1f5c33-703f-44d4-8408-b1d6273becb5 CAID:CA2695224141 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ad552b9-1606-4381-9fd2-7511bf49c3e9 CAID:CA2695224141 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83490b79-9d8e-4116-a57a-2c646c736c57 CAID:CA2695224140 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 114c1b0b-9e3b-4db4-bb01-df3a2982c08e CAID:CA2695224140 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baacb77d-3f50-4761-bda8-fc35ab3239f6 CAID:CA2695224138 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6cb1be73-71e9-4c00-a187-28dcad96dfd6 CAID:CA2695224138 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5069f41-42a9-4755-b091-6b61c84d6e27 CLINVAR:438884 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d2b1a9d7-ba30-43ac-aa33-2830f4f2879d CLINVAR:438884 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4ef4322-2d79-40d5-839e-66fe140566ff CLINVAR:689818 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40381c6f-ed9b-4b76-a175-bf6a432f173a CLINVAR:689818 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a964bfe7-ee38-40ac-88d9-e324116f99cb CLINVAR:689852 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e85b0f88-c349-4308-967a-8ba43837725a CLINVAR:689852 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6257923-ed44-435e-9f91-b2286899109f CLINVAR:9549 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e24fb000-bc32-4602-8fa2-63195bc6e861 CLINVAR:9549 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8648c62-5029-4113-9bad-30da9ddca1f1 CLINVAR:690050 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6de4486b-7d0a-4477-a03f-cfe77dc725e8 CLINVAR:690050 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4fe1ac1-e1b1-469f-bd51-a0f6097d95aa CLINVAR:9600 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 549513d9-b837-48d1-9983-a5633d827956 CLINVAR:9600 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21203e66-fca0-4b4d-aa23-5ad44eb2946c CLINVAR:690070 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c07b183f-1191-4e01-8b05-defd950f70e8 CLINVAR:690070 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1681e36-27a0-45d7-9a1a-bbf71b72c3df CLINVAR:690126 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 301914dd-465d-4b70-a53c-726e6a0cb679 CLINVAR:690126 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcea332a-43f1-4400-a526-fc1026844fad CLINVAR:689870 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b373946-a302-489b-83ee-c30272ff20a4 CLINVAR:689870 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93a0cdc9-c301-401a-b7cf-decad7b54963 CLINVAR:289571 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2079485b-26b3-4e58-9a49-550103dd9a52 CLINVAR:289571 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c98b09f-eba7-4ce4-ad5e-b28b63ec4ae7 CLINVAR:288438 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e2d6eef-cf4e-4cb3-a644-171c6749479a CLINVAR:288438 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8aa19ae-be46-4f3a-baca-ed2884d71d2c CAID:CA2832612269 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c66c8f1d-00b8-4623-b0f7-9c20222f7659 CAID:CA2832612269 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76343342-fb94-492f-8de9-8b1f9db139d8 CAID:CA2837582287 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca30318f-c225-4b3a-a562-ee00cb66479b CAID:CA2837582287 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 713552e9-c5ea-41d9-8930-cb40a10d1dbe CLINVAR:94344 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c899a72-dbb7-4b17-b4e4-1e7d4ed2a1e8 CLINVAR:94344 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0b8e968-6011-4157-8205-814454e16d47 CLINVAR:646166 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a5f17fa-a412-4542-840b-50836447cccd CLINVAR:646166 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b49a67a3-0257-4dbc-9aa2-b3539ff4916b CLINVAR:2912979 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75bcee7f-9354-408a-936e-5cc71f678f84 CLINVAR:2912979 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78cbdaab-5085-4832-8274-074bef15345b CLINVAR:94330 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2567fcb2-0b31-4ab8-9ce4-824f556fba09 CLINVAR:94330 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6181a32-0643-4a61-a91a-35db55191834 CLINVAR:197217 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6113e582-cf75-43cc-ad1b-8962abbca5a8 CLINVAR:197217 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fbb1ade-ddfd-4377-ba19-9d1ace1384d2 CLINVAR:94262 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df3fa2da-0f20-4022-abac-e1aace472d21 CLINVAR:94262 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ba7c62b-dce0-479b-bd9b-9a6519078e95 CLINVAR:808764 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3256d45e-b668-4f69-9457-0d93f6317a55 CLINVAR:808764 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5ebafe1-6393-4f71-9fdb-9cd507b67f45 CLINVAR:281072 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3d44607-1bd5-4a4e-b324-fe8d6a805212 CLINVAR:281072 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0ca7053-55e9-4323-b0cb-558aa281c89c CLINVAR:468648 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31453bc7-f45a-4398-8543-c20f95c10273 CLINVAR:468648 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86ebb0b1-4298-4300-a4c4-9abb3d3b0650 CLINVAR:17613 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d7a9134-30d9-40a6-a5a9-54a2042dc06c CLINVAR:17613 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79c90393-428c-4abc-b189-752e3b637ae6 CLINVAR:497565 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d876f5aa-51e7-4344-88a5-ad23ca700d97 CLINVAR:497565 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45e8d162-4d3d-4821-b9a2-c47e5b6d6f76 CLINVAR:94324 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b68ef560-361d-4abf-90a0-18a738f2633f CLINVAR:94324 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2afbac85-2d79-4cdd-b185-edd220fd8541 CLINVAR:94317 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78137f70-02c8-470b-aabb-084718c2fa28 CLINVAR:94317 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b63fc4a5-fd14-4d7b-aa37-3469c14d3494 CLINVAR:281197 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ecda0789-6bcd-4044-9a13-d09807287c4d CLINVAR:281197 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 426ae172-d0bf-4a3d-b7e4-21ac54a1de58 CLINVAR:2424693 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9072596e-d42e-4420-940a-fbe53ecc3c0d CLINVAR:2424693 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2215432-3694-40f1-8da3-4d4d01adc9d6 CLINVAR:486792 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ad285918-5b5f-4fff-81f8-0f2c4a3cd3a2 CLINVAR:486792 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c48b4d9a-6ace-4449-99c0-f6fbc2510430 CLINVAR:141515 biolink:causes MONDO:0021055 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ece8315-3834-4ab3-9307-f6f38128438e CLINVAR:141515 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4c60fdd-4adb-4735-9667-a9e6957d7a4e CLINVAR:246402 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d57dc7a0-230f-4ab8-9f10-fb6423ae9f1c CLINVAR:246402 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2910c99e-a5b4-4ddc-bea5-a600b76b967c CLINVAR:265372 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c124a121-bfc3-43fc-99a8-9d621fba7a16 CLINVAR:265372 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caccae30-8049-4b64-b067-4880aa3528c6 CLINVAR:822326 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a30ac79a-fcb3-4aab-812a-c072430039e6 CLINVAR:822326 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ad745ab-564e-429d-9278-9a8d105bd92c CLINVAR:1319598 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6995ade4-7d11-4517-b170-025bd6ec1d76 CLINVAR:1319598 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 159c2e83-81ac-490a-afe5-6711c854a49c CLINVAR:1025291 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eedba7c2-152d-44c0-9e3c-7a7cb853462a CLINVAR:1025291 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dbb0b4b-d914-4c8e-a9b0-4ade2d26d4cd CLINVAR:485146 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b25d9467-7d98-48f7-8f75-8552a67f168f CLINVAR:485146 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 722ec677-a181-4a82-91b8-117d3297e655 CLINVAR:231954 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6267dd42-fb7e-44dc-abaf-380ef77a94bf CLINVAR:231954 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89c5e282-7429-43a9-b3e8-542e3fd4a8cf CLINVAR:233890 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8dc66ccc-3e1f-4c90-90b5-1e0c78413cba CLINVAR:233890 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c328ed9-d6b3-4aaa-9368-bfd604b6ed55 CLINVAR:576816 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 456d1b31-b7d0-49b6-9ec9-1bd94266a187 CLINVAR:576816 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abdd0aee-3c23-4b6d-9609-141b3664049f CLINVAR:411406 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0ba05047-ad35-4ecd-8c0e-bbfebefb8dea CLINVAR:411406 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 005906e1-400d-40af-a32a-f3a49e641899 CLINVAR:185659 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e959ab6-350c-4c7b-a748-57d40047041d CLINVAR:185659 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a22b4c3e-2f85-4255-8c3f-ccbe2fa7b94a CLINVAR:653103 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2436488f-a97f-417f-8a1f-55429977f9a2 CLINVAR:653103 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc3e4f00-538f-474b-9766-814f36ec0888 CLINVAR:3900733 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37e769c8-dd52-4bb7-b6fd-a064fa1c0b80 CLINVAR:3900733 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52880464-0987-45e1-a686-6354bd87a5b8 CLINVAR:693373 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dece80ae-1790-4ac8-bf40-fb7652a8e36c CLINVAR:693373 biolink:is_sequence_variant_of HGNC:7459 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd0f778d-aa58-4a3f-9c69-4ab34ef344bc CLINVAR:11925 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a2558c7b-6e56-4bae-99a4-3902ef40d37a CLINVAR:11925 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea502346-88d3-4c7a-95c7-32f6b5bf6a8d CLINVAR:692983 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45131dd8-a99f-4397-99aa-9f1514fdca71 CLINVAR:692983 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40aebe12-d3ef-4be4-bcdb-7f75d1c89bda CAID:CA16022700 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83ba0cb4-37a2-4c55-87bd-bbdd91622aee CAID:CA16022700 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5560a8a1-1ecf-4b08-9a62-7a7f223ccc0e CLINVAR:827255 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3cc3f40f-cf5c-4582-a50c-326061603997 CLINVAR:827255 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 383d4aab-c176-4ea9-a704-4613cad6d1d5 CLINVAR:648862 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b9d7ee95-c1ef-40ad-966b-df306b705198 CLINVAR:648862 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d0d1df0-bc05-474e-af78-17963d7a4d61 CAID:CA2695201659 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 611cad03-9119-4126-82af-04a71c9aab43 CAID:CA2695201659 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7435ccf2-3e3b-4116-8f0d-9f213347b897 CLINVAR:654864 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b0ec82a-794d-496b-9bbf-0002f2bdc1e7 CLINVAR:654864 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 062097b8-e9bd-4286-96f4-a7629af91352 CLINVAR:537529 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 009b3a3a-e2a1-49fe-9109-1e3fcae44b1a CLINVAR:537529 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4120cb0-4369-43a8-bf73-6142e74c0b31 CLINVAR:217924 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24263e42-80aa-42f1-a28c-5cb341b2e4c9 CLINVAR:217924 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf7105ee-a5c6-456e-905c-7090aee71039 CLINVAR:690113 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79e1585d-8d04-46ec-8e70-a87f704a0c18 CLINVAR:690113 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5e4c486-fa87-41f7-907d-b16406768f00 CLINVAR:411416 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 33870a33-2505-4e7c-8c2d-732271f5d08a CLINVAR:411416 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f558adcd-daf2-4858-8778-7ec6deead8be CLINVAR:279681 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c85af6b1-3cc9-4402-86dc-ca8e8b2ed6ec CLINVAR:279681 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6921da2-1d6b-4b47-9248-3cbc4a82dd2b CLINVAR:127305 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 506ddeb4-5d7e-4cfe-898a-0bb007e8ec92 CLINVAR:127305 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 646315a6-a81f-4c36-ae09-f4f1a92de595 CLINVAR:230520 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c6fdd51d-60d0-43a8-88ca-575be873ceec CLINVAR:230520 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94e71f2e-393b-4162-88e3-9b6eaa91813f CLINVAR:428166 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b8b2cc8d-b901-4b7b-9e45-ed3810fb00b4 CLINVAR:428166 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5476727-e203-4ade-b272-929fddb33f0a CLINVAR:690177 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b3a6a97-0e6f-45d8-8950-7a5bc06321e0 CLINVAR:690177 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35ac4f6f-38d1-4ac7-9d44-569b61d9937d CLINVAR:925741 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d0d6d54-9c09-4344-8947-665a6e8690b4 CLINVAR:925741 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce0dbe6c-fe75-407b-8057-47223721c9fc CLINVAR:469955 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 368d512f-fe13-4299-b8fd-ef817f0fffde CLINVAR:469955 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18e3cc15-f1d1-4648-baa4-3f87fdbf6ac2 CLINVAR:693513 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c6ab2f1-118e-4218-b260-1e5256c37a0d CLINVAR:693513 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 485a0775-f172-4499-ae04-756762650905 CLINVAR:184702 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3bed4fb8-b398-4bee-9818-18fbb8bfa17b CLINVAR:184702 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b6d5cf4-9aaf-4d57-b1ed-f2f623b78aac CLINVAR:433614 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b24cd37f-0052-4f4f-a406-c927779560dc CLINVAR:433614 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c58c794-7376-462b-a7b0-3951e600f4d3 CLINVAR:411368 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed640872-d22a-4239-912f-6999cc4a857d CLINVAR:411368 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70f3a689-b6e1-43b8-a98d-b1a6807243f8 CLINVAR:42248 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a4f9ddd-2f54-473f-a7c9-41efeb886d22 CLINVAR:42248 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aca341a1-7d58-42d8-8cd6-34154173d665 CLINVAR:1361956 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6c452f8-4a09-4ea6-b787-5afe1889964e CLINVAR:1361956 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 958be65a-e56d-42ab-9ccc-866e216ec7f7 CLINVAR:2583432 biolink:genetically_associated_with MONDO:0021057 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 257bac08-b7ce-42c1-91d5-a7d723048e6b CLINVAR:2583432 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41101a82-3a38-4340-870d-d45759b8c670 CLINVAR:2562354 biolink:genetically_associated_with MONDO:0021057 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9cb7a7b5-1769-4bdc-ab92-a463eeee6974 CLINVAR:2562354 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87975271-a02b-48d7-84bb-c25bfe879220 CLINVAR:2773776 biolink:genetically_associated_with MONDO:0021057 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8129564b-8879-48c5-ac1c-0776c504d0d4 CLINVAR:2773776 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c13f3a5d-d16a-4d21-a2fa-93576eb66c19 CLINVAR:1050028 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 74b48cc8-7196-4c9a-b74e-c4d0a6711436 CLINVAR:1050028 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81540107-709c-42f2-8083-a2a619b66318 CLINVAR:3892980 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ee304be-6d00-4937-9f12-96982926cb82 CLINVAR:3892980 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 220455b4-b0ad-40a9-9b48-758ab875e60b CLINVAR:824696 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9e8e9ff-cd7b-4a21-94b9-87dcd14b6012 CLINVAR:824696 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 202fa9d8-36a4-4b1c-97b5-bbddbff48894 CLINVAR:411479 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06970cf3-f87b-47cf-b912-e256e8f4c15f CLINVAR:411479 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a1d31c8-7aa0-409f-8302-89eeebd51e6d CLINVAR:438865 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79f4ff30-a9a2-40a3-b0dd-d4f60cf86d04 CLINVAR:438865 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba647c01-8345-4743-b489-38ee7fb7b9f9 CLINVAR:183857 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e3997cdd-2a15-4b4b-88bf-f982eb739411 CLINVAR:183857 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2bcaf5c-2730-4ac6-b38b-54dcb5051bbe CLINVAR:934724 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 293b540a-cf9a-435e-b8cf-a89fc8a35176 CLINVAR:934724 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fd971ee-7aac-4722-ac4a-5c5c5068151f CLINVAR:1056286 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 884fd5f9-e6ec-4271-acf5-088ec63b0f25 CLINVAR:1056286 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aea47bef-0ae7-427b-99c0-754887b5fae1 CLINVAR:946475 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00731d76-0b62-40c6-ae65-99b5058c71b5 CLINVAR:946475 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 703dfa99-92a4-4b1f-a442-0952271c53d6 CLINVAR:1342107 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e17379b1-dfda-4d55-a7d8-756415644b7d CLINVAR:1342107 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dec7c00-0176-4ba7-be50-063698d62f07 CLINVAR:866404 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b583cf02-ed6e-41c3-ba44-a7574f5e2d06 CLINVAR:866404 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59ced470-fe14-4577-9757-208a60d82905 CLINVAR:423184 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f398e84-a835-434c-b4bc-60a5ddf894f7 CLINVAR:423184 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94a43331-b9d2-4812-b983-c9fdc7f7d84b CLINVAR:68077 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9496a685-61f4-4d36-9e2a-4b878e97498c CLINVAR:68077 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b472b6bc-b084-40c3-8e2e-158c7a746a2f CLINVAR:371642 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4342c61-4c25-45b0-b093-009d4fcf3948 CLINVAR:371642 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0408ddd-9ea0-4997-926a-43991e26519d CLINVAR:372497 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe7ad65f-f372-47f6-b07b-eb15cac2214c CLINVAR:372497 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85c3e54d-6739-49d3-b9b5-c96d8d305109 CLINVAR:99014 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 365e34b1-3417-49cd-be2a-817687d2436a CLINVAR:99014 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e028a1b-9a5e-44ba-9b7c-f9e13762387e CLINVAR:98996 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0425270-182c-4307-b7f3-1f9c9687cb6b CLINVAR:98996 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52444317-292c-407d-8fbb-e4d1f08d87c2 CAID:CA412370589 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 908f854e-32b7-4f9b-980b-28a1760873a9 CAID:CA412370589 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82ff9e85-c4e3-4cb2-a1ad-732662168477 CLINVAR:279886 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87260c37-ac8a-436f-bc4a-f7dbdb4588db CLINVAR:279886 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00a28fe1-bf6d-4fd2-b883-f74959f7e7ca CLINVAR:370754 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a1a952d-9997-4e40-b3f8-bbc3b9e2ed86 CLINVAR:370754 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73a1554f-ae3d-49ca-9f92-add04bd5b8c4 CAID:CA412371717 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9165aa2e-2068-44c5-bf9f-c29b79cf3ec4 CAID:CA412371717 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5483a5c0-7462-434e-9f34-059e3f3d8a1e CLINVAR:798785 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f31df08c-915b-467a-add7-fa5452bd26ec CLINVAR:798785 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00d5be0d-aeeb-47c2-a326-c2e89b4c0004 CLINVAR:98958 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69ea896d-3818-4b3d-b183-41f216a95f4a CLINVAR:98958 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bca1e1e-d37e-4b35-9080-a4c6fe15cb47 CLINVAR:98943 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f4522508-25e9-476b-872c-09b42981883e CLINVAR:98943 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05e1b152-407b-4615-a681-fc3cb1fc71cf CLINVAR:98936 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42f092d1-d7fc-478a-9265-593a5c215dcc CLINVAR:98936 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bb75db4-21e8-47e2-8ec2-11583d41d9f0 CLINVAR:9887 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9fe406a4-2adc-4690-9dd2-f447aa3351ef CLINVAR:9887 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b0cc35e-35cb-4fad-846e-d4454b2d7121 CLINVAR:98925 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 012d0a8a-fd4a-4991-9732-8f8cbb0a7531 CLINVAR:98925 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0b5a1a6-e5ad-4379-b616-011d240033fb CLINVAR:98921 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf52e4b4-1250-4e35-b137-d80a4d344ed8 CLINVAR:98921 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4011543d-443d-47fa-910a-e511d0c242c8 CLINVAR:1066419 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3949e57e-0035-4885-a315-62cd906aeb22 CLINVAR:1066419 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73399fd4-8552-4369-af73-1a0b34172664 CLINVAR:449509 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e28c0a7-badd-4c42-b959-8101204d4513 CLINVAR:449509 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61ba2bc0-237c-4a20-b050-a6849e8fba5f CLINVAR:9888 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8fd623d6-ab9b-414e-bff6-0d62b7a08b5a CLINVAR:9888 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2c6f786-eef1-457b-8e9f-22540611d814 CAID:CA412372976 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b46ff9b7-6aec-4452-af59-36ea313a92cc CAID:CA412372976 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fe337f2-30f4-49bf-bd3c-52c68d9e4c3c CAID:CA412376053 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a2cf8ed-6dbc-45d6-98af-e8495aaee38a CAID:CA412376053 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8465d6d-e5a7-4ae0-93d7-cd06a2a39d47 CLINVAR:1419115 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 354cf520-d096-400b-af2c-7281d65e1f55 CLINVAR:1419115 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddd727f7-7bbd-41e0-bdf1-6a169586c42c CLINVAR:1687568 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8f61061-5a1b-4ddc-ad7f-93060d1c00e1 CLINVAR:1687568 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb78f705-fd1a-4d70-a874-e47cd48780a5 CAID:CA2580650463 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5f5c364-7068-4bbd-aa62-2f174d2414b4 CAID:CA2580650463 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f62ee9f7-7db6-42e4-917d-f21978b81853 CAID:CA2695231369 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5a0533ba-da9d-4ca3-9e15-f888dfaded12 CAID:CA2695231369 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bcee83a-9ee1-4bb3-a421-8105c924fbae CLINVAR:99022 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b42a24ac-0542-440b-b8b2-0ace445fcc47 CLINVAR:99022 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b370ed22-2a4a-4ae5-8fa5-1566dde42fef CLINVAR:99021 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 05fc23a5-6024-4e69-95ae-56162346b3b6 CLINVAR:99021 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7657329f-f4b0-40c1-8634-43d6be9e4852 CLINVAR:99020 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a658eefe-a1fb-4934-a605-9a14cefc999b CLINVAR:99020 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60ba49a4-e297-4cf3-8dac-ecf94062faac CLINVAR:1063524 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eedc2156-7808-402d-8c0e-ea742ee791d9 CLINVAR:1063524 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57513899-bca2-4f0b-9101-bd514ddf0044 CLINVAR:1048161 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c4235b74-ba90-4092-be72-b470c9f1584c CLINVAR:1048161 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16e86b3f-0268-46cc-816f-5750724335dc CLINVAR:1421996 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d267cad7-ecd3-4be6-9d4b-359b6bd95afe CLINVAR:1421996 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 723ea77a-2f7d-4be5-b82c-f5ae7644160e CLINVAR:98946 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17cfc317-d53b-4991-a9fd-287eae5f8178 CLINVAR:98946 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 033472ec-b6aa-4647-8f2e-ebd48334c2fc CLINVAR:98944 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 70feaa15-ea6f-4dd9-96ff-1ccbec64a443 CLINVAR:98944 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab82527d-e9ce-4d7c-9cd3-e9b4c226847d CAID:CA2695231613 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87d6f356-5520-435a-b2a7-8413606d84ed CAID:CA2695231613 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b89995a4-80b6-4835-a460-1b0661cb75c4 CLINVAR:488837 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen acdba70d-f2e3-45a7-a622-c04b797fc324 CLINVAR:488837 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccd1c063-fb50-477e-a2db-97f597bccf50 CLINVAR:555986 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52fe1173-24ab-42f4-aa58-a6b8cf05ec45 CLINVAR:555986 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dbb2ed1-923f-4e92-b719-6353aa2f9881 CLINVAR:501793 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 329bc57e-731a-4b76-a3b4-e7c6dfd6b8c1 CLINVAR:501793 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31e1994d-5c7f-4b33-83fc-0c07f83efd60 CLINVAR:2160730 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0862310f-413c-4941-aa5c-a959755b11c3 CLINVAR:2160730 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42b64075-5187-4ef7-9110-0afbe824d411 CLINVAR:571521 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3d9bf64-cab1-40c2-9ef2-8914c68a002b CLINVAR:571521 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0bb45e6-9612-4a34-8a35-338de379bad9 CLINVAR:281056 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0573911b-4e53-4cfd-8fb7-9d2aa3bdaa1c CLINVAR:281056 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c397b91f-1d35-49b5-bdeb-ca473343d7ee CAID:CA913187388 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf9abb48-b6d3-409e-94cb-a500753d212a CAID:CA913187388 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c516816-3e69-4956-976e-083d7f708077 CLINVAR:98732 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b06f12c6-4741-4379-8ec4-1b79b01d11da CLINVAR:98732 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf8309c4-e61d-4a4d-8aa7-cd17926318e7 CLINVAR:236481 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f0e0569-6247-4c67-821d-82c6198cfca1 CLINVAR:236481 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bd7eeaf-d09c-4fc8-97b1-aeb7a7d43cec CLINVAR:92858 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14e7ae91-6cf9-4eae-8da6-6a702c4bf0bf CLINVAR:92858 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7d60dd0-acea-4f36-8f31-d3f89396420f CLINVAR:98796 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 73ac2458-d77a-4f45-9aef-00fb6740662f CLINVAR:98796 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf6f074e-e8eb-4bad-957f-dcfd72434eef CLINVAR:1317013 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen edf34ae5-d9a8-4a66-9910-0bb87e2362e4 CLINVAR:1317013 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a70754a2-8ce9-42d0-988f-2fb29c828dcc CLINVAR:143094 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bcd8295f-b08a-4efa-bcfe-fd80c95eebfd CLINVAR:143094 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b948913-9815-4b6b-8658-90d7119730e4 CLINVAR:1213923 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f8db8e6-e7a8-4f63-b394-5d7bb8664631 CLINVAR:1213923 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6f55dcd-8bd0-4a4f-ac86-02f7b32f7293 CLINVAR:236483 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d5285cd-e42a-4fdb-84e9-01f4c1c7776b CLINVAR:236483 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 001ac455-7091-4ec5-8d37-dad7188d6116 CLINVAR:9899 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ad6af5e-d829-4efd-b2a5-3f541079c04b CLINVAR:9899 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81bc631c-081c-454b-9fed-936e4953f749 CLINVAR:98802 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0886aaa5-841c-47b7-b37e-9b3357455640 CLINVAR:98802 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e67b91f0-7efc-4015-aff6-888293249288 CLINVAR:198414 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ea9d0692-7b45-469b-84c3-432e886c195c CLINVAR:198414 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36f5a671-8d28-4824-ae32-5797239701a0 CLINVAR:449508 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d0a97f8-71a1-475a-8e5f-1b9089fc52f9 CLINVAR:449508 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97125f3a-db26-48e9-b07a-33ced2bcd769 CLINVAR:1497214 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b216638b-3459-444c-b8c8-f958580da49f CLINVAR:1497214 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e2834db-5bbf-4a5a-805c-d6f32874c7b8 CLINVAR:812421 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 35c43010-04a9-4f92-880e-8f8717443b16 CLINVAR:812421 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63076e12-dc0b-4234-9b42-b9effda94617 CLINVAR:636203 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e661151-adf1-42b8-b07c-55cccc3b64b9 CLINVAR:636203 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9862f598-4d52-484b-b3a6-ed2bbce14e40 CLINVAR:9897 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eaaea27d-f730-4b1a-8746-30afebc7a71d CLINVAR:9897 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23336228-d396-46b0-9a96-d14aef5eacf3 CLINVAR:813227 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0adc7b99-7714-4b9d-81d0-e65b506e3c80 CLINVAR:813227 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecafc62d-8393-459e-9867-b2491d9cd34a CAID:CA412725852 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7fc612fc-82bf-4d54-9960-7072afe995f3 CAID:CA412725852 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77ac6b71-ff41-4c13-9ae0-67c8c1ca8b21 CLINVAR:931960 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe2697d7-0269-43f2-8748-97e97423a874 CLINVAR:931960 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e04c8402-0751-4b5f-babc-5895097fe094 CLINVAR:1012373 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c9c377c-1e0e-4ddf-bc22-787e4cd3f3ca CLINVAR:1012373 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57733761-4b80-487f-b291-7fd5c623a27a CLINVAR:810564 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7054accf-d708-4cc1-a41d-158b8c72b42e CLINVAR:810564 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c079dbd1-6fc2-4cee-b20a-401209478f13 CLINVAR:280089 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9cdedbe4-ab38-4f68-9767-96ce72845d4e CLINVAR:280089 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cba8f49-1cfe-4922-af06-671857a73c67 CLINVAR:1356123 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6ed2cadd-6c3e-4a72-8b15-500acaa7d428 CLINVAR:1356123 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67a60ce7-f258-434a-8991-be21b7dc4f17 CLINVAR:867211 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 62783814-575a-47d4-87a4-1c56e601c142 CLINVAR:867211 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1edf8976-999e-4126-b51d-6127033f1ad7 CLINVAR:3028605 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 41cfa921-cd9d-4307-96cf-c87cbb9bfada CLINVAR:3028605 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e47404b7-4db5-43d0-9b51-3c110cbe9d01 CLINVAR:1048123 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4079344-7082-4d0b-b425-34886cb1ec0f CLINVAR:1048123 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd8a4230-f48b-4b32-baa8-ebb97249f84e CLINVAR:1172696 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e98241cb-e77e-41b0-a2cc-b5455c78f7fc CLINVAR:1172696 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62fcb9f1-ff56-407c-abd2-a62603d3489e CLINVAR:91389 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9165fd3a-e3e9-45f1-86fb-6fb9fb46018c CLINVAR:91389 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d037c101-3260-44b4-9914-4fbb6da48354 CLINVAR:438142 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00726f0b-3433-4136-971a-065c8673a5c2 CLINVAR:438142 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe4b209c-2690-4b6a-a155-c67b73c106a1 CLINVAR:866109 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b877748-c5c5-499e-a828-17df5da16b8e CLINVAR:866109 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cdd34a1-bd03-445c-ad3d-4f911683a199 CLINVAR:9902 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b27b816-7381-4169-b7cf-407e289fc2bc CLINVAR:9902 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 518fff57-e0f7-4813-9e75-a2f529a5d43d CLINVAR:642531 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5369214c-e840-49eb-9408-a7a8717dfbe4 CLINVAR:642531 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 656a02b8-7ecd-4ec0-b9f6-943d5eac77c4 CLINVAR:690133 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a8d7cca-f2a4-4604-a549-1af705b9c7b2 CLINVAR:690133 biolink:is_sequence_variant_of HGNC:7487 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70586c58-3473-4cc7-9bdb-31ad1e2859e6 CLINVAR:692855 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8342fde-decb-49d1-b875-c2724fcc79eb CLINVAR:692855 biolink:is_sequence_variant_of HGNC:7415 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9f53482-9ae8-4a06-b904-07492f40ab4c CLINVAR:567566 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1b42948-7a17-4e01-a4be-84a5ef77caea CLINVAR:567566 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ac3e46a-461f-46a3-9228-b59ed551068e CLINVAR:1458772 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f795274-31de-43b2-9316-330f0ce3a3b8 CLINVAR:1458772 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16ef6d87-a484-4990-95ab-b9ae7e8cd13b CLINVAR:193062 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0debb3df-eff2-49b8-b170-6cf9e985855c CLINVAR:193062 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1486c094-5bba-401f-b21c-6a059bff9709 CLINVAR:801086 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 09394c74-8203-44c0-9bb7-3e54b2bb6aeb CLINVAR:801086 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8f734af-17cb-4636-bced-f84b93bfb066 CLINVAR:125519 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6556848-6916-4f01-bf7a-f1b8441ccfea CLINVAR:125519 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5478e147-9d46-4aae-a809-5bac8f1a730d CLINVAR:409353 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 79bd9230-23ba-431f-a81f-adce9c47bd5f CLINVAR:409353 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2966cd30-15e8-4078-87eb-6509f18b378c CLINVAR:631061 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9d1f2c3b-89e4-4094-aeae-71fd4ce2c5ae CLINVAR:631061 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fb4ba28-ae86-4b5f-aa13-c2a5b2872c29 CLINVAR:441298 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7f6406f-54e8-4e53-b64b-5dcb4ddcc406 CLINVAR:441298 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 775ac9f5-c1a1-44f0-b71a-3f52758ca1c2 CLINVAR:230862 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ffa2d737-4c33-4ece-bc9f-0ef53ade44f3 CLINVAR:230862 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 715b2bf6-1654-42ac-bb78-fab73003a911 CLINVAR:142617 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04075488-0448-466b-bcf7-f72a9a93b2ed CLINVAR:142617 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2658d299-4581-4542-b481-4f89b5ce1247 CLINVAR:568479 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78ceaf5c-4123-4ade-97b3-13082d60212c CLINVAR:568479 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05fd2dfd-871d-412b-aace-8613d06e99c5 CLINVAR:531302 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6661596a-ed14-40c6-bfde-0037514bb0ab CLINVAR:531302 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6d849a2-0537-4420-a629-b4401439fdf4 CLINVAR:125777 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d6337dd-a1a0-40da-b4d5-ee8ad732fb76 CLINVAR:125777 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fe302d8-821f-4a03-a3fc-ffff23b6dee7 CLINVAR:483130 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6c057ef6-14c2-4948-8455-17739cfa7c3f CLINVAR:483130 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a09bf6aa-5672-435e-81b9-e9eae51f34be CLINVAR:927378 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee748955-af6f-4247-8fda-aa513f891d60 CLINVAR:927378 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8d398ec-84e5-478b-8900-ce2888d20172 CLINVAR:656566 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0524732-9869-453f-9026-938c7e7eeb1d CLINVAR:656566 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c78db3bb-26dc-4e99-9470-d0993213272d CLINVAR:96950 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9cfdf872-b98b-4342-895a-0283fae6f0e7 CLINVAR:96950 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbc44de4-bf6b-40c6-ae8f-54b54665b8f6 CLINVAR:55383 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 45640beb-43bc-4c0b-9962-a68b5e2e98d7 CLINVAR:55383 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47f27c9c-75fa-450d-8b19-91e9030386fd CLINVAR:232955 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c9b49b1-7d29-4cf1-a99f-204ce5cafe05 CLINVAR:232955 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30b750c0-f259-437d-9611-e23d71acc4b1 CLINVAR:575178 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4cd28d8e-c147-423f-8a56-06455ff16860 CLINVAR:575178 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4184c6ed-8559-461d-a844-5045e49e143d CLINVAR:438744 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 52a37813-147d-4b7d-8a9e-83ab84ec3e05 CLINVAR:438744 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3eb028bd-e6ae-40cc-bc93-085bf5485509 CLINVAR:551563 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc306af1-fa9f-46fc-8507-4f9fb3df679f CLINVAR:551563 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e77b7927-c827-4879-8a0a-ad0fbaf8cad7 CLINVAR:3233261 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a981a55b-4e03-4943-8a4b-566a50945efa CLINVAR:3233261 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66b0b498-8e3a-4cd8-b874-e084551b3dca CLINVAR:3906899 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61609d17-2c34-4b61-b473-561426843f07 CLINVAR:3906899 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e778b37d-680b-43aa-8770-d7ef0edc474e CLINVAR:2498386 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e36ccced-917b-40f0-9e91-45768f66f2cf CLINVAR:2498386 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03d2246c-3af1-452b-b525-ccb97476b9c6 CLINVAR:474890 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc6247f1-3ec0-450d-a32e-d3c840b81756 CLINVAR:474890 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8aab175c-efe4-40ca-8313-26bf3e571280 CLINVAR:693726 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c2069ed-6427-40f4-adf4-7f85fc2ef0b1 CLINVAR:693726 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24901dd2-f744-4206-90fc-f5f0bd52d0a4 CLINVAR:3900732 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60d8d622-1c24-47de-a75a-048fa18a013c CLINVAR:3900732 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c68adcc7-75ea-4172-b945-1803f81241dc CLINVAR:693057 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aff9bb93-9bca-49f2-81a8-d077445516e8 CLINVAR:693057 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f25323dd-7c7d-46f8-b9c1-1cfec3f35b66 CLINVAR:9584 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0471b80-3468-4507-859f-855e77ac4b86 CLINVAR:9584 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2e54cc8-984a-4741-a700-3bb05b940137 CLINVAR:2716683 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8920feaf-8305-496e-ac48-e6a00bacbd49 CLINVAR:2716683 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf10b4d8-8cd9-4a35-bb5a-b6e0ef3cb3c6 CLINVAR:3063964 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0deec559-ec77-427a-85a4-2e065a64dfa8 CLINVAR:3063964 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 607c6d9e-695e-495d-8c21-43574b589c10 CAID:CA409108099 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f0328d3-3e75-4597-99f6-b1d7be89a496 CAID:CA409108099 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80be5030-c45d-41f7-af11-b77266849027 CAID:CA9870403 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ebe83543-cf20-4fdf-b376-c9406b1ee04a CAID:CA9870403 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbf14a45-2cad-4c54-9609-35cb2030a82e CAID:CA409109838 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 16fde04a-b3a5-48d6-8c68-481af7e7356b CAID:CA409109838 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53d76711-da77-4491-9bee-b2b9f84058a3 CAID:CA367400174 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fca59eec-51a0-4f84-ab07-fc2193fb2b87 CAID:CA367400174 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c795ef6-0c95-4961-8bba-48638dfbf71e CLINVAR:1705456 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2dcd3b91-8304-4361-8d19-48373a9a2b00 CLINVAR:1705456 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8a9919b-bc57-4b94-adc2-0e009431a64c CLINVAR:36268 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 909c5d98-5ab6-44df-a353-2c67e00ec10e CLINVAR:36268 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7caf401-7edb-46f1-a961-8b481284c166 CLINVAR:804853 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen acaf27ac-21f6-4dff-bed8-c24ec6f3a4ee CLINVAR:804853 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1edb231-154e-4760-a59a-ece88e4d5daf CAID:CA2837995533 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6619a1cf-222f-45b0-a564-1ee82f9b849e CAID:CA2837995533 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2c67f1d-c166-43c0-a75b-91d389d850f1 CAID:CA2850445536 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c17558c-fbed-42d4-bc01-4c6272c465ba CAID:CA2850445536 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa3b4fc1-85bc-43c8-8ad5-bf6fe65f7eda CLINVAR:1691363 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06e706f8-c0b3-4234-8ede-5320ac867d79 CLINVAR:1691363 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43a722ff-3ddf-4492-a332-3c52e70e6bb3 CLINVAR:36168 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 518d238c-2f28-4bc7-9be5-2278e0c4d5ba CLINVAR:36168 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8b76932-0a53-42c4-99f0-892fae8e4c3f CLINVAR:36179 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 975af85f-3aa5-4c9f-b3da-e8fc41081841 CLINVAR:36179 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 752844b3-12aa-43f7-b771-6d28133dc826 CAID:CA367398715 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f076c66-7376-4001-81f9-62e2a5d6fb70 CAID:CA367398715 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a0e06fa-b69d-44d3-aacb-a0e1d3ef4d84 CAID:CA367398710 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1cd00296-9aae-4e88-a209-66c388a3efbd CAID:CA367398710 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00fe4919-6764-4944-83fb-9ad289a438aa CLINVAR:982610 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3e7bc28-b1da-452d-985e-7a9f1d8c1aa0 CLINVAR:982610 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9d05ef7-3e58-414f-ae4a-a5c4482bf66a CLINVAR:618728 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d11a2ae-7888-4871-a999-308a2706462e CLINVAR:618728 biolink:is_sequence_variant_of HGNC:7459 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c3c4a7f-7c67-40c4-8ddb-caa4ae1aa71c CLINVAR:618217 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6bd27ea-c8d4-42ce-a1b9-2531b76bc2af CLINVAR:618217 biolink:is_sequence_variant_of HGNC:7460 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c65647eb-d5f4-45b7-a97a-f2109420b4a9 CLINVAR:377340 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94acd689-70ba-40d3-9da8-e022d6eff624 CLINVAR:377340 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 542b15ed-5d99-43ea-b9d4-806e54d76be3 CLINVAR:618720 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6108a41f-c89e-45db-b126-4efd2895f346 CLINVAR:618720 biolink:is_sequence_variant_of HGNC:7415 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8a9faed-9928-4524-aa85-6d7885c3546a CLINVAR:465208 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b06426cb-f591-4222-9fff-39c6fc8467ea CLINVAR:465208 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f47a457e-2a68-4d5a-929b-90fa051a7ed8 CLINVAR:9582 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46f4dbd3-d0a1-40be-987d-4d1c23110808 CLINVAR:9582 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89ca2fa7-728e-419d-9b79-a587741c596a CLINVAR:252021 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25ad175b-babf-496f-9ff0-51a8bd9cfad7 CLINVAR:252021 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db2d60fe-469c-4468-ae97-881e2bb1eb03 CLINVAR:252052 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d8e82ef-d5d0-4ba7-bcef-abf731b1311d CLINVAR:252052 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c58f48f-dbe6-4d85-914f-b1eba06e9626 CLINVAR:1171684 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7da3bb3-5df7-4040-8c0d-0729016e999d CLINVAR:1171684 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a0eca63-822d-411d-af0f-dee1e1071117 CLINVAR:9652 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b906a937-c8a5-4c9b-a1a3-24b015171461 CLINVAR:9652 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c83b9734-37f8-403f-b8b7-6f4bc4d8e0f0 CLINVAR:235260 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a5f7fd6-4ef9-4513-82a9-a0b5945ec0a0 CLINVAR:235260 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f3daea1-ddd6-49e8-ba0f-d9dd19e39d8e CLINVAR:254354 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 489418c3-046a-4f1b-a3ab-7baa8177b3df CLINVAR:254354 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 771fc66b-36b7-4cbf-ace4-c5b56c09fc64 CLINVAR:692346 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1892eea1-76b9-4c37-8d98-1690cdb1d751 CLINVAR:692346 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2192705a-2ad5-4916-ae2d-e725339a0ba3 CLINVAR:933083 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd82832b-df9e-4596-ad5e-f5e0b368c403 CLINVAR:933083 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ec3682c-b1cb-4274-aa0e-a8ca82e1487e CLINVAR:933091 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 964aeb1a-4be0-4c5f-8b37-cea9eb277014 CLINVAR:933091 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4d33937-5a39-43ff-9a36-191fc568f007 CLINVAR:933010 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 805c1358-3d97-40a6-b0eb-1f36ea758a2b CLINVAR:933010 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29b43ea2-a9d3-42a1-8273-4c72d3ad7193 CLINVAR:9721 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f178b3e-6d93-4a96-b9a0-21e7d8b40e8c CLINVAR:9721 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04999afb-c2a3-4b97-93af-a09c4d74e18f CLINVAR:9699 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ecc5b576-f254-489b-b0f5-34d189e4a707 CLINVAR:9699 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38fc0dbc-e9b5-4186-994f-82d499871980 CLINVAR:9704 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84b2213b-284e-4321-948f-8120b4ab8689 CLINVAR:9704 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25856f4f-a27d-4377-9132-9ede5901be6b CLINVAR:1338262 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f00aeadc-422f-4756-a8fa-31187b15715d CLINVAR:1338262 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecb1ad0f-5c1e-4538-a071-a991b3111181 CLINVAR:224543 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ad79d8d-11f7-4287-9085-56e4c96bf047 CLINVAR:224543 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff56a308-1315-43f2-8818-cf24125b5fd6 CLINVAR:536548 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b71b1897-d2fe-4193-9454-472d8b4ff20f CLINVAR:536548 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 165a18fe-4195-4dc8-b11c-b1246226d861 CLINVAR:497201 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07646f7b-6daa-4c34-9c7e-1606b45c0f98 CLINVAR:497201 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cef4667-9437-4abf-a64c-7aad76c87d5c CLINVAR:281505 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ad24063-44bb-4c69-88eb-04490687631f CLINVAR:281505 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fa5bcc4-4fec-4885-a22f-f439ffb5b934 CLINVAR:282494 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c2af897b-2357-4c38-9107-9ddcce195930 CLINVAR:282494 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 781c60ca-a34f-4091-bc42-bd1d8a658549 CLINVAR:282173 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc9ca27b-b99a-4246-af24-0bd3694daec5 CLINVAR:282173 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0e56115-8bfe-433c-957b-21f51e3680fc CLINVAR:194691 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5ea5467-b24b-4b8a-856d-34ab16d57be4 CLINVAR:194691 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d62edee7-a01f-4e09-b3b2-db7fa5707b4f CLINVAR:283099 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4be16154-351d-424c-885a-28c33ac69d2a CLINVAR:283099 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7a3a45e-77a5-4461-ac7f-eae4a8f84c48 CLINVAR:370730 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a9338226-1805-4f70-ae25-41cc8e7b25f5 CLINVAR:370730 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 482c3ecb-6838-400e-bfb1-3f0e36ecf089 CLINVAR:2441107 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8fd43d2-eb7e-4e08-804c-aa14c67566f4 CLINVAR:2441107 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4c05140-ef9f-44b0-aac9-bddcca0abe04 CLINVAR:498619 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f4ac58ca-3d67-407b-8f66-0c2265221e0c CLINVAR:498619 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b92e7f8-9ea8-446c-8af9-aaf7f33fc6f4 CLINVAR:2674975 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34594f89-d635-4879-9f37-96fbbf6f564c CLINVAR:2674975 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e104a34c-d025-4c26-94df-ff878a38ff5c CLINVAR:639814 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5ab7f74-526d-43ce-bd89-8d26ff0a5532 CLINVAR:639814 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91d35c85-895c-4815-81bc-b8ed4fa437a5 CLINVAR:596644 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bebb012b-6a03-42ad-8795-9881ffc558a1 CLINVAR:596644 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2759a11-e67a-47b3-8420-946d80871f5f CLINVAR:1685801 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 043879ad-eae4-4d0c-8c58-d0b96f421898 CLINVAR:1685801 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5fdaf4f-88b1-4e7b-b700-994d1de64c44 CLINVAR:2136509 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3903f2a-0a6a-47d7-a2d2-ca72fbafd67d CLINVAR:2136509 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb324e8f-0a40-4452-a6f2-7e5841094e76 CAID:CA367398723 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9babade-03f7-4e62-b4a1-02933ea5224b CAID:CA367398723 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff6679b5-6495-4889-98fd-183ba84c1eea CLINVAR:995100 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ebd4cb3-d948-4ab2-9e99-a0ff9cfee70b CLINVAR:995100 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55d24124-9c2f-4155-89d7-c4566f6373e5 CLINVAR:1734018 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6bba9958-7cae-4c3c-a806-0d841692e7ce CLINVAR:1734018 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14786a89-707d-4031-ba90-e03f29de775a CLINVAR:804836 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b6e4f679-4938-4509-8588-d37d0ecc2e90 CLINVAR:804836 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5d0d4ef-b2ac-4350-9a3e-5c7be3e699ec CAID:CA355962322 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 75ffcecc-3bba-4c4d-9da7-6662ba0c703f CAID:CA355962322 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 765acecd-176a-4921-b7ba-7d4b6f85d29a CLINVAR:1468875 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4cb93448-fd01-4736-bd92-a7ec960c453d CLINVAR:1468875 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83c98c02-e060-4adf-aedf-752c4c46a99a CLINVAR:496834 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c464d9a4-aed3-445f-925c-5c36b1bf7aab CLINVAR:496834 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb50fc55-efb4-4e83-842f-0d141eeff6bf CLINVAR:280976 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d96a02ea-5035-46fe-8b15-0fd693977f26 CLINVAR:280976 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c1fc184-f586-44f0-a0e3-7d72752c42b5 CLINVAR:2152483 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f043a45-d1f7-4db0-a3ca-e8fd539cac1f CLINVAR:2152483 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d292ae9-ac66-4259-a38b-e4659f4979ec CLINVAR:222996 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f40b373-954c-4e70-8237-c453428f0c09 CLINVAR:222996 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e637e196-3a2f-4ee7-b366-b9d6cc811633 CLINVAR:286242 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 99a8bc56-421a-4905-a9af-e5ce072dfbcd CLINVAR:286242 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29d41a10-2ff6-4b60-955f-4f3432982260 CLINVAR:950889 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39549f09-4fef-4de5-8c7a-da700be2cece CLINVAR:950889 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2cda4ea-e0f0-4dc6-a871-a19ff6b0e1cc CLINVAR:550799 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 55404e6c-0bd6-4b0d-86e0-1e86f08023ea CLINVAR:550799 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac77b127-d589-47af-939c-982fae60d437 CLINVAR:265418 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6eacd522-cfae-49d3-8b5b-429e82585ac0 CLINVAR:265418 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fa9e7ff-3033-45c6-a080-fa9e9a2f9f6b CLINVAR:652306 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb01393c-eabb-4fc3-b7df-5e426cb72da9 CLINVAR:652306 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 301d9d58-8141-4e2e-b98e-4d7f7e1b674e CLINVAR:553173 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d26eaec-5eee-4a2d-b299-ba31f7becda0 CLINVAR:618502 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7488390a-075f-42bc-a430-cad5f44b3842 CLINVAR:618502 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41ddf9b4-17fe-4ea4-b90b-eab84e2f6bdf CLINVAR:474879 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d332ed0b-d297-4f05-a6e1-c758db26eb77 CLINVAR:474879 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de642e09-72e0-4445-ab95-a474e172826f CLINVAR:639569 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a662e504-c5ed-4727-8794-96b2b63998a1 CLINVAR:639569 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d78b5301-a7b7-4464-99fe-232d1a279bdc CLINVAR:383542 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1715170b-cd7e-4622-af36-a88fc0db50cd CLINVAR:383542 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 134cc538-0db6-4a25-92d8-80db56c41356 CLINVAR:1942331 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e050d04-5c62-41df-a390-c78de6069adf CLINVAR:1047359 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a768136-3700-4baa-9685-b2c5cae455df CLINVAR:552081 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 196e5f2a-5265-40f9-bb49-04684d211ffa CLINVAR:970368 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06798d18-8499-4312-b6dd-937b6444dadd CLINVAR:558632 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0c5e534-af1e-4464-907c-dfe2181fc6d8 CLINVAR:558632 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00e4b82a-5033-4f12-a263-a9c0d7484a35 CLINVAR:556949 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf56630a-044c-4b6a-934f-0ce447aa8a2a CLINVAR:226361 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59f40b47-eb82-45ae-9c48-2e27658f30ea CLINVAR:226361 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65f7c3c3-076d-42cd-9f68-589abd8cf4ee CLINVAR:3073518 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50a868da-ff27-436e-9ed9-88f50fd8b145 CLINVAR:3073518 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04ed6247-e6bd-4ba6-a16a-b97477c0c5ce CLINVAR:251855 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 35f47795-be3b-4150-b229-cb79118db681 CLINVAR:251855 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa344bc1-5525-4749-a0cc-f26b8ff21730 CLINVAR:328055 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 212db7b9-360b-4ed4-92f2-7acf6ab2a558 CLINVAR:328055 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bc0b227-33cb-4ded-997a-c9a706483f61 CLINVAR:375815 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13de62ce-4fed-477e-a430-1e2506cd9ab9 CLINVAR:375815 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fee240f-3331-4053-a207-bdc41276f5ba CLINVAR:430690 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c3845ac-6c5b-4e0a-95fa-358d1d400a65 CLINVAR:430690 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b3c3973-80b0-4691-9fe2-6997292458f7 CLINVAR:3758005 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c01b348c-a3af-49d2-a2ee-1b958787fb53 CLINVAR:3758005 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43acfc04-8bec-4368-a464-77b5b53e2ddd CLINVAR:98851 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1675f437-17a7-4597-86fa-eb85d6f83d6b CLINVAR:98851 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77da6b2e-796c-416c-802b-57c81835bb5a CLINVAR:2202769 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1adcb7fc-814a-4a6b-bc2c-7e707c6fca5f CLINVAR:2202769 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35cf2c0a-6d7d-401e-bdaf-f4ebf9fa87b1 CLINVAR:973961 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 282326ea-968c-4f5e-8959-77c213467e84 CLINVAR:973961 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3f09fad-cb70-42d7-959a-e8222138e808 CAID:CA340740587 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15f80061-aab9-4ce7-8339-c0dfd40ebda7 CAID:CA340740587 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef9b2587-d0b8-41cf-8b82-720476860a9f CAID:CA2586966740 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60bc040e-7d61-48c9-9c7d-86ac0526e8b5 CAID:CA2586966740 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86ad06b3-6856-4520-a8e9-8e16dd7344d9 CLINVAR:801494 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f00cf3b9-bab8-4457-8f63-36f5678f7f41 CLINVAR:801494 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bed3044-98ba-4965-9d22-c7ad2d64489b CLINVAR:98858 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c6fd29e1-d061-482b-96b9-0fc0a70efdaa CLINVAR:98858 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef92ae92-77d3-48cf-b63b-59b98dc9e09d CLINVAR:98864 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2a3f0485-5dd1-4add-9f49-fd287760f1a1 CLINVAR:98864 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a163db8-2d62-4438-8a62-36dbfd6fb058 CLINVAR:978980 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd2268ba-5e1a-4fc9-9566-b99d14c782f8 CLINVAR:978980 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af0f2adc-b857-48ed-a274-ba72efb1dcc6 CLINVAR:9661 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1447b21-18a3-4724-ba24-ae964bc55cc7 CLINVAR:9661 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 044e9799-f5b1-4a13-a42e-806d0fb7b495 CLINVAR:488349 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9c38424-4295-49bd-9ac7-e801842a7e1f CLINVAR:488349 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0148e50a-d928-49be-a580-b2ea82341793 CLINVAR:9655 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b40a1251-7636-4f69-bb85-b6a2ce0e99de CLINVAR:9655 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07506621-ce78-4839-927c-4dcabaee94e5 CLINVAR:805947 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c944961-3167-4e5c-9c6b-26930cd896ae CLINVAR:805947 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17585c39-0208-4bc5-8751-a89446a1a340 CLINVAR:252192 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59da6ca8-7fc1-4ed1-9c06-ec7cfaf12a45 CLINVAR:252192 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 219091f2-a6b2-4c2c-b74d-724374e00361 CAID:CA404093661 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5748aeb-d0ce-4eee-bb3c-92bc0749f27d CAID:CA404093661 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99bf6f88-cfad-4ea9-91ae-f4ad27ccbea3 CLINVAR:1785078 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c748412f-cfc0-40d1-a45c-24b87ed2b72d CLINVAR:1785078 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65fbe98e-c20e-4f92-8b44-54565f00fcf3 CLINVAR:328052 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 613def5a-a11f-45bc-a1b6-b37ea870068d CLINVAR:328052 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7830e65-fefc-4699-b1ae-9c0e7a4816b8 CAID:CA399791662 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 35aeb65b-225a-4686-a3e0-c04e96b8a3c7 CAID:CA399791662 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0d447d2-c2da-44d8-afd0-555fdf03699e CAID:CA400022022 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ee2b8333-3e83-4d1a-bc33-3f5ad8c2278f CAID:CA400022022 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1436c884-fa7b-49ac-a1f9-05d20ddb0102 CAID:CA658760377 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 179d6eac-af7f-4753-989a-cbe765b50dbb CAID:CA658760377 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2f6349e-fc95-4601-98e0-2aa1c54274ae CLINVAR:2734558 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ec0842e-fe34-4201-8692-4276c95fd138 CLINVAR:2734558 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42842430-92c7-477d-b538-570fc7fc3cf4 CAID:CA2695224143 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 85aff3aa-364b-4741-a40a-9b271b6b779c CAID:CA2695224143 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c2312fa-e9b9-4622-bfc0-8a6f6b508bb1 CAID:CA410677562 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79965090-f97f-40da-8ee3-28e07155c4d6 CAID:CA410677562 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba53139a-c073-447b-96b6-d3368d39cd83 CAID:CA410677579 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91c5b858-202d-4e7a-a468-fd4279e7ff6b CAID:CA410677579 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f6cac22-8a04-4158-be4c-77bf96503c4d CLINVAR:246082 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb39cf95-407e-48d1-b479-83790ee1d1e0 CLINVAR:246082 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21605662-10d6-489d-925c-e9a9b346ad78 CLINVAR:158515 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 245f936d-bf05-4384-b6f2-b24630591a21 CLINVAR:158515 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25cccb9f-c010-4c21-860a-58b0cafb4151 CLINVAR:158514 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9abe93b0-5605-4053-9433-0829ab3a2e2c CLINVAR:158514 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76a2d06b-901b-441a-aa91-e30f0f0ef437 CLINVAR:92677 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4550122-d016-4de9-9281-c1481d8f9c1c CLINVAR:92677 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8051948d-870c-49b8-a678-d575acc57a56 CLINVAR:451052 biolink:genetically_associated_with MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9bafe7b8-9c36-4fbc-b818-b698ae876b00 CLINVAR:451052 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 851ce168-8d60-492c-84c4-92846796e5f8 CLINVAR:235402 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06c350a9-4f34-4d58-b0fc-1c545758466f CLINVAR:235402 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84eb4ada-b432-4ea2-b842-d84f88c63c66 CLINVAR:642798 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a8935a8a-b051-453e-a73a-1c0d7e4a367b CLINVAR:642798 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 697a08db-794f-4176-86a5-74a08685520e CLINVAR:100279 biolink:genetically_associated_with MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e88b83f-9352-4aa2-8013-e11ce77bd5b5 CLINVAR:100279 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df6072f3-9491-4655-9e66-3ef464dec36d CLINVAR:132994 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b28b8815-84f0-4342-82fd-aa22fd055687 CLINVAR:132994 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f7634ac-529c-408e-8058-dd5c7240df00 CAID:CA2580612111 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c30c3217-4fce-4f61-ad79-6e91c0de0a1a CAID:CA2580612111 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 334dcfb4-a602-4005-956c-1834642948c6 CAID:CA386971688 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b0283fd6-8013-4a63-bdc6-b8a0788f72f9 CAID:CA386971688 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03dae140-e581-4c3b-9482-2ace983988a9 CAID:CA386966053 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5a81392-ab53-4ea5-8ff7-cdbf41998fad CAID:CA386966053 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a85173e-14be-43c5-944d-b499a81d0d0e CLINVAR:585930 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f47ed410-99ec-4bd6-9602-8d69dfc622b1 CLINVAR:585930 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e9b966e-288a-4530-8dc7-cbf8ff9e69c0 CLINVAR:3029101 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1951b7b8-e670-4509-90c0-a358cbfa5efa CLINVAR:3029101 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 238cbb57-b7fa-48bc-a339-b00f5767d0d2 CLINVAR:804851 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01f79064-42a4-4b7b-9389-ebdc8d2f1846 CLINVAR:804851 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 017e35c0-4557-442f-8eca-c0254a2e83c6 CAID:CA2695203127 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d345b84-56cb-4bbb-9cc2-5cdad0e0e4b7 CAID:CA2695203127 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93e38a5c-52fe-4f75-883f-3cda9df82cc6 CAID:CA367401109 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb535a75-990e-4215-ad11-5298ffa43ae8 CAID:CA367401109 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fa35b2f-0c90-442a-b51d-ecbbe1043280 CLINVAR:1803547 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c46eefe-f6ca-47ec-80ef-1a870ee86701 CLINVAR:1803547 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8e9c310-71c4-4dde-b8b9-513c39b6125a CLINVAR:36258 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5d04acd-6cfd-474e-b6f0-645d667c967d CLINVAR:36258 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 068f6b1a-5d41-4f3b-a469-722d674fa8f2 CLINVAR:161288 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b398243-b722-4686-b228-143537ba93db CLINVAR:161288 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8db79225-0387-42c8-8779-e295c3ba6f97 CLINVAR:252061 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29b370b8-8105-49e3-b484-924c86fadb32 CLINVAR:252061 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c2ccb88-5086-4ae1-9ffb-460b79fa1197 CLINVAR:440691 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66d6fd56-5570-4088-9220-35b42e0adc06 CLINVAR:440691 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5021165d-abce-4fbf-ba2b-963087b9cb2a CLINVAR:630377 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8265e66d-06b8-477a-abd0-4db1fc72a7ea CLINVAR:630377 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22ad5e55-6e59-44a7-8b6b-9953b9a8a842 CLINVAR:252015 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8bac715b-8e58-4beb-a4d8-edaf7c7254fa CLINVAR:252015 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db9b65ee-3c97-4531-9a0b-ec763a57230c CLINVAR:252172 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed2a63f8-9068-4cca-9f33-fe13e47ef5b5 CLINVAR:252172 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b74dd30c-0b2f-47ac-bd0f-d2afca59360f CLINVAR:922061 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7bb10fbe-f5f5-45d4-ad3d-cc69a2239502 CLINVAR:922061 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7438a262-66af-4536-b58f-3414418df6c2 CLINVAR:406165 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d29f483e-7e17-452d-8f6d-e9076dccb739 CLINVAR:406165 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15e85245-13cb-4928-9a24-2d7c03245b1e CLINVAR:237872 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f151ca0-c7a2-4b0c-8b45-e8682ac79249 CLINVAR:237872 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd5b4c52-d4f0-4d6e-8719-2ac77c1c0576 CLINVAR:183085 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 434f4559-1795-4ec3-ab05-9cd6f869dd81 CLINVAR:183085 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47584ae5-cf24-44ad-b87b-59f5d5f1d132 CLINVAR:251857 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 44f20b45-074b-4e1d-9641-7713aaa8002f CLINVAR:251857 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2696599-51e5-4980-99be-50aaf460f2bd CLINVAR:251858 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b01ab07f-bb83-4a4f-a1bf-72250b19e288 CLINVAR:251858 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 504b868c-87d0-4cc2-b1e1-1ceb2374d932 CLINVAR:251856 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c1bd2e8-4d1b-46be-badd-8eff3c4388ed CLINVAR:251856 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 848b1e40-a671-429f-bc26-49203fb0bc06 CLINVAR:430776 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2803caa-9c64-4b31-bd2d-a56775b78723 CLINVAR:430776 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5674647b-e8ca-429d-8039-f1e0379dfcbc CLINVAR:251749 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c07f521-ca5a-46a2-85aa-e86aa387c217 CLINVAR:251749 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0e63338-7362-458f-95b4-4ac7a77026ec CLINVAR:251748 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9536a52e-aa27-47e5-8ce8-226f431567e2 CLINVAR:251748 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13f51dd3-a40a-46e0-a520-e1892c5ed003 CLINVAR:251750 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a86b8445-04d1-414b-8df5-0ae7bf8187ed CLINVAR:251750 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55b48e9a-282b-4b0d-8d71-093eb85b670c CLINVAR:3620741 biolink:associated_with_increased_likelihood_of MONDO:0011058 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ba67a3f-efc4-4f05-8e7c-6f19c90d4b3e CLINVAR:3620741 biolink:is_sequence_variant_of HGNC:2180 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fbceb0a-6c6a-4564-86a6-4efb5158ac25 CLINVAR:143791 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8abf65af-620d-43dc-bec1-d8feef54d8b2 CLINVAR:143791 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3fe6239-f450-4f0e-a3d7-b82b5d624598 CLINVAR:156592 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79584007-396d-42e6-835e-0afad5e0884d CLINVAR:156592 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96d68fc8-2732-4779-9253-5d0b061269e2 CLINVAR:208653 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43ec70ce-02ba-42f2-b739-412642e0b96b CLINVAR:208653 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96ad7440-b43e-47cc-a9ed-cb0637a2dcda CLINVAR:1648546 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d2b3600-37e8-4a08-9faf-ce3c422d58b6 CLINVAR:1648546 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc3e3351-8511-40e0-91a6-a7893f697ecb CLINVAR:143796 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74f9c896-c474-408a-bbe4-2281b2b1526d CLINVAR:143796 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da802bde-0e28-45ac-a117-b99b5f0ab670 CLINVAR:143493 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5be27d19-904a-41ec-a72e-0abd25790fa0 CLINVAR:143493 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 162b9cb5-5f40-4341-adb5-05c77d32ed5f CLINVAR:2492678 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bbc976c-bbdb-4af6-a99d-740fadc9fe14 CLINVAR:2492678 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be02f897-f9a6-4724-a537-adff907292a7 CLINVAR:1144732 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2c28fc9-fcd8-4cb1-834a-2a833f6d3f3a CLINVAR:1144732 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e68a0788-ff5a-4731-8937-8dded8c491d7 CLINVAR:1911932 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9be82f68-b759-4e6c-8e50-5193916640de CLINVAR:1911932 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27e0994c-1509-4edc-bbb6-09c8e451af2e CLINVAR:212376 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86ca65ad-c306-4c6a-9cd2-3fccbb0ae0a8 CLINVAR:212376 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc439c3e-58d5-4386-9b50-645661547db4 CLINVAR:1164050 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1e0ed9df-3826-49d7-ad21-aa6c1ee492d5 CLINVAR:1164050 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fd78b8a-2baf-43d8-a517-f29025b001e5 CLINVAR:973968 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c940e89-1389-42c6-aa84-cc2dd6b3f850 CLINVAR:973968 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc7efa61-b8de-4126-b6ad-b7fccc62632f CLINVAR:98870 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 086091c0-d6f6-4b13-b168-43b484b99ecf CLINVAR:98870 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e73eebc2-a0ed-4719-b2ec-5366951223ef CLINVAR:98840 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43c3ef89-ead3-48a0-a500-4022e6159d7d CLINVAR:98840 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19def28a-0d2d-45fb-ba1a-536b419204b3 CLINVAR:973967 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e33cb30-dd58-4c7d-a416-adf33b1ce717 CLINVAR:973967 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16a50417-d2ca-4955-b188-d97bca18fea3 CLINVAR:973956 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen adaa182d-206c-43cc-a390-f50a5d77c0be CLINVAR:973956 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c09bed50-4157-4169-8c32-b1207067c459 CLINVAR:973965 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eeaf85de-9bb4-4699-bb35-187fba6187b7 CLINVAR:973965 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66d1ac3d-641f-4bb4-99a7-845df8b8587c CLINVAR:973966 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b32e2d5a-fc86-4732-9e14-5562b6c50879 CLINVAR:973966 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72d4103e-63cc-4bfa-b757-f1bc7c7d72b8 CLINVAR:98904 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 20e1c023-f437-4e6b-820d-30e4511eac4d CLINVAR:98904 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49ba5dd9-22bd-4adb-a29c-dc012da4e2c4 CLINVAR:53031 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71cd3954-1130-40d5-b87d-cdb26e531d74 CLINVAR:53031 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc1f046d-0218-4067-964f-0d58bc7b0a5b CLINVAR:3119 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff08a620-4f98-4b5b-807a-150e7af92d97 CLINVAR:3119 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cea4693-85af-41fd-8c4a-2719183fb9cc CLINVAR:52955 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 771700d9-a101-4b30-b9ce-2b268461ef15 CLINVAR:52955 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 883179e2-d06f-4af0-88a2-4b4423e6a0b8 CLINVAR:3114 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f70d50d2-ce22-4e60-ad56-86e9f53178e3 CLINVAR:3114 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 364d8720-4d6e-4482-9e19-4f0197a80fbc CLINVAR:191476 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1773a77a-ba26-48c5-a872-bc9126c77939 CLINVAR:191476 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80265f89-4294-4617-a8e3-3fda5a051467 CLINVAR:200877 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 637add32-a67e-49eb-9887-433266ec33de CLINVAR:200877 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2396162-2e13-4b1d-80d1-7b2d5d730acc CLINVAR:67059 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40c3fbb5-c6d5-4d16-80c4-50accedf6b0c CLINVAR:67059 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14b98cba-2bd7-41dd-acdf-759e4e1b334f CLINVAR:3128 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04ffcac6-2c48-47f4-99aa-b5be1f060338 CLINVAR:3128 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca98307f-c9df-48b3-bfa3-0f76b2abef19 CLINVAR:53047 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6c1f52ef-cedf-49e2-8a2c-0f60c5390268 CLINVAR:53047 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f30ad4c-0c9b-4f0e-a766-b14de990544a CLINVAR:67130 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc13fe11-1d5a-4533-859e-fe9d04db77b5 CLINVAR:67130 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e460c630-979b-4538-abf7-fc120a994fb7 CLINVAR:219923 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e7f6b43-ed17-4e3c-8442-56ff8ff85016 CLINVAR:219923 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9fb3416-63fb-4746-b40d-f3d6855f25d3 CLINVAR:3140 biolink:causes MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 710289a4-c37e-43ff-9315-c62870ba7687 CLINVAR:3140 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ce68969-5269-451a-ad3d-52e82963d016 CLINVAR:53034 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27795278-08a8-417b-bea0-90a985334e21 CLINVAR:53034 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ee186ff-55d9-499f-b6c3-3440dfb19ed5 CLINVAR:53118 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eac1adcf-4904-4a38-adf5-9e020c6779d0 CLINVAR:53118 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0359640c-a185-4f0b-a0c6-578db681715b CLINVAR:53083 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen acee1642-8f60-429f-aa36-2ce15566c33d CLINVAR:53083 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3be0e8a8-bc55-4153-86d7-88025524303f CLINVAR:2124553 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9298981-8763-4efb-ac87-4a832db97520 CLINVAR:2124553 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf9b4ae1-580b-4ab5-af36-a17216c0095f CLINVAR:67027 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef0b0f1a-a2e5-4400-8956-d24348a6052f CLINVAR:67027 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d1ba45c-0183-402d-842b-73cc016f9033 CLINVAR:871729 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ecc1133-3738-49ce-905c-04c36cb07f83 CLINVAR:871729 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b63ab8e-7b75-49ae-9da1-d83a640cf731 CLINVAR:1950175 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bce1c3da-0e81-443a-96bb-2e6aa875bfb0 CLINVAR:1950175 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87f8baef-8014-440f-b716-67c291b547da CLINVAR:3118 biolink:causes MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 955c903b-0fda-489f-a2aa-45040725a1d9 CLINVAR:3118 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd7b3421-ac81-44ca-97b5-7010a51e5d63 CLINVAR:3135 biolink:causes MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58fcbb10-6020-4938-aeb2-cffb76a7f343 CLINVAR:3135 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd6309ba-8a92-4ba1-945f-7d651a4ca190 CLINVAR:200874 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78ef3624-53d4-4a84-a024-7f9ccf6257c2 CLINVAR:200874 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 628049c6-2ead-48f1-a748-4b4e33a03d35 CLINVAR:3131 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17d7122e-7ad1-49a0-87ba-e0bf7129cf02 CLINVAR:3131 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6f24df6-1fa3-4b32-9be1-57cdbd6924e2 CLINVAR:2683630 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b6d4aed-66cd-476d-af86-f76f20fc1fbf CLINVAR:2683630 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60ce8c23-58d7-480b-940f-f35cecf0e9ee CLINVAR:4026 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 605ed90e-830e-4ddb-9791-e731c4ac7162 CLINVAR:4026 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a65c02b5-53a2-472e-a75e-002282a2beca CLINVAR:1322950 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8a37485-3059-4ca6-b984-f7bd0b932284 CLINVAR:1322950 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaf76f30-6a22-42bc-a657-034b6a9deac4 CLINVAR:1711447 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f17d89d0-a16c-459b-b1fc-58a4074a6e66 CLINVAR:1711447 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 596cd1d6-292a-4157-8275-54e8579e93a3 CLINVAR:3769497 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5cb8e5d5-70d6-4dda-9f2f-94080b5a0da6 CLINVAR:3769497 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bc5b990-d822-4d00-84e3-3ffc1e2dab09 CLINVAR:3241650 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0fbe35bd-1587-4fa4-ba1b-58ecc2cc8140 CLINVAR:3241650 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04554b76-20f6-46d1-b40d-5e96cf2d67a6 CLINVAR:456406 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9904ee3-c184-436b-887b-a94da41a9333 CLINVAR:456406 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c75dd6c-8b64-4c74-a1fb-63148780db11 CLINVAR:863657 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1a181b3-27f4-403a-9ade-a644ef63aabd CLINVAR:863657 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c0aafec-022b-459b-9a61-c9fb38898775 CLINVAR:690463 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 46ffc43b-f214-445c-868b-d297db8e749b CLINVAR:690463 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2af9da98-427d-4523-a57b-03b6a5fee8a7 CLINVAR:1713278 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5553a63c-4d74-4b51-aa73-33f5364d3cd2 CLINVAR:1713278 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fd72424-81a8-4179-8281-3d6f63acf0ec CLINVAR:2765748 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a3a63b6b-9fb8-4852-9509-c467b5126b03 CLINVAR:2765748 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8d25bb9-f4c6-4673-bb9b-c5afb5205d41 CLINVAR:2020494 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 91cc9659-58b3-4fa4-a2fc-64f030a438bd CLINVAR:2020494 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fd8bb0e-b8d9-44d7-96bb-694a8739d584 CLINVAR:265521 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 763f2b47-e30e-429a-a7f1-588ad8b3efac CLINVAR:265521 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1096885c-b5e3-4c31-89f2-5a81f7076c38 CLINVAR:217160 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 146e0318-e37c-4571-ae8e-dc1642cdf721 CLINVAR:217160 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd970ca9-ab33-4b27-a7a8-88b156f6c7c1 CLINVAR:500678 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08d3f517-20bd-4bf4-b790-bddb5f421aa7 CLINVAR:500678 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1dbc8d1-7cd3-4c1c-9684-32f5a19e87b5 CLINVAR:291078 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 35bc389f-de66-4cbe-9d91-b3b9731676db CLINVAR:291078 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 528b6834-8772-435d-90f9-767fbaa2bdda CAID:CA3055620674 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 71cdc3fe-0e69-4ff0-9e18-d3eec1110363 CAID:CA3055620674 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85a97a3b-f817-4b73-bb86-f0aff85f7cc1 CLINVAR:94358 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dbbb734d-f8de-4955-b821-b2ab54af0bbb CLINVAR:94358 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d477ffe3-18f6-435f-9a7e-a555661a4e8d CLINVAR:94331 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen edbdf1ee-e395-4f8c-976e-2af8ee728158 CLINVAR:94331 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d723c4c-b071-40fd-ba61-22d037aa85c3 CLINVAR:94366 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eeda0734-30bd-40d2-a06f-412db735da7a CLINVAR:94366 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5b70e43-c7b7-4755-8bd3-a9d13e169630 CAID:CA347219920 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b840aa22-d762-4a42-9b76-fa0bf43669ba CAID:CA347219920 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47253610-995e-43dd-9e21-68573a30389c CLINVAR:1300184 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 540f07e3-9d87-417a-8e30-3ac1aff3d63a CLINVAR:1300184 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29a07b73-33ea-428b-bf1f-bf2e10a95e71 CLINVAR:288833 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 177a0df1-5196-4d5a-bec4-ce8cec7a23b4 CLINVAR:288833 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb222ee6-bf69-4d44-82c7-daf695d2027e CLINVAR:3776168 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 081ccac1-15d3-421e-8e30-639ac1b26513 CLINVAR:3776168 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3716b8bc-ddc0-4a6c-918c-fd15466b6dd3 CLINVAR:553852 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1bf320ab-d558-4b78-985c-dfe46dedc09b CLINVAR:553852 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7805640-b8a1-4f9d-b9e7-56e9ebbbd0a6 CLINVAR:984123 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1561d2a1-0731-494d-9808-64103ede6aba CLINVAR:984123 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 563a1bea-9384-410f-9619-26692717ed00 CLINVAR:498211 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db4b7fc4-22d0-46c0-a5c1-2825cb61e1a3 CLINVAR:498211 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5b99411-9838-47bf-b0a5-22b6ed6f5208 CLINVAR:496981 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57cdb148-1b25-4268-89df-434222cd9cc4 CLINVAR:496981 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64a89a48-2f26-4fb2-a6e4-067c0d208fa3 CLINVAR:285340 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0c8e4d4-d3be-490a-bd83-79bc6524b4bb CLINVAR:285340 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc39909f-83f5-444a-b874-044b1fd8e0e1 CLINVAR:9554 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc16156f-1142-468d-9468-daa7266ca551 CLINVAR:9554 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfb971e0-c06c-47e8-ad57-c35721b63834 CLINVAR:9607 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93ebb399-be98-40a9-869e-e288482811f6 CLINVAR:9607 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c1eea2f-23e8-4b41-acf5-7edfdaf9edac CLINVAR:127403 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21a02389-b195-42af-a1fa-177289fcea35 CLINVAR:127403 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7d338d4-6d8a-4dbb-940c-e78b6c98d432 CLINVAR:524412 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6823ad3d-3941-4def-b5f8-4c1377729fc7 CLINVAR:524412 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6c0037c-dbfc-4665-9503-c1331b30ba58 CLINVAR:140897 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc9f7b75-253d-478f-9153-2b4a0f8ce4d8 CLINVAR:140897 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5203f9da-a9aa-4bbc-99d8-4a99361a6da2 CLINVAR:127340 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5d1606e-beb4-4aec-bd39-8f772be7d33c CLINVAR:127340 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10e85f99-615d-4cf4-9f75-bea6b0ff78ee CLINVAR:3022 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15c10a22-3924-4fca-a7aa-ddfba2aa0cd9 CLINVAR:3022 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d45fd886-8307-4b77-b8d4-a440a8e95893 CLINVAR:481101 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db4c4bfb-af14-4fcf-8a65-37fcd4c1ad14 CLINVAR:481101 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee8804c3-a002-4ce8-9f5c-6494d579348a CAID:CA382516273 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ea7b355a-b24a-4746-98f8-1e475ed7db73 CAID:CA382516273 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18147408-ac48-406f-a618-1e0a1d658064 CLINVAR:232110 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a37bfdc-72ca-4202-8c14-64d05394652c CLINVAR:232110 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03c7e507-1ceb-431c-b430-210aa242553c CAID:CA2695215276 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c4bf86f-d890-4ffd-a1ed-1ee1f1fc2317 CAID:CA2695215276 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1b46c53-279e-4711-97bc-a4eb1e3e2940 CLINVAR:141325 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cefff372-bf76-4b29-a2fa-d62bf38373a5 CLINVAR:141325 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dadee104-ecdf-4df5-a5c9-8d37829f22ca CAID:CA382539488 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba1d0f52-48f4-4579-aa33-8df859a17d84 CAID:CA382539488 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25fa2102-4d24-414d-bcc5-69f5f12c2750 CLINVAR:1023669 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 27a79b0e-59c8-4832-9c5e-9607d58623f3 CLINVAR:1023669 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9941da3b-8ae9-43fe-8dcb-234ea9296afb CLINVAR:1018946 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3904cab2-a027-4de6-9645-21e81a2418f4 CLINVAR:1018946 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42037977-5bd9-4b39-8001-3d7065be947f CLINVAR:241562 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec236b58-aa26-424e-94d3-7db75cae6d7c CLINVAR:241562 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eaa9625-9033-42a0-ab9f-7fc36e3362ef CLINVAR:3791511 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21c569e8-48d5-4a0f-9db0-f52970d1a41d CLINVAR:3791511 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 004fe84a-76b5-4799-9d01-9eff50ce5955 CLINVAR:3775902 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc20559b-1b9a-4f42-9475-8168c58dc896 CLINVAR:3775902 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe6c68f2-9246-467a-9324-749ee3be110d CLINVAR:3791500 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 55e28dea-6061-4259-b63b-a99d97a6d53e CLINVAR:3791500 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0da65a6-99f1-4e69-9bc9-6853f2102b8e CLINVAR:3791474 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ec0b3d0-6c57-44d3-81cf-a77a88f8dbbc CLINVAR:3791474 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84c816f8-6893-4e41-814e-251d1c3ae279 CLINVAR:3791460 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 121d44e1-3681-400e-8de9-8e4b1e3db033 CLINVAR:3791460 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1eac63d-8afd-4f75-963c-f0b81dcb9d29 CLINVAR:3791461 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad503c41-f088-432d-aca6-908b3e76c937 CLINVAR:3791461 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ebce59a-39d7-45a8-aa4b-a4c1d1767030 CLINVAR:3791517 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb3431d4-6363-4b9b-be3d-8e8af19ec667 CLINVAR:3791517 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fbfcb97-b42c-4d7d-8b41-0ea567452dd4 CLINVAR:3791488 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f47ea309-ba31-4076-a870-22562806ef6e CLINVAR:3791488 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc7925e7-8a0d-4190-a51a-97ddcad2c716 CLINVAR:3791480 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2562fb2e-57a5-47fc-beee-4948b33b98a4 CLINVAR:3791480 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd008594-392b-4432-9ff9-ea129315ef29 CLINVAR:3791469 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c3d3ba1-26a3-48f4-b01d-8c68a6f4d4c0 CLINVAR:3791469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7405fae4-ed28-48cb-9a5f-ef50535d179b CLINVAR:3791478 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb6d43fa-3635-4f1e-a4fe-52916ba7aafd CLINVAR:3791478 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa047314-eecd-49df-a255-e4dba1a3c328 CLINVAR:3791508 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0e20d16-22cd-4cff-984b-de89948744f7 CLINVAR:3791508 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 762946c5-0dcd-4f51-b45b-8ae460c2f881 CLINVAR:3791502 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24435293-25b7-423b-b2a4-95511787bc98 CLINVAR:3791502 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67f09d64-b4c3-4f97-a8dd-819701d17758 CLINVAR:3791498 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 173bbb04-7162-4a5b-ae2d-5d96365e031f CLINVAR:3791498 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8690b54-5a39-422e-a59d-2f50577310c7 CLINVAR:3791485 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 496e8b97-5237-464f-a649-185353612f7c CLINVAR:3791485 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b2fdb1b-5002-4a3e-a120-3d778524e5fb CLINVAR:3791465 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e2add21-2fed-4aef-9076-6121ae17f751 CLINVAR:3791465 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c14e239-dcaa-4e43-afd8-ca4284fe8d37 CLINVAR:3791467 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9027168-ce43-489c-9501-3daa645e2c8f CLINVAR:3791467 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f097f7b-0bff-42c3-94fd-dd6662718f51 CLINVAR:3791515 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5e6b03d-621b-4dd6-95ac-c2e7fe1b4cad CLINVAR:3791515 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18c5e0eb-f27e-435d-919f-5045bb3dec5e CLINVAR:3791479 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8165de5b-e1eb-4372-b41d-fc994ca8ad2b CLINVAR:3791479 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43f65369-18d5-4010-b076-7ade30538d75 CLINVAR:3791466 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8d19ce5-7bd0-41df-b90e-ab6fb774ea64 CLINVAR:3791466 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17bdbd66-fe49-4568-bf6e-ecd3c5a85d5a CLINVAR:3791504 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 365c7ba3-ca94-4c03-a7cd-005e705c0496 CLINVAR:3791504 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59e21a12-1745-4cf5-a508-79a4b60a5515 CLINVAR:3791507 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b1413d9-c8f4-4f50-88cf-8beb5b6cc84a CLINVAR:3791507 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9baa74b-7288-437a-9017-b8f4304fdfd3 CLINVAR:3791492 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 373bbe2f-54b6-4cee-b8f9-faecf7de649d CLINVAR:3791492 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2660a4c8-6668-4ef4-a478-fc52c8e5220d CLINVAR:3791468 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf7a60b9-ae32-4128-b809-cacf717c6660 CLINVAR:3791468 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c1af311-7145-4fab-aa31-512dab39c0ec CLINVAR:3791493 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9f91cb2-4c9b-4ff7-9a7e-f8e60ea50d6a CLINVAR:3791493 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2f46d58-5bb4-4fa2-b213-6c54b2c3ee85 CLINVAR:3791487 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 533b99ff-5d2a-4db2-9772-a296df44f4a1 CLINVAR:3791487 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fc14755-f3c4-4c9b-a843-0835f5abc689 CLINVAR:3791505 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4827043a-8eb0-400a-8651-7de6c6f94d83 CLINVAR:3791505 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 141a47ea-0796-4920-ad6f-e2294fca6c6d CLINVAR:3791491 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d31b7046-88db-4d92-b17c-5285d336b7f5 CLINVAR:3791491 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 261bcfde-3fdd-4559-86ab-9fac56f57ae7 CLINVAR:3791512 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e43afa4-a9e0-4fe5-918e-1a624dcd0b13 CLINVAR:3791512 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 323afb9f-b8c5-4182-92f8-9e1e7366cdd2 CLINVAR:3791506 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6ae1d1b-76e3-419b-9920-a7fe9d61870b CLINVAR:3791506 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1453dcd7-05de-4aa6-8b1a-2995aca967f1 CLINVAR:3791490 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1af16ec-defc-4ae2-a85b-d246eb5a2c19 CLINVAR:3791490 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8a3c2f1-cdc7-470b-b8a9-0187024c71a3 CLINVAR:3791471 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cce979cc-253a-4581-9afe-6ad1da584492 CLINVAR:3791471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20939591-2216-46f1-9d1b-bcb080908269 CLINVAR:1070970 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1f7df66-1874-4be9-9123-79881e769ada CLINVAR:1070970 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31e70a0c-9f75-4b43-866a-399d26eb976b CLINVAR:837219 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3435a68c-49aa-4ab8-bba8-a2ba7838642a CLINVAR:837219 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d52821f0-8372-44db-bc54-a1b25d975b09 CLINVAR:30007 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 013344e3-17d9-475f-950f-4f9f8a7b262e CLINVAR:30007 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 158a33ae-bd8f-4b82-b4d9-3f996b9dc1a4 CLINVAR:1177637 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6bdcf075-bd65-4c25-b4d8-10772ef77e16 CLINVAR:1177637 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fd5cfd8-cc79-4810-a8e3-63696978e50a CLINVAR:4056142 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c1050f64-5ec4-4360-a203-35932308b715 CLINVAR:4056142 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27d76233-8772-43fc-b7f4-c2fa51e6b954 CLINVAR:1323100 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e293750d-58d7-41e2-a2c1-807e955b6052 CLINVAR:1323100 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90677d20-4da8-4c5e-850b-785075eb5366 CLINVAR:550421 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b5035d1-1c68-4b56-8f3b-7ed7725408b2 CLINVAR:550421 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1e1c2b1-3ff0-4cc4-9c8b-06c7e569f534 CAID:CA16020727 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a5b2d3b-c608-46ae-a931-2821acd3a650 CAID:CA16020727 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d42d32ab-1489-4ff3-b7e4-844f8e4a4e9e CLINVAR:102617 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e40af594-0e45-4eb9-aa2c-3cf0464bee55 CLINVAR:102617 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00231723-aee7-49fc-b1c8-436099ea7991 CLINVAR:1514901 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83375079-612e-44a1-b9bb-8f57231d3641 CLINVAR:1514901 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5477b71f-8ceb-44e5-8ee6-21e86aae7277 CLINVAR:971992 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 457e8544-6c4a-43ee-9f61-e5f865717f0c CLINVAR:971992 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67f2dced-a221-4dbb-bab7-9a4e7cfcb425 CLINVAR:663720 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aa75bcae-ca40-46be-b45a-9a0568c6ad0c CLINVAR:663720 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a513a544-41f9-416e-a5ac-fab2e6726504 CLINVAR:929238 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d2d0aedb-07ac-4365-90b8-549ea5f74403 CLINVAR:929238 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85ad775d-43bf-49aa-b457-68855a7d04b8 CLINVAR:1053808 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33fad42f-c136-47d4-8853-d330de61e40d CLINVAR:1053808 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb6aa776-231b-43cf-9fb5-4fa3129a389a CAID:CA645372298 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d96b095-cf6e-4b9d-8816-f7897e1d5257 CAID:CA645372298 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e6bcec5-ffb8-4ebb-a5c1-35d49da94b4a CLINVAR:376616 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9b7fd00b-eff1-41bd-bed8-e403bb25f0f6 CLINVAR:376616 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98ddeb73-0d68-4ce6-84e6-5a132667a946 CLINVAR:1408583 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aa3efb6f-e0cc-4213-afc3-95f4bf8741f1 CLINVAR:1408583 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bd357c5-a24c-4670-8e31-03e686e5d859 CLINVAR:177879 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15ed7f8e-cfc2-4c42-9a4f-fe9050c60f8a CLINVAR:177879 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceeaef34-8fc4-4342-a7f3-3ba39861b331 CLINVAR:987878 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a0c491e-d7ac-4f48-9a2d-f2f8dd4d540b CLINVAR:987878 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa338550-9f33-4179-a642-eb24c6f1ca2e CLINVAR:142828 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22ccc3e9-660c-4161-a2d2-337dcdc5e3c6 CLINVAR:142828 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e31c198d-7bf1-4138-96a0-5691d14b7802 CLINVAR:237938 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen da2ee563-7b5a-401a-a689-fa6ac574c74a CLINVAR:237938 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 489349d8-bbb6-4ef6-949e-ff60bcfcc5e6 CLINVAR:142536 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98f2e5e3-762e-4961-a5eb-7eb83792f9c6 CLINVAR:142536 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acffd125-b9fc-41ec-9e1a-04d9413318d5 CLINVAR:655054 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c66c672-bbe4-4621-b8b7-d404ea668e90 CLINVAR:655054 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21b4c4fd-69f9-4c0f-858d-ee15f8d7a698 CLINVAR:662690 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8569d3b-5774-460c-aabd-8d7a1d87526a CLINVAR:662690 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b31a0da1-08f3-4dce-9b47-a1f22b5df6ba CLINVAR:142206 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e445f354-5fc1-47df-a8ed-1ccd7471a331 CLINVAR:142206 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4aea70f3-ab8c-45f3-96fa-3f363f1cc8ed CLINVAR:406597 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 62338957-939f-462c-a0dd-12e2ed29ad15 CLINVAR:406597 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da36637f-1a26-46d3-ad03-f5e8897ae347 CLINVAR:233627 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82d15868-b042-4fee-a21a-d44d01eb0fe7 CLINVAR:233627 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 692474d2-950b-48e7-8129-0b21a37c0266 CLINVAR:246416 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0acb439e-03b6-4478-8e9e-c07940fdb98d CLINVAR:246416 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c165ba76-5edd-4d49-8b3b-304551551cb9 CLINVAR:823452 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e93e624e-6678-4951-89cb-e8ab26d495d4 CLINVAR:823452 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8370ce8d-5086-412e-8f64-86521508ab3e CLINVAR:376632 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6d888e9-3963-4cd8-908f-d162b3a0ed5e CLINVAR:376632 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8576a08d-25d3-4327-9a0c-2fd8c7e6086e CLINVAR:528270 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47b1e14b-77b7-42ea-a7ef-30bb694ccac1 CLINVAR:528270 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54c9e112-7923-4a16-8066-ad5267ed774b CLINVAR:12376 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9160695f-4a03-4e54-a949-1c230c250a2d CLINVAR:12376 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f375496c-92a3-40e6-a1a7-37a5e5a516b5 CLINVAR:184863 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8955530a-c3b6-487f-ade4-35c216ab7768 CLINVAR:184863 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acf84600-8283-451c-8704-b1a19ef1bec8 CLINVAR:1053218 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6db8658-60a2-40b9-8981-6e6312d6d608 CLINVAR:1053218 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e13df158-ed43-4b16-a62e-b001013c812b CLINVAR:855487 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b36aa7f5-1e8b-4afd-a398-29ab9c60c0a0 CLINVAR:855487 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 490436a4-cf49-4a73-a07d-8b5b47c22bb2 CLINVAR:482229 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3f13b65-07ff-4ffe-8bdd-f18be7237291 CLINVAR:482229 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b416871-704c-48d0-9572-96c9e85e1038 CAID:CA9870021 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e5f00f3e-821a-410e-85f0-04242dc73a39 CAID:CA9870021 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84d0c49e-6f3a-4e10-8f19-06238c4f719c CLINVAR:803609 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed0f40f1-a73b-4d98-ae87-1bef0a6938e4 CLINVAR:803609 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8471501a-de6a-4b28-b6cc-88a233db15ed CAID:CA409107643 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d4ba012-6042-45d0-9144-c9c5aaca9499 CAID:CA409107643 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e5cf8e3-5315-4843-9c85-5406f4d9ba3e CAID:CA367358007 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 833ad21a-6873-4f94-b9e3-ec508a85d2f1 CAID:CA367358007 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fdfa1fb-e218-4025-ab87-281c4cd67454 CLINVAR:3893306 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab387f65-6ec2-4287-9e3f-1f7d5844014f CLINVAR:3893306 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46de2054-015f-494c-a5d7-17e88d681adf CAID:CA367399229 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 99562bff-e931-41a9-af87-248b1666b2f9 CAID:CA367399229 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a927f9c-4e23-4df6-b6a4-cc219d24c2b8 CLINVAR:235097 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d98bc118-72cf-4ecf-9eca-102f15cb3e4b CLINVAR:235097 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad30da24-35f3-4846-aa71-3678c63192e5 CLINVAR:573130 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c1638aac-9580-459e-8e57-4dba144d42e8 CLINVAR:573130 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e104d51-34d5-4ba3-b9f1-7d3a83f1c1c1 CLINVAR:1343440 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c93c4867-1681-401e-942c-8043fd4ea825 CLINVAR:1343440 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37f5671b-4c4d-4116-92d3-a9b4fd729af6 CLINVAR:2138538 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c28573b-9db1-4ffa-af39-43908a787de1 CLINVAR:2138538 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da360e75-0034-4fc4-a65f-896657aee996 CLINVAR:2430153 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62654c9a-bb3f-4ba2-b1a6-db2df49baf69 CLINVAR:2430153 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d502c48-9273-44a4-9e2b-2247e5eb82d2 CLINVAR:1802337 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66150328-66d9-4d73-a40f-47fb136d1fd0 CLINVAR:1802337 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35186fd4-8a3f-4e2e-b352-834a598c4c0d CLINVAR:866825 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3134a36e-4d1d-472c-8d0e-7d4b9cab9ae8 CLINVAR:866825 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cc2954a-30bf-4a9f-846a-d5bd2a63040b CLINVAR:143743 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c446cdea-a3a1-4ebc-94db-d479c1eff618 CLINVAR:143743 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4e6adff-b264-4f40-99d4-9a0c9417d18e CAID:CA2695195451 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4cc357d-4996-4659-975c-ec4a829cfb4f CAID:CA2695195451 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82424b49-95fc-44e9-ba45-7c6b324cb606 CLINVAR:3028600 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 261c9c72-9d03-4ab8-a58c-e56ad3f5a6d4 CLINVAR:3028600 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ed2a4b2-b67c-4ef6-9fc5-272128524558 CLINVAR:98727 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce97114e-e1fd-4edd-b2f8-358f485408d3 CLINVAR:98727 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adc614d5-456b-4f51-9e71-6b315e9a0530 CLINVAR:98728 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e22585ea-adcd-48c1-b83a-344e551ba6b3 CLINVAR:98728 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c41f275c-5e39-4048-b5c9-3da8900f16f3 CLINVAR:98729 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cafa485e-a8d3-41bc-97dd-f0d72d18958f CLINVAR:98729 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4daa632-1258-4e15-982e-1a7ac964cebf CAID:CA412739890 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 978dd956-aad1-4083-8592-871a7f48b6bb CAID:CA412739890 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26c04fd0-117f-403d-9816-98040f953824 CAID:CA412745793 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 13bd616a-ddd6-4f63-ba24-263927a592b7 CAID:CA412745793 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 870b400a-ebe5-4b88-80e8-9cde611956a6 CLINVAR:812418 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e298ff8d-b6c4-42ea-a2b7-d3ab70cf122b CLINVAR:812418 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f8c322b-3797-4281-9d66-ac6a356f0917 CAID:CA2573131851 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aad2f96e-1fdb-4952-9704-42f4fbda39da CAID:CA2573131851 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a587c87f-9ef6-4b94-8308-31a49ad57450 CLINVAR:1707409 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd1ffa2f-522d-4665-8753-e7b7c3007f0d CLINVAR:1707409 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a47116d-6032-4169-bc7f-1d6476aede43 CLINVAR:975133 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 704ebca2-e09c-4f57-ad5d-58db61c37d90 CLINVAR:975133 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbba3b5d-6c0c-42ef-8d88-eb8a9a8ecba0 CLINVAR:98742 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cdea3a07-6389-4580-ad5c-25b00e16eb0e CLINVAR:98742 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5580aaa9-86be-4958-aa67-82bf6e397306 CLINVAR:98746 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7232287f-8772-4e3b-becc-c0f487f40c9e CLINVAR:98746 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cab8de51-2e77-4e43-b2df-93733cd58480 CLINVAR:1213922 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99be5bc4-0743-4ac1-b61e-984fba4297f4 CLINVAR:1213922 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 694b24e1-73f4-4c7d-a590-b0ba524cf5fe CAID:CA16020883 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8ce5c79-68a0-448a-a883-4c1508c105c8 CAID:CA16020883 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b62f61c0-4078-4651-a56c-4ece4971dbf3 CLINVAR:2417518 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e92d0b6-cf78-4eae-8411-56a032af1480 CLINVAR:2417518 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33e0a6b8-a31b-4fa0-b3b3-78270f05d451 CLINVAR:1297114 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b5365ac-ec5e-45c1-831b-77fa2149dd54 CLINVAR:1297114 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf2fae7c-0bc9-473a-8a40-de330bd8760b CLINVAR:866755 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a91f2d06-cc7d-458b-9065-320cffd69bd2 CLINVAR:866755 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b74fb9c6-c237-45af-bcb4-7e76e67eb534 CLINVAR:1065689 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce7b4911-d7ae-4304-9ff4-1d5f382c935b CLINVAR:1065689 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cf13307-ac68-4c7c-827c-22194f8ef2f1 CLINVAR:1676154 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c1da8516-f314-44ae-87cb-8f60d5083f80 CLINVAR:1676154 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 956cb35d-03ce-41a4-ac87-eeac16bbeb87 CAID:CA412745623 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8eb04ccf-741d-4c94-a4d4-26acfceeb4bf CAID:CA412745623 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db78b627-6176-472a-895d-3bd8e335a363 CLINVAR:1275779 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca4747a0-ac25-4875-b53b-a16e62ae4192 CLINVAR:1275779 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baf78700-1fa4-41ed-9240-f69dacb26c0e CAID:CA412731265 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1177f8bf-4d77-48e2-be6c-b9555b6fd3e8 CAID:CA412731265 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dad139e-90ea-4d62-9c75-632bf9b60793 CLINVAR:2099208 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4f7a954-9839-43fd-8ed4-37ddaf9f8187 CLINVAR:2099208 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0ef06b1-2fdb-4ead-9543-456792462f15 CLINVAR:975136 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39736de4-9382-45dd-bc89-7dd26a944b9e CLINVAR:975136 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03a38539-cd83-4e88-9bc5-fec01106d183 CAID:CA2588340080 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c2f7004f-d2ad-4b67-8a53-38e360c47e21 CAID:CA2588340080 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fd61ae9-4238-48a5-829e-a75461a05183 CLINVAR:30006 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a075335b-7827-47b5-b53e-dff98fc0aafa CLINVAR:30006 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92debd82-3416-4d6a-89e6-7f9186d33f50 CLINVAR:690063 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af19a37d-7602-4ea2-b4d6-358c8cd645be CLINVAR:690063 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22ecadee-599c-4c3a-b218-eed3a8320f5d CLINVAR:9619 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c550fd5a-faa5-49bd-a4d4-d2b85efabd6b CLINVAR:9619 biolink:is_sequence_variant_of HGNC:7478 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 875a58b1-80ee-4abd-93bd-aab77c0e7a27 CLINVAR:692374 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 746db989-7275-489d-b821-9404812f3bf6 CLINVAR:692374 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ab1709a-85c2-47cc-9434-2f6a8cbee597 CLINVAR:155893 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e62db445-94a2-42ba-b5de-fb912af66863 CLINVAR:155893 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d2f1519-a0a3-4ca9-be79-3b8f719cfb97 CLINVAR:155892 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f8f1c26-df4f-4574-8631-5d136d4bf437 CLINVAR:155892 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c35704a4-f600-41ce-8df2-015b723424ee CLINVAR:1328561 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3792b6c-e5a6-4aa9-b070-b259e08d378f CLINVAR:1328561 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2473823a-42ae-4234-9ebe-d3713ed3e15b CLINVAR:9589 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98a08855-6d98-4f39-86a3-47d4d67ed0b1 CLINVAR:9589 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e808ba3-e8a7-4d7a-87b4-f98c8962a579 CAID:CA415077248 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e96a0ae-d3ad-437c-ae6b-970d663b2b20 CAID:CA415077248 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ed8a281-da49-4d00-9983-8bd8446863f6 CLINVAR:11701 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 32283ade-7b09-4d1c-bd9f-c0d97707d20e CLINVAR:11701 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36ed39ce-51e4-4d1e-bcaa-1a2d4218f3bd CLINVAR:2504565 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4fdff50a-11cb-406c-913c-fb10307072f8 CLINVAR:2504565 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abe5e723-590c-4133-ab13-295e6f72b957 CAID:CA415080308 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cae70701-5685-4ece-9525-ed184c1abf2f CAID:CA415080308 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85d44c53-99b6-4691-9547-64f94eb123ac CAID:CA415086207 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f906f2b6-a12c-49de-8906-9b0fb65b64c3 CAID:CA415086207 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaa0f7b7-42b2-41cb-a1cf-b11549ab6979 CAID:CA645530575 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c1e2492-59f3-4d68-9580-cd38ef163275 CAID:CA645530575 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b470648b-5c98-4aa9-b2ab-2e973bf51475 CLINVAR:284800 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f5f0d9f-f546-40c9-86f6-d8876a93e783 CLINVAR:284800 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b5bdb0e-848c-4d83-976a-680c1a42aa3e CLINVAR:94352 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df288782-8a8a-45f0-9c80-b6e0184033e6 CLINVAR:94352 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8abccde-12cc-4e0a-be1a-c8034e93f9f3 CLINVAR:6679 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a7b4bcd6-47a4-4fc5-a394-b21dfa452155 CLINVAR:6679 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c523199-1369-4eaf-ac1f-dc2a27a2b8d4 CAID:CA2586969497 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82659168-9d29-424c-9a79-789cb7676cb9 CAID:CA2586969497 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec8ac472-d80a-4f30-97fa-42b124938a19 CLINVAR:217227 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c94a5db5-2c3b-46f4-80aa-d4de42102872 CLINVAR:217227 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0effade-fc23-4bfc-882e-0cf938d2eaba CLINVAR:1433815 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94ea3e6b-6aed-4f79-ac6a-f69a8f59047f CLINVAR:1433815 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb1b2ca1-ec41-4722-b48a-6ebee1496fc5 CLINVAR:194805 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7607b18c-bd52-4b4e-93c8-cb6efd44d528 CLINVAR:194805 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55a092e7-aa40-4a01-91fc-2022553e9279 CLINVAR:284469 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c34890e4-c7e5-4d4f-aeec-ce5fa46ddbd6 CLINVAR:284469 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89c0d51a-6417-4464-8a48-90b26fa7c255 CLINVAR:984127 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8da26e02-3f64-4f60-959a-3788680fe8da CLINVAR:984127 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9721313e-3124-4106-beb7-43cda10ebaaf CLINVAR:94263 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84b4063b-ca98-425e-badc-60e3caf0d8f4 CLINVAR:94263 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6790b9a-1245-4cf8-83e5-2d80f590123c CLINVAR:550946 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d6c05fd-b884-452d-953b-4ae302a7ccd7 CLINVAR:550946 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2df5961-db27-4268-acb2-f2b27dcae47e CLINVAR:374503 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d2c3b1a-6e3c-41ec-b8ba-56454d806199 CLINVAR:374503 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 050bd1a4-5ae2-436f-b066-237090a4d9e2 CLINVAR:496872 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df4d410a-9ec4-42ff-8d2a-f36b6b114dfa CLINVAR:496872 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 631971b6-3cdc-40d5-9aba-9f8221e03252 CLINVAR:94271 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 73c9377d-98a8-4931-a1ce-ec3d2b6915f6 CLINVAR:94271 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c937973-a44d-4a6a-8797-2bb165f01255 CLINVAR:2674961 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3a1b729-55f6-4126-90e0-8456b30b6983 CLINVAR:2674961 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d85cea76-08fd-49f8-8d2f-648cd8710a89 CAID:CA347220794 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f15ad82-497a-4268-b022-8864861eefc7 CAID:CA347220794 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b542881-17b9-4fde-bd7a-f7e8f34df2a8 CLINVAR:429885 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6f09ff4-24a5-4955-9804-0797bf5d7e20 CLINVAR:429885 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e69b127-51c4-4ae9-b5d8-3c9cc2194e3d CLINVAR:217225 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 955f3830-5a0f-4402-83c4-628fd90e955b CLINVAR:217225 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58cd5a08-c40d-4017-b56f-30719b9951f9 CLINVAR:265108 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c2a10ac8-3d0b-44d4-9779-dd12a98652eb CLINVAR:265108 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a3a6e66-d84e-44bb-a615-85ffa3e9091b CLINVAR:498353 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce2c17ee-de69-4e34-b526-d3fa278641a7 CLINVAR:498353 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c15ea02-c19a-4706-8c77-311654dce6d3 CLINVAR:94337 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69b11302-40fc-465b-8a2e-98b8ca6395a2 CLINVAR:94337 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dd47c4e-6dee-49b5-9a3d-8790fc6e1b77 CLINVAR:284804 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84c58794-3262-4f54-abea-1e0ac49777fb CLINVAR:284804 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e094f480-01ae-41bd-a0b3-c3f45e365af5 CLINVAR:94274 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b1abb71-e68c-4a83-aad5-20efe6595bba CLINVAR:94274 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd0c6cab-ae66-475d-bfda-6ef598ad883e CLINVAR:6682 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ab3a457-e910-413b-9f30-93c8a5368e80 CLINVAR:6682 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c4f7d0d-226d-4d9c-be8b-001007c9dd07 CLINVAR:6681 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89e055f7-7577-449c-91fb-a5b94bcbcc3b CLINVAR:6681 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35218258-74b3-438e-b4cd-f518fa673008 CLINVAR:837557 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4409eb90-a311-46cc-b845-f978dd789c0d CLINVAR:837557 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9df8adc7-dcad-431e-a87d-71bb7d82be9d CLINVAR:6675 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5563392f-ee52-494b-a075-b8f2db9eb42a CLINVAR:6675 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1c2ea3d-24ed-4650-bc40-489e42994ef6 CLINVAR:18443 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 689273f4-135e-452b-89f4-9c4fee7a721f CLINVAR:18443 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dc10054-6c92-437a-af87-6378fcef209e CLINVAR:94340 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6e4c26d-f82a-4dd1-b51e-b326f1f93b88 CLINVAR:94340 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24756ce7-4d15-490c-b6f3-6c475892e1d1 CLINVAR:6668 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3bfc04c-76eb-4e4a-aced-ce9ebab3d9a3 CLINVAR:6668 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfeaef2f-b301-4613-9c5f-c8d608f776f8 CLINVAR:286151 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7fa9003c-7c6e-40e2-ba4d-82c266b64f1e CLINVAR:286151 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 685e659b-84b1-45a8-b6b3-f98061bc2fb0 CLINVAR:502095 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da8ba98c-1277-4cfd-8bd8-d0f89e1f5afb CLINVAR:502095 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59028d5c-7d5b-42b0-b7e2-a2cc7b6f7b2f CLINVAR:2018639 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f1a840c-5494-4edc-a248-8683d44b03d5 CLINVAR:2018639 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3a6273b-70d7-422b-9b43-da007c274044 CLINVAR:283474 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f96f88c0-4763-4dc5-a4a8-79298cf84a2c CLINVAR:283474 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7825088-cef7-4373-8ce4-89c08683e925 CLINVAR:203587 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aeb297c5-9e50-4993-9a37-6908e0fc7ba3 CLINVAR:203587 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e448265-9d2f-4ad9-a22a-7bd1749565f8 CLINVAR:429246 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e36cd8d-25db-4466-926f-2515a13a88a5 CLINVAR:429246 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f0c0afd-f779-438c-87b6-43d46b3abca5 CLINVAR:102571 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93ce561a-ad7c-40db-b128-5804e89508a5 CLINVAR:102571 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10abfb62-ebdb-4ffa-88b3-ed715ecfeb76 CLINVAR:102798 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6d7229c-8029-4e34-9d4f-b1b8e1d76e87 CLINVAR:102798 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0472e82a-46bb-4b56-8bd4-3f551b432b07 CLINVAR:102547 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc33acf9-85e3-46dd-8437-4c54e23117d5 CLINVAR:102547 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd690604-3567-434b-9acf-e5460c1ccba4 CLINVAR:462651 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51223186-db20-40de-9116-1e4d4134139f CLINVAR:462651 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80225d5a-5395-4e2f-b2a9-1581563e467e CLINVAR:52411 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 344bfe1c-d003-45af-bf54-1108101c901e CLINVAR:52411 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 284fd0e3-8234-4fb3-83db-d3c016ffc230 CLINVAR:52563 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 061028f3-ba8e-4533-93d3-8a82dd34f1ea CLINVAR:52563 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86485db8-8037-4071-98ee-ae32dd47018d CLINVAR:373826 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3909f908-9ef6-4ab7-8503-146515db8e4f CLINVAR:373826 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 809a6218-33f7-45e9-a078-e788c0f9cc4f CLINVAR:232047 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 91e26c2e-92d1-416d-9220-b1c204c63a50 CLINVAR:232047 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9eb5e372-ea99-468d-b4d3-8eae3edcd5b8 CLINVAR:96949 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8999ab68-3d02-47d9-b652-47dd92275b54 CLINVAR:96949 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a266e241-4061-4eea-987e-368cf6145391 CLINVAR:52491 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99968a97-4138-416c-ad68-8a8858d84673 CLINVAR:52491 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67276f8c-cdae-4f09-a316-ef76d8966903 CLINVAR:479367 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 034afbf2-0ec7-4ba5-9661-ee9ea0830621 CLINVAR:479367 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9102ce95-13e6-42c4-9b75-afe477e98b27 CLINVAR:216263 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9baa84e3-5905-4f17-85b2-b8b95a1903b2 CLINVAR:216263 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63f6a07e-3120-4f47-b112-4960b6b8e056 CLINVAR:55482 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 30ab9f07-2c1f-4f91-a4ad-5b03e5578e3c CLINVAR:55482 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f8ea865-1d75-43d8-aad1-267b8b5d6fce CLINVAR:55631 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 83e3d366-e050-4a81-9a48-dda0265852bc CLINVAR:55631 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b32624c-98b1-4e33-a040-4acdcba95c06 CLINVAR:421439 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6de6b49e-f1df-4865-a130-0e7e19dc5740 CLINVAR:421439 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c171fe7f-7df8-4fb9-b51a-d06b4f5dbf92 CLINVAR:55399 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 778d3c8c-5b97-4da4-bc17-bba2f5640d1c CLINVAR:55399 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e62f1147-d343-4124-9923-ecc2a39fb660 CLINVAR:531399 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 46078c56-3cbb-4934-ae07-f30eb8fcb7c2 CLINVAR:531399 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c1b16b6-158d-4040-b264-65865f6ea7b6 CLINVAR:37650 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 351fc790-e469-4399-a910-a985fb30769a CLINVAR:37650 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cc20a20-76f7-48c6-b90d-466df4e7cd17 CLINVAR:55530 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0e1255b-6939-4919-ac4f-7645a09b2a98 CLINVAR:55530 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1334ca9d-91c1-40d9-a207-f1b00f7b4218 CLINVAR:440481 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0c6b21e-5885-4fc7-8ca2-30ba756d9f66 CLINVAR:440481 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dce4a4da-378e-46ad-96e0-550cb77171c2 CLINVAR:868490 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0ebbbb8-c2f1-40cc-9173-697205242993 CLINVAR:868490 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 335301a6-6379-44a1-9795-747cd04a9226 CLINVAR:629251 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c609fe00-4a17-4715-aa14-db5b26cddaeb CLINVAR:629251 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2afa3ee6-fee7-42f5-b592-570709e2a995 CLINVAR:531444 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 31c2179e-f045-4c85-8d17-da4b6f941f54 CLINVAR:531444 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 000788f1-2000-4972-9e0e-b46867c6f385 CLINVAR:52056 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af113160-d800-4a34-a056-faccd40a6e9a CLINVAR:52056 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82cdd0dd-3500-445c-942d-546940373236 CLINVAR:252889 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2430f955-493e-448e-8c98-a883223f4de6 CLINVAR:252889 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df39d033-ea5d-47b5-a8a7-50bf2d8ac4da CLINVAR:368117 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 16f14393-ccca-499f-9d0a-ed3787c5af18 CLINVAR:368117 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d14ab22-314e-4179-86c4-dcaf450442e1 CLINVAR:1029498 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64d29e38-d881-4a30-9768-a1c61a9eec13 CLINVAR:1029498 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c245e5e-2de4-4e12-9998-23d47da22e7f CLINVAR:811219 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab580a8e-cb4b-434d-a3d2-db2172af16a9 CLINVAR:811219 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48544fe5-77ec-462d-9f81-4cd0ec012f61 CLINVAR:1512896 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7273d868-d611-437b-aed0-bafc09e8ba7e CLINVAR:1512896 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aca540b-d36e-49be-9c7f-15c6f2f6a877 CLINVAR:626973 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c10d9953-b3fe-4932-8745-af0d90bff543 CLINVAR:626973 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31140e22-065d-4123-8d9b-37d078a8482c CAID:CA414914381 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a6b12fb-a6d2-459d-a817-704d9443443b CAID:CA414914381 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93391c62-a812-4c08-99ed-7088c9ff768b CAID:CA414435714 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f4cc8fa0-7969-4a77-af8b-e09f94ee4a1c CAID:CA414435714 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62dfcae6-89af-4b42-9e66-c92066b7a0b5 CLINVAR:55397 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03f22258-e396-423a-85c6-4b61e5f21a30 CLINVAR:55397 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c00207b-07ed-4220-a7f7-6db3b7e91c2f CLINVAR:940200 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 70d0de71-e2a5-4fee-8f9b-b204ca667961 CLINVAR:940200 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5707b6c-df44-43e1-b7c1-466c39d8491a CLINVAR:251515 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6182f27d-1cf1-475a-96bb-a15f9c914f0a CLINVAR:251515 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dc80fe3-3c7b-45dc-8254-3af531dd174f CLINVAR:226380 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f3aee20-c7ad-4db8-92d2-8f8d7c05f698 CLINVAR:226380 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a7244e7-5161-43de-920d-83b6d26ea3cd CLINVAR:226379 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 566a4243-e299-44a2-a421-2328212a29a0 CLINVAR:226379 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a841430-a348-47e4-932e-0f8d6519ac41 CLINVAR:252107 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 545b464a-5d5a-4826-96b4-4503cb0b3bf1 CLINVAR:252107 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb810588-7d7e-46f8-9f21-59444b1ce812 CLINVAR:14209 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 263e9f36-0560-43aa-a00b-993cc70ea310 CLINVAR:14209 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c899a05d-83fd-4810-bc87-5f7b1f79c13d CLINVAR:926510 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc7aea14-d335-4fc2-8e6b-888113f6b2cc CLINVAR:926510 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08f20ad4-bd4c-45ed-82b9-2e792b953d25 CLINVAR:975142 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21336cae-7480-48cd-855d-4ac53fc8f49b CLINVAR:975142 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f97f558c-a5ee-4490-b069-f2f3590cc3cb CLINVAR:865892 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3982c22c-6a60-4b66-bfb2-e2a8f8aedebc CLINVAR:865892 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c4c5141-96c2-4cba-a955-4dea09969a1d CLINVAR:866844 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff0c916e-762a-4b77-9ac3-1858f2d117d5 CLINVAR:866844 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3170d39-cf2f-41ee-9c87-c6285bfdeff6 CLINVAR:1802355 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a619c005-1eac-4782-b91c-ac01249c3d4d CLINVAR:1802355 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ba82be6-54b7-43f5-91dc-8aed50961368 CAID:CA2677125568 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e69a2c3-4084-42a3-8ab6-9facaddb0a21 CAID:CA2677125568 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ae22700-fa8f-4b1c-a19b-c9617047eb20 CLINVAR:251112 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4233c9a-c76a-44ca-a476-311246fe1178 CLINVAR:251112 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f97809d3-b0c9-498a-9db7-200d4f7bb520 CLINVAR:251113 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 63820c27-b166-486e-b5a5-96ea90b34113 CLINVAR:251113 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30feeabc-6ffd-4caa-ad8b-2ac6657ea05b CLINVAR:250958 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9731097-c745-44d8-8491-0ce4c8eed196 CLINVAR:250958 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad2df91c-d249-4b89-8ef2-17c4d8d5b113 CLINVAR:3351476 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a8e4747-4afe-4a50-a3e6-ca6eec6bcda8 CLINVAR:3351476 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a99037e-23f4-474c-b415-d302b729680c CLINVAR:2574633 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 830e61ad-5731-4d02-ad98-10c83cd070a2 CLINVAR:2574633 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f16be64-bf4d-4607-ba5c-5467fa310be7 CLINVAR:1350522 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ecdcc62-0f48-4adb-b7cc-ab82faa76e0f CLINVAR:1350522 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9ff3321-1d93-44c3-9546-2d4bdc647c7c CLINVAR:447426 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e305a377-0ad3-4f04-81cc-edee1804e31f CLINVAR:447426 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b031db3b-885a-439c-947c-0ab9179cc45c CLINVAR:2582713 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1c33a87-e06a-4239-a0eb-73117cc72069 CLINVAR:2582713 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a719fc0b-affa-4f4f-bf6c-09f0f700b225 CLINVAR:4077388 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3ab9593-aa06-4933-90c0-2d670606a840 CLINVAR:4077388 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cfe776e-ce09-4d74-b657-1892172d7dd6 CLINVAR:4077385 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94b98c24-166e-4811-bca6-1679899d6b3e CLINVAR:4077385 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7518b3f9-8601-43b6-8c62-ce0cd047dd6a CLINVAR:4077384 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26ce1f89-1d70-4e85-af2d-6852c25b4204 CLINVAR:4077384 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6afe5c5-872d-46fa-81d7-8da61dc6c16e CLINVAR:4077386 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57f8b1ea-2241-4539-be5c-1cbb9219ed16 CLINVAR:4077386 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c98770d-a284-40e6-bb6c-cf0fa8d753a0 CLINVAR:4077387 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b300efce-bd9e-48fd-b297-674e171061b4 CLINVAR:4077387 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d4fc139-6ffc-4b63-8a04-455a814d8de1 CLINVAR:4077381 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee5bcb93-35d1-4e84-8221-960cf2f2770b CLINVAR:4077381 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6ed5256-eca2-4658-a94e-d684f1af665d CLINVAR:4077382 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 163e797c-8f47-4381-b9bf-76a5dfbc1dfb CLINVAR:4077382 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bacb49ab-1f69-465f-9034-40c9f016755a CLINVAR:4077383 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7943be62-6ca3-4d01-ba60-c385f19f5d7b CLINVAR:4077383 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31781367-0e7e-4c23-af37-0ff7d12d87cd CLINVAR:4157 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2056f904-2cfb-4c33-a613-a0c5f289ff18 CLINVAR:4157 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d489a7e2-6b17-443d-b8b2-036fbb853da8 CLINVAR:1677212 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8cd026c0-bfdf-4f2f-90c8-40af1d53e4ce CLINVAR:1677212 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a1a657b-2244-4790-a1cd-bc22602f45db CAID:CA2695202181 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f52d202e-3311-41b3-b961-a8f2f13da943 CAID:CA2695202181 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8630a4c5-3a71-45d6-9640-dd5ad431ba4e CAID:CA2695232668 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d9d2a19-8955-4a4b-8bb0-20ac23e93398 CAID:CA2695232668 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51ac5e0e-f1eb-4e2d-b295-142ae7c9c6ab CLINVAR:867143 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee90686f-e6df-4ed9-814d-fc7e49a6274b CLINVAR:867143 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31a11d06-c1d9-4236-8ac6-9e1872cd048e CLINVAR:1297120 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78321ef2-7ef8-4f57-ba41-188a6eba0d4c CLINVAR:1297120 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 306ed2fb-dd35-45ee-9142-336dcd1f3838 CLINVAR:183262 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27c3a7dd-3810-4b0e-a6d0-fb98f9c60d7e CLINVAR:183262 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f60d6a9a-166d-4075-9a2a-cf2671b68b0a CLINVAR:865888 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4a8ed8f6-19f6-4cf1-a779-c8856609b388 CLINVAR:865888 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b68e6d6-51b5-472a-a13d-2c063a109e74 CLINVAR:620583 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 323e6b85-8bef-4574-af09-c5ccb3594812 CLINVAR:620583 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8ad2f59-04e6-4f6a-ab6c-384679536bbc CLINVAR:1802335 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6cd6161-1bda-4979-8725-8d570a47db02 CLINVAR:1802335 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83a456e6-3ec3-4d1a-8695-efff0d552b9b CAID:CA412730484 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e78b2f40-d0fc-42b0-b95c-ec5131581947 CAID:CA412730484 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f5b9777-4212-4c63-b5c1-4f32bf362c38 CLINVAR:865886 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 750cd482-7cae-4f46-88ee-4ac2f22f790b CLINVAR:865886 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c61d8346-72a2-44e8-a4bd-9c42d41ffab8 CLINVAR:867074 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ab6cc49-0868-4eb6-9bb6-008ff18936ae CLINVAR:867074 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28cc7b93-9320-4ef7-943f-97f9658e961f CLINVAR:866274 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb7c6061-f23c-4edb-b448-d3c25468aefd CLINVAR:866274 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed6f8355-cd09-4d10-8020-da1a99e89bbd CLINVAR:555213 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ddce6c0-1919-4a0b-b73e-2a7da70fc19b CLINVAR:555213 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75d11911-cfd3-44f5-a443-24af462a7cd7 CLINVAR:1300185 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a76a3877-d5d1-45d5-a826-9c8aa0b5c628 CLINVAR:1300185 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 664a64a7-682b-4ee3-9af8-851ae7274b5e CLINVAR:217157 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd84c29b-ea14-442b-910e-555db03463cb CLINVAR:217157 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76257057-6e63-45d1-9c8e-069980e8d9ee CLINVAR:194354 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a1b0adc-4781-4324-82a9-aadfd9cef155 CLINVAR:194354 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7058b39-31b2-4f59-9b41-536b86123983 CLINVAR:813970 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f58c952-f09e-424b-96fb-61c3ba63e192 CLINVAR:813970 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58d74ed9-1a0d-4616-aa6f-eab74e1e9916 CLINVAR:935255 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dda1ed1c-0242-487a-816e-ec49d2787c56 CLINVAR:935255 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58709aa2-1b17-4508-af92-332c07c320fe CAID:CA2573052014 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e678d75d-8e6c-417a-b0eb-4e908d35f389 CAID:CA2573052014 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a801787c-bcd1-4d29-9f9f-6eed280c8f80 CLINVAR:289245 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e3192fa0-73e2-46fd-abe7-26fa89d086e4 CLINVAR:289245 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 169ff28b-9524-4fe2-a165-4ba92f9e2de0 CLINVAR:288116 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5815df12-4aa8-4fed-a6b0-d152b604bf03 CLINVAR:288116 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4deb404-2a49-4a02-9c54-a22441937d91 CLINVAR:858180 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7ec465f-06cf-42e1-9cbd-5fa93f19db92 CLINVAR:858180 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4212e8a6-d81f-41a8-9db0-17b5c0d894f1 CLINVAR:281012 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b5fe36a3-cc85-4506-a6be-7e3e040441d2 CLINVAR:281012 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 229c972e-99a7-4d92-829d-250c35334e39 CAID:CA347216867 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 100a4e79-c3be-4f90-b1a7-28757285bb86 CAID:CA347216867 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f31c4878-1293-47a6-a6cf-8e84bccc2500 CLINVAR:1802365 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5cb6a30a-6a6a-437a-b125-e86ec6bff4e9 CLINVAR:1802365 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c6d95aa-5e67-4150-8286-433cd97fc7e3 CLINVAR:9908 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ebb736f0-dcca-4467-8e34-d53fe317f261 CLINVAR:9908 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf34f8a9-a172-432f-9d3d-017ae2c3edbe CLINVAR:866097 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3875c9d-ed57-455d-a4ca-37247c795422 CLINVAR:866097 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ca02928-1471-4fd2-959e-6dd423e26ea1 CLINVAR:1455429 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da7c5397-0af3-4e32-babe-85a4a1d4b922 CLINVAR:1455429 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6578c222-9dc7-4a7f-a2ac-ba7d8a8faaf8 CLINVAR:866316 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fed27b49-98eb-40a8-a408-5169ffd0b043 CLINVAR:866316 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04157816-4487-48af-b77a-7e47dc9ef204 CAID:CA2588340081 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 399305e4-095a-4ac1-8d51-cc654a71d311 CAID:CA2588340081 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93c01b0f-9419-4994-9c4c-8d36ca41ec75 CLINVAR:865798 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2db3ffeb-1558-4935-9a73-c842e4cc22dd CLINVAR:865798 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da39c506-88c5-4544-a489-305b85d9dda8 CLINVAR:1802328 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9a97b39-5120-4c45-bbae-8ff98ac55c65 CLINVAR:1802328 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7863db08-367c-43ae-aeb7-d86e6a84bd4c CLINVAR:1802369 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d120b6c5-ff07-4af0-b069-39f6675436a0 CLINVAR:1802369 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6781886b-ae29-4647-89c6-b680396bffbc CAID:CA2581463496 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e9556b2-95e4-4b78-842f-9cec674a876d CAID:CA2581463496 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36210a36-08dc-43dd-9dc8-dec2aa29d9ee CLINVAR:2138533 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c6984f11-61df-4925-bd13-5aac33581e1a CLINVAR:2138533 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 549f7906-ac56-416f-bf3e-dc793cb7d280 CLINVAR:812411 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 719a944d-c0ef-48e9-8c2b-28e0b082bb41 CLINVAR:812411 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1836f723-cb38-439e-81d8-36f33fe51f6c CAID:CA2695202259 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c47a7dd-cc02-4df9-a55a-6e5b4e407d06 CAID:CA2695202259 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c27a05a6-429b-4311-8517-4831142e98aa CLINVAR:98771 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c67b995-1506-4dad-9e44-8288f1ae5e08 CLINVAR:98771 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d399d4c6-231a-451c-8f06-bda542ffa83b CLINVAR:636110 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04e73a87-5e8a-4a21-acc2-797e1d669e0d CLINVAR:636110 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 031286f4-3bee-4dc2-8543-5351fa5dab12 CAID:CA412729749 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ddb42897-d1c3-49e4-a6d5-bff5bd4ee47d CAID:CA412729749 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5eccf1f6-3683-46e6-a0fe-b272963f142c CLINVAR:2430223 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a94c8853-5d9e-4ac0-a9a8-cff4e26c7801 CLINVAR:2430223 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb91e50c-3e22-4799-b58d-94bdfad6f4b1 CLINVAR:2430151 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98626275-fbcc-4ff7-bf53-3113be0a69e0 CLINVAR:2430151 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a0700b7-05ff-4403-bc48-be2a517d6912 CLINVAR:9917 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d266cf2d-605e-40f8-9340-92534899a915 CLINVAR:9917 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c40cbc19-eb3e-4503-9785-6a9a6e1e6e11 CAID:CA2588340082 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 186516ec-8b30-4a03-ae83-00ef01b241f0 CAID:CA2588340082 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77b7069b-0bb3-4926-82d1-479ab9a1a321 CLINVAR:624397 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99bf31a7-4e07-431b-891a-c5b92ff01662 CLINVAR:624397 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8080598-285d-4881-9d42-56952833edc7 CLINVAR:3249360 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 42fcb5b0-3054-4633-bd79-220d59947e61 CLINVAR:3249360 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73218610-6837-468c-8cd0-8d3802cd247d CLINVAR:9912 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d8ec0ca-3b00-4f51-bdc2-5ae2eee9b85d CLINVAR:9912 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a311b101-c8bf-40d8-ba2d-413960cf047c CLINVAR:811889 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67783f4a-f328-48df-8e77-05be469d3128 CLINVAR:811889 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 437cfd6e-834a-4dd0-bebe-57e5983083d3 CAID:CA412745199 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3552e675-e3f2-46df-a978-23299e7cbf16 CAID:CA412745199 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83a36118-ab53-45a1-8f13-2e8ca812effa CLINVAR:98782 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb6675bf-0653-4751-bf97-05f293f0ad34 CLINVAR:98782 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42eaa9e0-66c1-4c2d-a77a-f370f7f6e690 CAID:CA2695232559 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e788b81e-24a3-48dc-a5c7-e38f98a0954e CAID:CA2695232559 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47cc50fb-b243-4148-8aca-391ce10a8295 CAID:CA2695202180 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc025bbc-f5cd-4f8a-86ad-dc9dd44f810e CAID:CA2695202180 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 978afe8e-0ab7-428a-8de5-2b5ba4165c20 CLINVAR:1685804 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4eac71f-9915-408c-9c5c-b52bbc3f0cc4 CLINVAR:1685804 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20b5db49-1eb2-45ec-ae53-a5661a4f5334 CLINVAR:812409 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d556765d-9054-4848-8ab4-dd447aac3a14 CLINVAR:812409 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba99bb85-e8dc-445a-8129-8108f9f98010 CLINVAR:1802373 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7b02d6a-ef3e-4d5d-8c1d-9969a48447e3 CLINVAR:1802373 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cdeb50e-d6f8-4cfb-9364-291a726a5431 CAID:CA412729246 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dbaac6a3-74d0-4b11-84a1-cfd4df5d29f7 CAID:CA412729246 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbd6ae26-c0b7-4be5-96c8-f9a0bde7bcea CLINVAR:1012646 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ceb0a20e-2ec0-4085-bfec-0a2047914ea0 CLINVAR:1012646 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f063650-c933-4a13-904d-0c6f79b652b0 CLINVAR:9911 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9206c16-2283-4b9e-9f89-fb343a285244 CLINVAR:9911 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7a2c6f9-0ec3-453a-80c9-f0155d3c4dcc CLINVAR:866381 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b8f11f9-1d38-4f89-89dc-e3a1f7ecf44a CLINVAR:866381 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1cc3ae2-4fdb-4fbc-a966-e58f43e6364e CAID:CA412745347 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9de86496-97fa-4f5e-a3ac-9258b6bd7d71 CAID:CA412745347 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27e5d06f-f8e1-4eea-a4ed-1034a6ba206f CLINVAR:98779 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43308de1-3c50-483b-a522-93a7a142b750 CLINVAR:98779 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81196209-51de-40b7-b86a-000b7bc9ddc4 CLINVAR:98780 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b57e3cc-707e-4cf2-8c17-fa9963682b4d CLINVAR:98780 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27377f5a-782a-4faa-b17e-51123d24f6de CLINVAR:803964 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9db1abe9-fcb9-4554-895a-1a3538abde71 CLINVAR:803964 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6cebe5e-6cbf-4325-9c73-567c61be8df3 CLINVAR:1284488 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d6929529-f00e-473c-9711-11ed47e45cdd CLINVAR:1284488 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73dbace0-0f19-492d-9a27-db68fd639d52 CLINVAR:1802283 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4afd8708-9f78-45a4-9589-9c735b7cd5d0 CLINVAR:1802283 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af213f67-859b-4073-be48-7fa2f70b560f CLINVAR:2138526 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 954ae1fd-5fb1-4dc7-93e9-fed107f17e35 CLINVAR:2138526 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51e6a481-4b39-4719-ba9c-368b36fc889a CLINVAR:2099207 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f81f6f2-a35a-4300-a061-aef01c197d09 CLINVAR:2099207 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c68adba-aec3-4dc7-b9c6-f1920c770652 CAID:CA2588340092 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1fff3238-4857-47e7-a701-61c2a9505a5b CAID:CA2588340092 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f90b6e6b-4c0a-4ca3-99fb-81247dba7fc5 CLINVAR:2787059 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e949bbbe-b1a1-42ee-be7b-aa0191604f7d CLINVAR:2787059 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen feb9b617-86d8-4377-93c3-d8c755a7d5ac CLINVAR:98787 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81550aeb-cefb-4500-b121-2074aff3569f CLINVAR:98787 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b38bea98-6f13-4f87-b0db-ac3d425535fe CLINVAR:975129 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2989cc4c-cb4b-4285-8741-39050451491f CLINVAR:975129 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e87a4056-d35e-4ddd-a2fc-0babfd7a1678 CLINVAR:866642 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ddfbd8d7-0f2f-4330-87df-2e71deddd097 CLINVAR:866642 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4472e7d7-4247-4e19-a96f-0d0be2c5ed53 CAID:CA2695233285 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 593cd75f-b7c2-4d1e-b2a4-5d9dbd277e1d CAID:CA2695233285 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08baed1a-320e-4bc3-ae45-4719199d2889 CLINVAR:98795 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ea69abc2-e9bb-4c24-8af7-8caabdeee6af CLINVAR:98795 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f419cb9c-6c91-46b0-afef-50939449e06f CLINVAR:236482 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3879c081-3e21-436c-813f-6918acd186db CLINVAR:236482 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fa5512a-be42-451f-b987-fe8a6ceedaed CLINVAR:987407 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cdb3f44a-e2c3-4b6b-9926-d460a8738590 CLINVAR:987407 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef448752-d876-402d-901b-eae64e9b7871 CAID:CA412742555 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ec12bb0-c046-4348-8ddf-a71cbc726b63 CAID:CA412742555 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 511913a8-d770-46a4-a1fd-05c52bbbf219 CLINVAR:2138542 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e020a9bc-034a-47ed-94ac-aa37402532e7 CLINVAR:2138542 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 992636ce-0c98-47c2-a562-45251500fee9 CAID:CA412741475 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3fb18a19-88b4-401e-a6e4-befdddab62e8 CAID:CA412741475 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b77b7052-9ffc-45fe-adee-8674d05b84e9 CLINVAR:98812 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b09172f-e57b-4010-a31d-cdac4b4a38e4 CLINVAR:98812 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b620cd19-f023-487b-bcab-e45455344ceb CLINVAR:98816 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ccf91d8-a89c-4f43-8b5b-8d89c224a5e5 CLINVAR:98816 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96864b8a-f9ee-4f7b-b8e5-88b3d8f9f09b CLINVAR:1297121 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ba0baba-5d21-46be-9a05-61524709ee2a CLINVAR:1297121 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4abd98a9-2724-4550-a69e-e2bff5551be5 CAID:CA412743099 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0601abc1-f73c-45e0-8700-dafbd84306c2 CAID:CA412743099 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30f1a4b2-3179-4467-89d9-0491a048331d CAID:CA412737308 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4336436a-714a-41d6-82a4-415d9c906f8e CAID:CA412737308 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a725c79-e703-4dda-9e51-facb134156e6 CLINVAR:98753 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4263ebb6-086d-4ce5-98b2-12de62e5b25e CLINVAR:98753 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e0ce993-fa5a-4f0c-a2f2-8ad9465dc99e CAID:CA412731500 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a259dcb9-989a-4cb0-98eb-0d2afae5f5fa CAID:CA412731500 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08e43a0a-bd84-4638-b532-5f21473d4c23 CAID:CA412731451 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d6fca6d9-f945-428f-a003-8c2ff5d696aa CAID:CA412731451 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e02e1d61-d23e-4ff6-9dc8-80546f3ac8f6 CAID:CA412731233 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f26c1c2e-604d-444a-88bc-a2f4a9ed9244 CAID:CA412731233 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06ad7a66-6238-451c-86e9-264049f0a20a CLINVAR:866408 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8f3a5721-e1f6-4177-99b1-ea441b0caa90 CLINVAR:866408 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 329d7767-d507-46ad-9806-d2b2a37aef0b CAID:CA2695202182 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 99de16eb-54ef-49df-be7e-c4220ed8be81 CAID:CA2695202182 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31b44dc1-ef9c-483d-9958-9a58d3a7329b CAID:CA2695202183 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e336c0a2-3daf-49ce-84b2-ae9a55bc74fb CAID:CA2695202183 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5541e065-14ca-4359-9706-36b331efe405 CLINVAR:989392 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9406e93-8ceb-447f-9b12-50f8e240d88c CLINVAR:989392 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10045b04-c6e5-4c45-8532-5fe1e0bd59e7 CLINVAR:866191 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 94578e7c-07a4-4c86-bfd5-e5ff0fec420c CLINVAR:866191 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 746f8cae-d08b-4c0e-9f15-b0ae17566f60 CLINVAR:865990 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00b876bd-1888-4c7a-9dda-4dd4b948fafc CLINVAR:865990 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab06b615-7337-4396-a04c-15e29ca8963c CLINVAR:2737195 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13dc6739-7aca-49d0-8246-1a60bb765b00 CLINVAR:2737195 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 604ad282-63e4-4dc6-8ab3-0311673b419f CAID:CA2695232631 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 976afa80-b482-4827-a711-b167f68ca11b CAID:CA2695232631 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cadb93be-ea3c-40a3-8200-d3e6c235ce62 CLINVAR:3598278 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57b6ee9d-0653-4106-a355-bce6dd52422b CLINVAR:3598278 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ad5826d-677c-4c7f-ae50-de10cdcb36c4 CLINVAR:593841 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 904c72fa-37fd-4133-9c5b-9ebd4537f1e2 CLINVAR:593841 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9690308-1059-4119-80af-c5b1489d4a1d CLINVAR:812420 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bdbb3852-aa9a-4e73-b284-73643e0c45e1 CLINVAR:812420 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22195325-09a3-466d-81df-8c55c6ecfb32 CLINVAR:9916 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e72052e5-26dd-4dca-bd38-d443da2f340f CLINVAR:9916 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5174cb5c-b760-446d-839c-ce866f53af45 CLINVAR:3249728 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e599a7d-6576-4339-88f7-00a77a6b4831 CLINVAR:3249728 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54763e88-25db-4480-b13e-d1e2bfe15655 CLINVAR:1802334 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 52206651-ea2f-42fd-bde7-3206cad97eef CLINVAR:1802334 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14664d14-7522-4109-84da-5a0849a4ee16 CLINVAR:866638 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7db25958-1da3-4d22-8795-ab6b556110c6 CLINVAR:866638 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a551687-21d3-4087-ac27-7b4b0fd43b71 CLINVAR:2118600 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 112db847-67ba-4677-a7f9-97b13dc50e62 CLINVAR:2118600 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb41f97d-559c-4a6b-b6b9-28fcfe6ee7a1 CAID:CA412741589 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb7a3f8d-eac6-4c6c-97e9-ffc6e461226a CAID:CA412741589 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d71744b0-46fc-4598-b67d-947b21072afa CLINVAR:252130 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af5050a7-4f83-4b49-b846-571307f9e61a CLINVAR:252130 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b14e4b99-6a72-43b3-b409-dee38f79fa85 CLINVAR:252129 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 743a4dbd-c22f-467c-b91f-a66cdde33ed9 CLINVAR:252129 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95ce94d7-2309-441a-9ee6-ca489b4b2283 CLINVAR:628891 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f725d9c2-8ac7-4e2e-8bf2-c5ba38a99772 CLINVAR:628891 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e4ca12c-9182-4852-a030-78697770570f CLINVAR:1008168 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02118bbe-9cb8-4ed1-8211-e5fb767b5c1d CLINVAR:1008168 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68292dff-936e-4403-abaa-167083b63b04 CLINVAR:375827 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f695e1c8-4181-4c26-8437-1fac3624a60c CLINVAR:375827 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08cfbf4b-c0c6-466f-b85d-a3169995e001 CLINVAR:810849 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1cfd13c7-8d97-4105-b029-f36e432caef3 CLINVAR:810849 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b3b95b3-6d6a-4e6e-b69b-f012a3af7b5f CLINVAR:441225 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7269e18d-41e1-4d91-a998-281191f59683 CLINVAR:441225 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8685ded-8bbd-420f-8f4f-f8244339d2b5 CLINVAR:251762 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b2166b0-87e3-433f-90cc-4df48f128d37 CLINVAR:251762 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82fc1eb7-5a9f-4906-a779-53c6ab01f8c1 CLINVAR:575372 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen abad620c-1506-4d42-adad-881b54087ba4 CLINVAR:575372 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc76efe8-f9d7-4712-8c2e-caa5da52334b CLINVAR:252035 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen de0c2604-bf2a-48a7-b20e-c720e438b9a2 CLINVAR:252035 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad01a7ed-d130-4036-941a-93a5791457cb CLINVAR:251725 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 794466cf-6525-48b0-a115-d91118b94b12 CLINVAR:251725 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a88cfa4e-27e2-41e0-9255-bb28cdf45314 CLINVAR:923326 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 127ae329-bbb5-4f7c-9ad9-4dfd14f06422 CLINVAR:923326 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b938978-361b-48cb-850c-2c6feb09f0e6 CLINVAR:925475 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3764174-44dc-45f2-bb3c-d670a0c65f3e CLINVAR:925475 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3fbe323-ffa8-4772-a9af-e3210a28a40a CLINVAR:251047 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd94f89a-c24b-4aa0-894a-7e0b52e7b83d CLINVAR:251047 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2084c640-48b8-4b65-8ddc-702910043034 CLINVAR:252111 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8063ba9-0654-4ccb-97c4-b913bdd0d50d CLINVAR:252111 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91475f60-9f1a-4d09-a583-3b2250b3233c CLINVAR:252225 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9daef04c-8495-4c54-8fad-d46c664441e4 CLINVAR:252225 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4578d7e9-4cfe-458f-9df6-782520b92242 CLINVAR:183116 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cce30262-204a-465d-9578-23af313ac7cb CLINVAR:183116 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1872d882-3914-492c-be02-8e5e537745ff CAID:CA355946316 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ee4ece41-c916-49e8-8b5a-29a0769a96da CAID:CA355946316 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e0e12af-f87c-4798-a763-d3605eb1288a CLINVAR:554590 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a486bb58-a7c9-40c0-996f-11bd62fce6dc CLINVAR:554590 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcabb764-22d4-49f2-a8a5-215bf8f2295b CLINVAR:1683230 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e3f24b9-9166-469f-b79a-a96ad2f9a0b5 CLINVAR:1683230 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1361f37d-935e-4543-a778-ca5799c1671f CAID:CA355961295 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0059d8d4-9228-4f4e-a6ba-303b87bd8bf9 CAID:CA355961295 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ebfc283-dca7-4f23-8926-a2df875828c4 CLINVAR:638076 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40346283-90f0-439b-9f6f-d87391df935b CLINVAR:638076 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 797ec8fe-dffe-4e9e-8f23-c9ae5c253dce CLINVAR:284864 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f115b6e2-76f9-4520-9173-6ed069d5d7f4 CLINVAR:284864 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39f69266-5c30-4cd2-ae0e-783c3a4b7a9c CLINVAR:657307 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77c2085e-af07-441f-b16c-fa9a20b55b27 CLINVAR:657307 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dd73c19-d461-4121-9ca1-06300741a153 CLINVAR:1322965 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 614ca24a-e23a-46e5-82c2-9be231023be8 CLINVAR:1322965 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62514423-3c63-4d48-884c-0c55532df8b8 CAID:CA401370634 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5416ee48-3e44-4713-9fa1-6e9d94482137 CAID:CA401370634 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f687e16c-a601-44c7-82d1-1c3d39aaa255 CLINVAR:2675756 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen efc019a6-3860-4d79-8730-7a332ab66914 CLINVAR:2675756 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 468126a9-aa61-4f4d-a6da-5521e9f8708a CLINVAR:552776 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9231ae1d-a6f9-442e-863c-b8ba2c45774a CLINVAR:552776 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5103af5b-7b48-481e-88e0-9c05b8c4954e CLINVAR:555277 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e447e049-cc96-48bd-8007-ea01c157eb03 CLINVAR:555277 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c4431cd-b79e-4c5e-a3fc-6e3431214ad3 CLINVAR:843318 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b0c67ef4-9f63-43dc-9c0a-ef4a0dbf4a11 CLINVAR:843318 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfe91a34-2e27-4f69-ac62-698c6ab20c60 CLINVAR:597382 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78fe17a7-6814-4d65-99c7-c1088ffb14e4 CLINVAR:597382 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1919162a-9744-45de-9e88-1a38938eec06 CLINVAR:98983 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26cbca1b-7219-4d55-bcd3-c2a3e6fd8db9 CLINVAR:98983 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ddb7baa-11dc-40e6-8b65-d444ff7b85ef CAID:CA412370587 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 88cb2778-14e5-4070-a079-707fd2264c76 CAID:CA412370587 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82b7b939-3db4-425d-9ee9-b8b0aeee9dfd CAID:CA412370595 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99afd825-1bb6-4610-9573-6a15dfe7a3ae CAID:CA412370595 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c75fee0-20ad-4e19-96cd-70cb7bcd48da CAID:CA412370010 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c7989966-ea10-44dc-8ebf-e5494298a99a CAID:CA412370010 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48543e36-5a61-4cef-8cf3-18ae2b0f0d16 CLINVAR:1511265 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 38be7aff-db98-4c7c-97d4-8a91a1de89ac CLINVAR:1511265 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5aad4e4-7349-4e33-8564-d2d1aae019b3 CAID:CA412370011 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 713abfb1-6cd1-4c2e-9c71-7fa5d2c4f261 CAID:CA412370011 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbdd81fe-19e0-4391-a042-1b2ede02070f CAID:CA412370012 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 19fdb032-78ab-4f0c-abd0-ee20c2b32d74 CAID:CA412370012 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2339e4e7-4be9-4b86-8aa4-5815cc5872f5 CAID:CA412370008 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 44d0c5db-7dbc-46a8-9af8-1afbb24bd2bd CAID:CA412370008 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99d688d1-c6eb-4b95-bf2d-050e258ef82b CLINVAR:9893 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc670d89-ca6b-481b-8ca2-a1f23e91a6cd CLINVAR:9893 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4706461c-147c-4fcb-8c07-29302f7fd729 CLINVAR:9896 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27363590-b7ca-4008-8967-5bab32a3e251 CLINVAR:9896 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e15d331-5894-46b9-8c26-6f477cb7df07 CAID:CA405687674 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f9d8569-dd08-4d3f-bcc5-f46d5efca8c4 CAID:CA405687674 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d2a19e5-4801-4efa-9b40-866e2b0c9e94 CLINVAR:1705621 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4bdab8c0-6d7e-4d82-abfb-43277492e7f8 CLINVAR:1705621 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e688b360-818e-47e6-ab0e-2144ebba93c3 CLINVAR:986927 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6afa6dae-a097-404d-bd12-811b5e352e26 CLINVAR:986927 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bc7a3c7-a7b7-4c74-aa43-b94be0a9495c CLINVAR:224998 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5a46405-c83c-4807-9bba-b4656949ae61 CLINVAR:224998 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8f1bcd0-ab50-483a-bb3f-eda569f050b4 CLINVAR:18284 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 041fc043-3809-4999-8b70-43db82647581 CLINVAR:18284 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a8c4112-74a4-4688-92ec-33b9216ec6d3 CLINVAR:1409309 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c383b2a0-f433-4f4b-975e-8fb32f595bcd CLINVAR:1409309 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68a0c6ca-6873-43dd-82bc-24933710cda4 CLINVAR:1411575 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d304976a-2325-4137-9d1a-ffab2d509041 CLINVAR:1411575 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3684dfdc-bddb-4247-a443-7bd34977502f CLINVAR:836280 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 35d16688-0fca-48db-83d5-08c106724cbc CLINVAR:836280 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b7736ef-f7e2-4aac-9486-37943ab820fb CAID:CA343777356 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc2ebe37-a6e1-453f-9f37-05a93e44ca7b CAID:CA343777356 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83bf3d0f-af75-431a-84e0-3c6ffbf030f4 CLINVAR:644952 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2261a77d-ca4f-483a-8cf9-a564e3c08fa1 CLINVAR:644952 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9a112df-1b4d-4529-b141-f3f5a12a4cb2 CLINVAR:98960 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75c3859b-9cf3-4ad1-bc14-410807cf008b CLINVAR:98960 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11f87911-2f7f-4919-b9a6-8b5e1f7d4e21 CLINVAR:98959 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b24c79b2-4a97-433b-89d1-da421d0a8a11 CLINVAR:98959 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b7432e1-93ee-4eb2-b260-3838ef3aba8f CAID:CA412371856 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3defc4f9-5ec9-459d-8e6a-30172d352510 CAID:CA412371856 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe6ad80e-e02a-44e6-907f-ab7b5383eeec CAID:CA412371854 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e8b6685d-c774-4ca5-819a-046e93172f64 CAID:CA412371854 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acc1109b-f827-4d07-a451-0bea9d60913f CAID:CA412371862 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e43f5bc-9d94-41c9-890e-c14cf278fc86 CAID:CA412371862 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b18bc921-4be9-41fa-aa70-bf7e4b500e90 CLINVAR:9892 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17079530-842e-4f05-9624-bb1dd4c2441a CLINVAR:9892 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83355da9-711c-4c13-8815-2fe2ebdae46f CLINVAR:861026 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b579a961-1c74-4875-aecb-8a721fb0fc57 CLINVAR:861026 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b65f3cb-3079-416a-9df9-9bf8a62f16cf CAID:CA412376879 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 912e76f9-6179-4cde-a8ae-4ff1cedffaaa CAID:CA412376879 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1957d3fd-fbad-44da-9418-7c56eba7aae7 CLINVAR:207109 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d3e59b17-f84c-443f-87ac-f7286cdf3d8e CLINVAR:207109 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4d51ecc-76f9-4d61-96dd-3bd3bfa98033 CLINVAR:2820766 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d424729-fe41-43b5-a2f6-e4c5f4ca8cb2 CLINVAR:2820766 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c20751e-4e65-40bb-8183-7b8837f31f5d CAID:CA412376875 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc6c1140-2134-4849-849a-726327935716 CAID:CA412376875 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca96e405-5612-4826-a5fe-a5ab28856767 CAID:CA412376878 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a4992c3-8581-490d-898f-be167a2d2c6d CAID:CA412376878 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fffda34a-fdfa-42c0-8b44-19b74b2681bc CAID:CA412376876 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af3544b3-1bf0-41cc-9d7d-357922b3eec0 CAID:CA412376876 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f96c349d-adc1-40cb-ba7f-c0b3cd70677b CAID:CA412376877 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b95a3f7-453e-4543-a36b-4c5552c2caf3 CAID:CA412376877 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df365e14-58f4-4f1f-a865-5915d4734c71 CLINVAR:2785684 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68cee06c-f02b-4741-83c1-9dc0502a5cf5 CLINVAR:2785684 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b768d83c-ac64-4ac4-b728-faca1a4b15d9 CAID:CA412379033 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 022f481c-539f-45dc-b016-7b056ec02fa5 CAID:CA412379033 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa198308-9086-4d59-bebf-830cc5a68c3e CAID:CA412379043 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9eab6894-7d7a-43d0-a692-7b3ab39e5a68 CAID:CA412379043 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e0d92fc-188a-42dd-b68f-8c0d4204fe1e CAID:CA412379054 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33e34da0-a059-4926-a3a3-334d34be1fb4 CAID:CA412379054 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa1f5357-8418-472b-a01a-4fec32d220c6 CLINVAR:98986 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0ac57f8-7cdf-4343-be5c-a001ceaee6ba CLINVAR:98986 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 850ee08d-7d9d-4759-a839-6c91eaad552e CLINVAR:866919 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ad3dcdd-2a7d-4076-95d0-64d4ff8bb86e CLINVAR:866919 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe714264-2d51-46cf-b114-0063d93c5f7c CLINVAR:4060894 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15c76b2c-05b1-4004-96b0-eb70efae983c CLINVAR:4060894 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c414fb14-2c0c-447a-9cae-129a0ca310c2 CLINVAR:2122675 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6b28320-f7dd-4ea7-be27-5d2910ced556 CLINVAR:2122675 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5dfe110-6c50-486e-9b84-84bf7d618c98 CAID:CA412370385 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d6c94dff-cee1-4d18-9291-0b6c4b4fbdf5 CAID:CA412370385 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ecec4e0-aaf6-49a6-953d-9f94c6bb252b CLINVAR:98988 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6900cde-c0ba-4b73-9ec7-3ec484bf190c CLINVAR:98988 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 735be7cc-24f3-4726-99b1-17b2a1cd998b CLINVAR:1478325 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d5a576c-9224-4620-be76-4eaabfd42be6 CLINVAR:1478325 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81ddcc52-bc21-473a-ad12-3c08eb3dc123 CLINVAR:13328 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40354329-1b75-45e1-9796-297c6357b197 CLINVAR:13328 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6445aaa7-9713-49a8-9d7a-b484a0c000d9 CLINVAR:40563 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca992dcb-653e-48b7-b31c-85e1d1584ba7 CLINVAR:40563 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5317cd52-fd24-4737-9ac7-a2ba9a557a51 CLINVAR:3609795 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 328d892d-05e8-464f-bb99-6420cb4fae28 CLINVAR:3609795 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d18616f-2b06-4b5c-a9b4-92bc01c7e576 CAID:CA409103850 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0bcb5a92-b94f-450d-8986-26f39a88f49e CAID:CA409103850 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 838a0f9d-9b22-41e6-b7df-be5d69c7af5a CAID:CA409103851 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94d300ef-9e56-4cb4-a7c5-7f39ae02eab8 CAID:CA409103851 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1eac2c8-a3de-42ad-aa21-90a7d3c23be3 CLINVAR:1723210 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7924451-4ecd-47dd-a300-69dd5b40436d CLINVAR:1723210 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bed35ad-2626-49ce-9cde-b5580c7ac589 CLINVAR:2580860 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c29abb09-3798-4c3b-a6e8-501c0f0d5cbf CLINVAR:2580860 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5348124a-60a1-443e-b7e9-4f63ca7fc8c1 CAID:CA2695203125 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f77a928-8267-4970-8a69-43a008af20f0 CAID:CA2695203125 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bcb47a1-8777-4a11-839b-17ff4529cd21 CLINVAR:3768773 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 498c812b-1ccc-4bb6-a5e4-37b99c0dc89c CLINVAR:3768773 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32d95039-8209-4594-a163-64db85281a46 CLINVAR:2136518 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ee987b6-c9f8-4e74-9971-368f51d17e1b CLINVAR:2136518 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18a69c28-f58a-44ea-b79e-4b3247764763 CLINVAR:2580859 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9612150e-d37a-42d2-8cc7-9dabb3630999 CLINVAR:2580859 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3db5a292-f449-4817-96f5-d69aeba98915 CLINVAR:381599 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1ba8ca8-feac-42cd-8ecc-4e333c87e335 CLINVAR:381599 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 876a8973-3e74-407e-bde8-d0b42527a6a6 CLINVAR:36248 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4dff5410-d69d-4baa-b71c-b9c255daa006 CLINVAR:36248 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8724d442-60ee-4f55-b39b-d6055efc6883 CLINVAR:503699 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9c2be54-7fbb-4d0e-af9b-cd95f42849ce CLINVAR:503699 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a921a6d-b7dd-40cb-9d62-10cc9198975d CLINVAR:496634 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8917377f-aad9-4c9c-ae14-f37c460a60d5 CLINVAR:496634 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86e6060d-4ebf-4c1c-b4f6-22b157de769e CLINVAR:18039 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73456840-4693-4711-aff5-a702cac81118 CLINVAR:18039 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22b39d7b-8bf5-495a-8c3e-ea93439dc749 CAID:CA343777358 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 930234de-82ea-41fb-b98f-b18f7442b3d7 CAID:CA343777358 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec14b7ca-bc77-461c-9b68-80a3926335ff CLINVAR:2736407 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 95c7a6ed-25db-4d30-b313-e9def7d241d9 CLINVAR:2736407 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b566cc9-62be-4d33-8996-b99eecc4174e CLINVAR:2152271 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f567bb2d-6eea-4fde-9ad7-ce006201a1c0 CLINVAR:2152271 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84846354-f806-4bd0-a9d0-7e1d4184290f CLINVAR:870937 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bd8ad9d2-7709-4fcd-a68f-2b00b846f32d CLINVAR:870937 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee6c6c8d-507e-481d-816d-aaf59464a654 CLINVAR:99798 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7afb628-3b7b-46ac-8f8b-3e76d34fbba1 CLINVAR:99798 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e004cb8e-7b5e-4dde-bbd5-036e77e54806 CLINVAR:635995 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 959aa7d7-45e5-47e4-b279-95ff953c00a2 CLINVAR:635995 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8da55e65-b734-4e9b-b8b6-ead6652dcb22 CLINVAR:5565 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f09169c-7907-47c3-ab6d-781c80b28a73 CLINVAR:5565 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02fc4862-f465-4059-9ef9-a6df7acb6d5a CLINVAR:99804 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a9209dc-428f-47f7-97f1-8c8affac83ec CLINVAR:99804 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bf274e2-be0a-4a6c-a6b0-b6df829b2d7a CLINVAR:5566 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6caba757-9d12-4c38-a478-920f9c50f691 CLINVAR:5566 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c52dd013-8334-4bb6-b934-5356493d3186 CLINVAR:65711 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a717c6e1-201a-45e0-9072-7716c955fae6 CLINVAR:65711 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 909ca70f-5201-4652-b511-cf14c5d93ad9 CLINVAR:574505 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a54d39e-9d4d-4aaa-98b4-eb6cf56e319c CLINVAR:574505 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79661e24-43d1-48b1-8c9e-ae60f13f5c30 CLINVAR:1451640 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f2f32fc-ac2c-4a36-8599-ebf31a620d13 CLINVAR:1451640 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ade39da5-0d9c-4aab-9f5d-1a12a4f03882 CLINVAR:813151 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d9974d4d-c762-4bcd-91ef-1de69ad5adb9 CLINVAR:813151 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 449910f7-cb98-4dc3-a2a9-c4c69597426c CLINVAR:812219 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3709fff3-4a76-4f08-a785-b701b80219ae CLINVAR:812219 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbd8b544-9bc6-4021-90d9-71516b743ed9 CLINVAR:5567 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d839632d-e277-4dde-8d3b-15104fcba841 CLINVAR:5567 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0540f08-03ae-44db-a4f9-322cf3e53dec CLINVAR:867104 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 440676b6-fc83-4685-a1ef-7c11e696d0e1 CLINVAR:867104 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ff13645-149b-4d62-bfc1-23a7b5d78e54 CLINVAR:1419404 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7bbf753-528d-4691-867d-c23e8de87fef CLINVAR:1419404 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d1f909c-958e-4d60-9fe0-c58254d79cae CLINVAR:2065408 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fdec0b8a-8109-47ff-80a2-77ac92f57de8 CLINVAR:2065408 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d51ad7d-e6d3-4608-b0ee-a7dd4cc4b182 CAID:CA397397299 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 56d176c8-79ed-4866-a1a7-b4fd86b4122b CAID:CA397397299 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f434a1f9-91f3-4b0d-9bbb-fc25bdb2b378 CLINVAR:324623 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12f5430d-26b2-45f4-80eb-a462806f5904 CLINVAR:324623 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 827a0e58-0a96-4afd-9f9b-d86ebb303387 CLINVAR:377207 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea44d12d-a189-46e0-8475-77fe626b7a8c CLINVAR:377207 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4c544f4-359a-41f3-9069-236bfa0a955c CLINVAR:1364499 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a4effc1-9cba-4db4-8558-4d4fae48f247 CLINVAR:1364499 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b10f828-8caa-4da3-af9c-70c63ac2127f CLINVAR:388828 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 566ce87f-afc7-44e5-ad5a-ee387e1d9752 CLINVAR:388828 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ccf8ec0-0d5a-418d-9a73-fb751d27b684 CLINVAR:99790 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bfb22636-2dd3-4884-8c89-b63821503abc CLINVAR:99790 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 203bc0e1-c5ee-488a-bdc0-83e24d7fa500 CLINVAR:1385342 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d22c98d-6767-4cb1-b52d-0c57e467f453 CLINVAR:1385342 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15b3fd0c-7df6-4bab-ac54-bec5cb0d94c0 CLINVAR:2754882 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf4ddccc-a716-4a90-a31c-12a95d843d30 CLINVAR:2754882 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a82a9af2-6daf-45f3-a22c-2c762230ca86 CLINVAR:1486676 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec8f4a8e-90aa-4408-a94d-6294f704a395 CLINVAR:1486676 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f54b325-17f5-41b3-85eb-926da79eadd1 CLINVAR:2178827 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf6f32da-abe9-44db-a95d-afa2de3f6b15 CLINVAR:2178827 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e891851-59d0-4564-85be-95472dd8aa44 CLINVAR:800208 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9add90df-e677-4f22-ad5d-ffbf6fd438d1 CLINVAR:800208 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 102cbe0a-a93b-45b2-8510-28b6c3b1e31e CLINVAR:1400984 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc05c492-d479-427e-aada-9b6fa9848616 CLINVAR:1400984 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8b4389c-37b6-4bb6-9064-f66890b5b244 CLINVAR:844508 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a16540f1-645c-4f93-b284-823ab47bce77 CLINVAR:844508 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1dd03a5-f83c-44d1-a0bd-5cb8bd928d52 CLINVAR:3513086 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1c2319d-fb66-4227-a32d-003145b4fd48 CLINVAR:3513086 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba5f1b83-1611-45de-a73f-f9f40b88e860 CLINVAR:953315 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84b0c1fc-25a4-4616-8c95-76eb13b76c00 CLINVAR:953315 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d9fb592-0d86-4a7e-9199-6274bec9bbf2 CLINVAR:2973015 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ad656d7-8e48-4d34-baab-1b82e8609fc6 CLINVAR:2973015 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf9df588-83d2-44ad-9d50-902f80b7bbeb CLINVAR:2736405 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9804da19-4471-4703-ae33-77b33b437a79 CLINVAR:2736405 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67f66eac-8f89-4a60-8bf6-a5f7f2b552fd CLINVAR:65709 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c241a580-0330-4fe5-b7fc-aa064728b5f3 CLINVAR:65709 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfa69b7e-9220-4a1c-af3e-f1e95cb39a00 CAID:CA2576142335 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 953b29cd-3dad-4b87-9d2a-8616bb02f251 CAID:CA2576142335 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 737bca88-ce85-478d-8217-3204070fb212 CAID:CA645590904 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1aedc45c-3b6e-499a-9afc-6ebbba1c837d CAID:CA645590904 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 085dc102-7eee-4d03-8ceb-420d9bef17d5 CLINVAR:916622 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a02f72a-0a37-4fa0-a436-56a82a9861f7 CLINVAR:916622 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db468f5f-0417-49c7-8a83-74b4bf46642d CLINVAR:636136 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1eb6449c-51bf-44a8-b5da-a5de17e55839 CLINVAR:636136 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad726f6f-22b4-4beb-ad7e-6f94207733e1 CAID:CA397397658 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8efe23f2-567d-43d9-bc08-1ff32bf791d6 CAID:CA397397658 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3855f60-88cd-425c-9f98-92e1584a8790 CAID:CA397397285 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b54788a-019c-499f-bf41-84c6f1b26616 CAID:CA397397285 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3534ee4-17b1-4c0c-8137-a5739f56e0c0 CLINVAR:496681 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3361c72c-95a5-47bc-bcf5-2e63c16c91d1 CLINVAR:496681 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02549cb8-7faa-471f-87bf-586226145401 CLINVAR:156598 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fe85387-ec8a-4d8a-8d96-953b8972a984 CLINVAR:156598 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98a9a471-6dd6-452d-a42f-fcfc8487784e CLINVAR:1700386 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac2131b0-2322-41d5-87b7-6b434b66ae54 CLINVAR:1700386 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26e9c663-e7e1-4fc1-88ad-dc79930cdefb CLINVAR:803716 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0bd14a63-a316-4c1f-9d18-7aba87943e58 CLINVAR:803716 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2b6f298-62db-48f4-a306-47c9f0211e4d CLINVAR:2105592 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 61015d2f-a58b-4807-8d9a-de584a8af0df CLINVAR:2105592 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d971bae-eea8-4f98-b772-ef68f24656fa CLINVAR:189549 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ee6fbd6-b901-4454-8a41-330a6bc10b81 CLINVAR:189549 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5473fa17-64b7-4d7b-9ddb-e61984683988 CLINVAR:211032 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0845e3d7-4fc9-480e-9525-b4af0dc3ad9e CLINVAR:211032 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90a7207a-8b3f-4168-be20-eb067225ac5e CLINVAR:1109435 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2839a6c6-2ed6-4fa0-97a6-fa509d4f7222 CLINVAR:1109435 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a03d79b-3ea5-43e4-8600-99ce89032f34 CLINVAR:1489310 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13c24d6e-2446-4c4c-9e89-c59a789e6997 CLINVAR:1489310 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b37fe2db-121d-4842-9b57-09d9abbf71d1 CLINVAR:692624 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eed0b732-5bec-4efe-a115-0739b7488476 CLINVAR:692624 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bed949f0-3fb5-49ce-8ace-0273a86b2b1a CLINVAR:692657 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ed07460-0651-450a-bc6e-e5c3fd1ae279 CLINVAR:692657 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e3d9085-1e74-42af-8543-61cff1bfeb5e CLINVAR:690197 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 82fa570b-fd2c-462f-82c6-c981a4c584e6 CLINVAR:690197 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ed99d71-5f68-4599-82da-cf9d866cca53 CLINVAR:690178 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c689838-93b8-4380-ad3e-4112b04fa52b CLINVAR:690178 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b75f936e-8820-4b42-95fa-9b1c417ee17d CLINVAR:693064 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1700b979-85a6-4305-846a-273d16478a29 CLINVAR:693064 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4c65025-4489-4920-a66d-f93135d8edfc CLINVAR:693105 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9373cda0-1dde-43d3-9191-e2d759e06286 CLINVAR:693105 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbc93480-4700-485f-9f31-19308b4b302c CLINVAR:267298 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50432d42-0623-464c-ba5d-e5a8db19dfc2 CLINVAR:267298 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7912f91a-9036-4513-a52e-3268a752e00d CLINVAR:9602 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c29f5868-2360-45fc-9bff-03b782ab2194 CLINVAR:9602 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2ced8a3-5522-4720-b341-46a9d72126c7 CLINVAR:474894 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de20c09d-4fd6-4503-91a8-26d7218f86f2 CLINVAR:474894 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1227b48-727c-4e92-98ad-c574b448f1f8 CLINVAR:92292 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1c7b818-d332-43dc-af1f-9b902ad5f3f7 CLINVAR:92292 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e98e6547-6259-453b-bab0-f2c8d3fe1835 CLINVAR:425918 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7665497d-49fc-4954-94a4-5898be5fd234 CLINVAR:425918 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c2bb88e-d6ca-41ee-9328-df5989e61ae2 CLINVAR:425780 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a7d0289c-5d4b-445f-9c4c-72b0c9535398 CLINVAR:425780 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fd2a20a-f440-4b9c-bd9a-e9db4d9ff43f CAID:CA412376034 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5bd4967e-3dd0-4960-964e-457423038509 CAID:CA412376034 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92d30194-5427-4d47-80d7-261703228493 CLINVAR:98908 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e76a07b1-8934-4e31-ad6a-8fd71a07291a CLINVAR:98908 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79da5a66-fa61-43fe-9bf0-600b61a0e45b CLINVAR:425781 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3957ebe6-bd4b-4536-95f3-612fce1f6564 CLINVAR:425781 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fa2f50f-a723-411e-95ed-1a5c1fc4a79b CAID:CA412376047 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8bc637e6-bbc1-440a-85f2-e5912550f04e CAID:CA412376047 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a8f5148-224b-4526-a74a-9d4ebc03a35c CLINVAR:2159556 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44268d12-4c2b-40e2-93b8-1e16498e2900 CLINVAR:2159556 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbff4dba-f280-466b-ba3b-b640180002a4 CAID:CA412376061 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c3270c4e-7af3-4f52-8306-34da8fe38283 CAID:CA412376061 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0c4531a-adc0-4c03-abce-7c0f4df174d6 CLINVAR:1700721 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2818262-fca9-4c15-b86e-66b38550d987 CLINVAR:1700721 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 128d8391-50c5-4121-82a2-13d33002348c CLINVAR:99015 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e2359c6b-cd67-467f-9c13-6ebb0cc3809a CLINVAR:99015 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14dda5d7-29fc-438b-8ae0-f4e8c4be9239 CLINVAR:99016 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d27b22a2-941c-4f38-97c2-516aa3080a6e CLINVAR:99016 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7985789-7516-43ab-b71c-113e0660f660 CLINVAR:98938 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e8d451b-a5dc-4f2f-8368-c768b0917a33 CLINVAR:98938 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c7f79df-4bcf-4537-a750-1585533f678b CAID:CA412740096 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9163c92-6d22-4563-ba49-d1955e04cf5f CAID:CA412740096 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55f2a0b1-dbbe-4614-933f-a24b2048d805 CAID:CA412740071 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4761850-77a2-4857-baee-b1e1399c34f8 CAID:CA412740071 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd14bfb0-a6f8-4563-b150-e1ade7390ab6 CAID:CA2695232679 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9b28c14-c372-4c7d-b6af-5d781a687733 CAID:CA2695232679 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc89cbc5-ee40-4b44-adfb-828321a5e12e CLINVAR:813223 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 545cde1e-e696-44f7-b230-430954d03db7 CLINVAR:813223 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67e782ec-986c-4445-ac93-2073567c7781 CLINVAR:98750 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 872b644a-53b3-4bd0-94ee-7eaceb5460bd CLINVAR:98750 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7efd957-d12e-40fc-bb95-28f66d31bcfb CLINVAR:98748 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8def7082-79e7-4c35-8532-e77fed532eeb CLINVAR:98748 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d424f67-6e1a-4489-a913-31178c1bc432 CLINVAR:996786 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d106ab0b-604f-4d69-932f-41030400b53a CLINVAR:996786 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61790b9d-03b6-4034-b123-e93fccd982f0 CLINVAR:427866 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07d32df6-afab-4e05-b63c-b8e084a7db97 CLINVAR:427866 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40d8a3b7-35a9-470f-9478-6269dd54c923 CAID:CA2693440397 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bdbe6756-25f0-433c-8a39-13aea9b0096e CAID:CA2693440397 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f188b01-7bf3-48e5-8cd3-8efafc0b0d22 CLINVAR:812416 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b3a2ee44-f764-4848-b6b2-8ac25331ed8c CLINVAR:812416 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 931693d5-7caf-4a99-8783-15bce5b5442b CLINVAR:2430213 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 70ffde33-31f0-4409-a862-1a3a7c4cfbf4 CLINVAR:2430213 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca12c72e-ce16-4e31-9652-b7ce0b6db575 CLINVAR:3249416 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e3b18700-e00f-49c8-a19f-a47f548db590 CLINVAR:3249416 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dfaa25b-a34d-4998-9598-6634f3c63e80 CLINVAR:813232 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f530b0de-3c87-4ae1-9187-99171f9558a0 CLINVAR:813232 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bf8d10e-5aa3-4921-9f1c-953bb649e550 CLINVAR:636102 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45649f1b-8057-4671-8b55-d461dc6e843b CLINVAR:636102 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39a87d92-d28c-42bf-80b2-923ee1e9293a CLINVAR:1993965 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 976ce010-1bef-4a38-b1f6-e0506d25000b CLINVAR:1993965 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64ffb802-7d33-428a-a460-e6504f519e84 CLINVAR:438137 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de8e46c5-467d-43c8-8920-25c7d6b68362 CLINVAR:438137 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52ac4a9a-6d06-4934-b162-4c7c3d053058 CAID:CA412739364 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c991b71c-62a5-41f6-a92a-aa3f87b02080 CAID:CA412739364 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe2f057c-e06b-4d3c-80df-a08a7b26167b CLINVAR:98739 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82fbbe8c-3a17-4b63-a557-0f9aa3e79bed CLINVAR:98739 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0f1c8b0-7dd9-4f84-a0da-fa92ae834f17 CLINVAR:866558 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ec7c23b-e2cc-4c78-b7b6-79c5e35d0bca CLINVAR:866558 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83ada03b-37da-4497-9a58-f5f3867257ee CLINVAR:98738 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3f666d70-8963-4ed4-a5d2-b2d6c6518b8f CLINVAR:98738 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b06cd93e-6e7b-4616-96d8-f09b8e123e8a CLINVAR:98735 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23471c0a-d971-4b24-a802-5443313f90a8 CLINVAR:98735 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19cd8db5-4fd7-44cd-9666-9311fa15d64d CLINVAR:98736 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9099e4f0-5479-457d-bf9f-a9377f59e685 CLINVAR:98736 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ef3d95a-6264-44b8-bdb2-21f6f048c375 CLINVAR:872283 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8efca6d-16b5-408f-9dc0-711f2fff9f9c CLINVAR:872283 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df541288-cdf7-4cbb-96fe-94bc06afd145 CLINVAR:98754 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a5f7023-15e2-4418-9172-ed6a9a76c5c1 CLINVAR:98754 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e1cbd3e-f710-40a6-8c31-fb5c827836b4 CLINVAR:1928684 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9145c1e5-589e-4406-9e37-c937eaf018c1 CLINVAR:1928684 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3beb8f3b-6c5f-43ec-992e-2d60e74dc30e CAID:CA414891065 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67bb3aa0-985f-4b4c-a930-5e0d3dc97005 CAID:CA414891065 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4275b5da-8a35-413d-b196-e3fe86a1ac4f CAID:CA414907101 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db802c06-0773-46fb-b09d-5a24bb12aa80 CAID:CA414907101 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d8240e4-7b5b-406a-a685-c722fc791b91 CAID:CA414443534 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e491a98-6896-429a-9fda-6b52ad28e493 CAID:CA414443534 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a50fea4-0529-4907-991c-57d434042ccc CAID:CA414443538 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f093c37-296f-4f84-977f-94f44e4e4846 CAID:CA414443538 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14e8ec0f-a1dd-4461-9b8a-bf0629359e56 CAID:CA414443541 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7cd7cb10-2d7e-4a50-8734-ed9cdca73f68 CAID:CA414443541 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c63db3e-89d1-48d3-a743-2e82c08bcaa9 CLINVAR:425783 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bcd2e696-4f06-4890-8e36-7736ea67a8f0 CLINVAR:425783 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d884deb-a1d2-411d-9c63-6add4acd4a6d CLINVAR:431553 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29f8d75e-775e-4fb2-8b2d-641a39bfcf26 CLINVAR:431553 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44d44ba0-ce2e-41da-9dda-9dc6deea8500 CLINVAR:251960 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a9acedd-abd5-4de0-8bd9-0b36207c5e08 CLINVAR:251960 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78d8e24d-8243-4509-9815-2119f809fb51 CLINVAR:3231953 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6067b81-2182-4172-a693-2be0c7538b14 CLINVAR:3231953 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94de1212-0ae6-4a1b-98fd-c0dd108f3d59 CLINVAR:491662 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae7d55ca-460b-46cb-b848-84781b4c7dfb CLINVAR:491662 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de735fe8-c5f6-4e30-b253-876c1f21cb71 CLINVAR:440674 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a61e9ec5-546e-4063-8912-98040c7b9e2e CLINVAR:440674 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e36640f0-3b6e-4a20-a241-4dc7cc082852 CLINVAR:186005 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0fe4c5fb-83f6-4964-88eb-2d2e87b4d0ec CLINVAR:186005 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37737954-dbe0-426f-b9c8-19a3f0f8e4ae CLINVAR:3583501 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 393223d6-2c84-4d5e-93aa-995cafc6c559 CLINVAR:3583501 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cde293f4-7699-4bb5-b7b5-0e1331bf5e33 CAID:CA402997146 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ad50ee51-b6c1-4e72-9a4e-0d1642874acf CAID:CA402997146 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90f3d59b-b00a-4fd9-9d5e-69728650e746 CLINVAR:282410 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab74068a-6899-4951-b659-6d11522c925a CLINVAR:282410 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed0d460e-c9f9-4592-a552-4d372d562fd3 CLINVAR:557110 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82bc6af3-6856-4d63-be0d-586d31e9c022 CLINVAR:557110 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 961d1be3-d52a-4bb3-8112-e391ed9db0f7 CLINVAR:265488 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6faf8b80-2d42-4667-8075-f259afd37228 CLINVAR:265488 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5423a9f0-d1ee-41ad-85bb-313858fe996d CLINVAR:551669 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd3a48c8-1b9c-4946-a866-66c5d18b1e4b CLINVAR:551669 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5252f623-e831-4a49-ae1e-3e5d80dec9fd CLINVAR:551891 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81c70077-ddd3-4b7c-ad18-9967d02528e8 CLINVAR:551891 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 510952cd-b767-4b26-a73d-e72f62ae7c42 CLINVAR:6666 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9791128-f9da-41a1-9ce8-97250f1c1812 CLINVAR:6666 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1874e9a-197d-4b65-80b8-caa8b5d182a8 CLINVAR:290198 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 67d6fd47-aafb-47e4-8e60-e2bec13ef4e9 CLINVAR:290198 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 132532f0-9830-4c3a-a5e3-248414e8bf52 CAID:CA2837995559 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60f3faaf-1467-4678-b6fd-a7f9fc35737c CAID:CA2837995559 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94bfa26b-f3a3-47f3-8bbd-ac6f7e74d631 CLINVAR:285153 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de985b05-ae6e-4890-ada5-cf4f353ab05b CLINVAR:285153 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f80c318a-a7f9-41d2-881b-d286efeed4c5 CLINVAR:290283 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 948862d5-90a9-4b6a-8c9e-108179ad8d18 CLINVAR:290283 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b67d732e-27c6-4c10-97e1-1cba522fb163 CLINVAR:217223 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 235f272f-e6e7-43c9-988c-5cadcfaac308 CLINVAR:217223 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1a1bf7b-8158-4f3d-bbcd-9d35e2a3e875 CLINVAR:100333 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dff0a4b8-124c-402d-a6df-1564c378e51e CLINVAR:100333 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05aaf831-009f-4227-aa36-e3f5b2a0595c CLINVAR:100316 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2cb0e002-bfc3-4513-aa2d-7853e136a541 CLINVAR:100316 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2756597d-42e1-4080-8f34-2b35c416962b CLINVAR:100340 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4de89e2b-1866-45c1-b682-cfb358673a16 CLINVAR:100340 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6a93592-0537-45f4-885c-df6c4fd51549 CLINVAR:100395 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18239784-33ee-4013-a6e9-dd8cd8bf2b77 CLINVAR:100395 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dbb2803-6861-44c3-9bda-ebdcc70e2478 CLINVAR:2504480 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58892dc7-2cde-4fd8-b4d8-d2a462a87d6a CLINVAR:2504480 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d02b3763-6ab3-4a64-856c-a0c5a8466bb8 CLINVAR:619741 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eef9e0c4-a924-4968-b808-683bf2274def CLINVAR:619741 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4fee181-72fa-4d91-99c8-8cd6173dba9f CLINVAR:100314 biolink:associated_with_increased_likelihood_of MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73751c55-b150-44e7-b56f-7c7941a19770 CLINVAR:100314 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8a1b6d9-681d-4c08-b311-21c8a1063ccf CLINVAR:31012 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 21ca621e-ef6f-40fa-b3e9-235fd9706dcb CLINVAR:31012 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 304be7ce-599c-4f23-8f10-cb22a244638b CLINVAR:102691 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65f82e76-0d1d-4cc4-bc06-dea4cd0b0a63 CLINVAR:102691 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3da3b9d-9309-441d-b64e-282b90077f66 CLINVAR:102690 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff804f2e-7648-4039-80fd-eecc17de4dcb CLINVAR:102690 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 717c94ac-f40b-43e5-ab90-19ad192cd7e5 CLINVAR:3771197 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5311298-b173-46a4-b71e-631ee26e71ef CLINVAR:3771197 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f174819-baeb-434c-81f0-a2c9ca6dbb14 CLINVAR:102898 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f371a1b-2c23-4945-8dc6-030e0949975c CLINVAR:102898 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 119f0895-fc74-4c3b-96ee-37571f0ef5f9 CAID:CA16020893 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff9b0a76-f31d-4df4-b362-685edbc4b1aa CAID:CA16020893 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcf37f60-12e7-4a08-b12b-b41ff61a0013 CAID:CA16020753 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de49ecb9-0a7f-4833-af8b-0c671bb378f1 CAID:CA16020753 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79a8da85-ca1b-431b-b6f4-0e27f110b1f1 CLINVAR:4526408 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ac0ec28-4f0a-447b-96b9-4dead7ec79c7 CLINVAR:4526408 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b98fbcbb-bdfc-45f0-ba9b-228e0a7d5602 CLINVAR:1337271 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e32f76de-f01e-496d-92b6-7aec7fba96f9 CLINVAR:1337271 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b120f02-fc7e-469f-9179-c63935c895a5 CLINVAR:4526409 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18328a6a-486b-4c6e-a86b-375866948aeb CLINVAR:4526409 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c66fac4-f418-41d4-9526-7cc78c69c446 CLINVAR:4526410 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4aadefb7-0324-4bc9-affa-d3de9fdbe709 CLINVAR:4526410 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f7f5f7b-de36-4e12-b32c-7a20956cee27 CLINVAR:4526411 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf899aa6-a805-445b-a107-e7a50d30aece CLINVAR:4526411 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f47c0ca-a1b4-460e-afd6-98ea2b72d4f9 CLINVAR:4526412 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57102dd8-639c-4d70-bd0a-23dec07280b5 CLINVAR:4526412 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79d121ff-3b95-4b86-8777-6f84af796a0f CLINVAR:4526413 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8ec757a-f37b-4774-a2e7-28ab02d00c77 CLINVAR:4526413 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fb5d6c7-6991-437a-b581-f030dfd28af7 CLINVAR:1299755 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 423c8cbc-4198-41d3-ab58-d6e6a60fb1e6 CLINVAR:1299755 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2b27286-61ce-4de5-ac1f-99e2eabfa62a CLINVAR:1184991 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54003fe1-3c2d-4895-8554-6d65dd1a1483 CLINVAR:1184991 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71aa19ac-7b32-45b2-8639-6f1e039337c7 CLINVAR:639529 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 86d91899-093d-40bd-9d8b-c0745c018183 CLINVAR:639529 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70ab6838-9f6b-4140-a1cb-6962ddb823e6 CAID:CA2586965986 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 144fb844-b34b-436a-a068-b6584112c650 CAID:CA2586965986 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f6b7d71-53ba-428c-abc3-b78be79a8829 CAID:CA355961124 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99c21fc5-670c-4bfb-ae11-afe9795c737d CAID:CA355961124 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6cd81e4-7c74-407e-a86a-2aa35acdabe3 CLINVAR:2432701 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8268b62c-c0f2-45da-ad98-b785e7be19f0 CLINVAR:2432701 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f6e934d-5cba-4c12-80fd-f29417941762 CLINVAR:712785 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c1c1be8-c6ae-4199-be2f-1573d786bea1 CLINVAR:712785 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4235ca53-cc3e-48fb-92ae-563486c79b09 CLINVAR:2169563 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee305226-8aed-4da3-9a8d-6a7c347f6cfd CLINVAR:2169563 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a47e5221-0734-45ee-ac81-2640394be407 CLINVAR:422096 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 556db035-b484-4883-801c-1975e68e6f04 CLINVAR:422096 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4de6dd11-be1b-46c0-bbd6-8165e5ac99e8 CLINVAR:140907 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a4a28f4e-f365-463b-89ed-9ef5cb3c86f2 CLINVAR:140907 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8406e218-0aca-4c88-9346-0ef84a4717c9 CAID:CA2580610837 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1ed6fbe-907e-4828-a1ee-4da2887e3230 CAID:CA2580610837 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acde535b-60d2-4036-a71d-94819f1e4ee8 CAID:CA2695215245 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b463140f-9a38-4757-934a-638a99cc8d5b CAID:CA2695215245 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b49f0132-e0cf-4403-86f2-911c352e5f2c CLINVAR:407525 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b75b435-f3ac-499c-989f-16aa9ba4a273 CLINVAR:407525 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 513cf3cc-0906-44b0-a5df-6b57f1e7b316 CLINVAR:4281695 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1b135fe-b939-45e6-803f-db6fd6aa790d CLINVAR:4281695 biolink:is_sequence_variant_of HGNC:28519 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afc121de-cd59-4203-a124-48d0bc7e2950 CLINVAR:2780229 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 193a3a60-3f21-4c27-87f4-60f12d22fa6d CLINVAR:2780229 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4a7729f-8474-45a2-8b95-90e5af41271a CLINVAR:220763 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24a28c82-c7d9-46e1-b239-7fdeeaa1d738 CLINVAR:220763 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbbfd628-43dd-458c-85ff-924770205468 CLINVAR:938483 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ad9efcc-a9d3-44de-9768-8b4ed3e5c180 CLINVAR:938483 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c655b9f1-3435-4e13-9e82-7093337dd3ca CLINVAR:2780233 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a20fa529-f8d1-4721-98b6-4f30b33a664a CLINVAR:2780233 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6a7bd67-b317-4029-9cf6-6c61c812988b CLINVAR:634428 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d92e55fb-f4eb-418a-b2f0-25c239e8c146 CLINVAR:634428 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6038b71-1274-4f64-8134-6767c3a654d6 CLINVAR:254753 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ecfb1cb9-45fe-43af-bc74-b0e61e878fa6 CLINVAR:254753 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9667acc6-7306-4d62-bff0-a7590619066f CLINVAR:2734039 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen da0a0f21-01a9-46ea-b6c0-f444b8845d2e CLINVAR:2734039 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f669e561-4439-49a1-bf5e-27257974294b CLINVAR:1066706 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 278d57c0-b6eb-4ff5-ae07-f4b294bb2b6f CLINVAR:1066706 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43a49f2a-d647-4e70-a21a-bb1fd3bf2b76 CLINVAR:1454754 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8102ae7c-9fbd-4f2b-85dd-49e4687d9842 CLINVAR:1454754 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ac65d79-2f65-49f6-958d-304de7c02c2e CLINVAR:120269 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ebcbd41c-7348-426a-8831-44e4d6ceec3f CLINVAR:120269 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53139c89-f7d9-4d7f-a93c-849c07e8c88d CLINVAR:561237 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 818a16eb-69b3-4dbd-adea-c435207ff34a CLINVAR:561237 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbae21f2-1aa2-4bfb-a013-b0f27b67ab79 CLINVAR:189996 biolink:associated_with_increased_likelihood_of MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d3f58af-550b-4416-99ee-34cbdc12a804 CLINVAR:189996 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f6ea95e-3fc2-424d-95d8-e9547adeb7fa CLINVAR:646006 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24835603-4784-406f-93a3-11382a1cd207 CLINVAR:646006 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de5c5cf6-a2eb-4e57-8f77-4fd79bcd347f CLINVAR:428265 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8a2633f1-ff8e-4322-87df-84001a933b5d CLINVAR:428265 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87eb743b-8d1e-4750-8ac2-3554646e24b0 CLINVAR:1514764 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3860fa2c-4c5e-4349-aab8-f2a82f1aab41 CLINVAR:1514764 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e546adf3-0ba4-4364-a3a0-74c3136315ce CLINVAR:985518 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58f5a6e3-1d58-4116-a893-043f9961d41a CLINVAR:985518 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33006002-882d-4f72-b4ba-29eac9d0e2f0 CLINVAR:978723 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3f12bf6-dfc7-49da-b28d-c11d472f709f CLINVAR:978723 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5c8ac4c-ac4a-48ca-9bd1-19df9edd2166 CLINVAR:155885 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c5e4900-7e77-49d3-9db8-592a95af6d48 CLINVAR:155885 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ebd8251-707b-4624-a523-a3b94737ebcd CAID:CA6831693 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1bb9a188-3b7b-4659-ad24-d8192f0045ca CAID:CA6831693 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f19a908-ca98-4a49-9850-bfff54a3bb95 CLINVAR:3341140 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c1dd48a-be41-4ae4-9054-34a871e9fbab CLINVAR:3341140 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9720eb36-8be2-40f7-86eb-99c53532f8ef CLINVAR:2580863 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dbe8ba5e-c245-4e7f-bcc8-76675bff92ed CLINVAR:2580863 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dea6c89f-db08-4722-80a2-e7c252ea8ad8 CLINVAR:2580855 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 16ddb16e-800d-482a-abd4-6d24a6f679bd CLINVAR:2580855 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17219681-2e71-40e3-a739-209758ab5b24 CLINVAR:1405403 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c02a64ee-02f2-4951-8044-97632bda5c31 CLINVAR:1405403 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8507aa8-2967-40be-b15b-24adaafad165 CLINVAR:9623 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a51df31f-662f-4681-8668-c2e49ccabb8a CLINVAR:9623 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d25700b-af68-4909-8e33-764a3ebefb9c CLINVAR:30000 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd8cda99-ad72-43dc-9a43-4eb8a9ce05d6 CLINVAR:30000 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f821d92-688f-4bc9-b036-204e4b41ea79 CLINVAR:440611 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96abe23f-88f2-4e21-bc34-cb8e1bbc2ef7 CLINVAR:440611 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 548f05e1-adcf-44fa-9993-cd42bcbd5f7e CLINVAR:690211 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a884216-d06c-44c4-ba95-089049d72cbc CLINVAR:690211 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9351ce55-627a-4fe9-977c-bdf3807fe511 CLINVAR:690233 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd43ec54-1b93-4899-bbb5-90d030611eff CLINVAR:690233 biolink:is_sequence_variant_of HGNC:7499 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c0efbf4-fdae-4321-b6af-b55e03c2138e CLINVAR:9614 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2772964-4eca-48ae-9dcb-2c32aafa1f54 CLINVAR:9614 biolink:is_sequence_variant_of HGNC:7495 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d11813f5-6f80-46e1-988a-6297ec1ba06a CLINVAR:9621 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2c5f6f4-ede3-4729-a74e-109c8bb9edf9 CLINVAR:9621 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26f4e9d8-53e6-4700-a511-4496122500de CLINVAR:560167 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3b67a42-f682-4dc6-8eb1-9d7a0747a090 CLINVAR:560167 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32168f2b-f9fb-49f7-9b4b-2e5989214ee6 CLINVAR:9574 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f0dd39e-cfff-410f-87ba-a1b2b55f6fb4 CLINVAR:9574 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 399b75b0-f1c8-49be-b5e3-b7f77a1befda CLINVAR:9577 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c64c3bf-6219-4ea7-a920-fdd1682b74ad CLINVAR:9577 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 535eb1d5-5b85-4cfb-81ac-847f5bc1dc1d CLINVAR:9585 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7afa04d7-6dd6-4f1e-b3eb-71f53541de06 CLINVAR:9585 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ae2d52f-a10c-4b75-9355-ee2c387990ed CLINVAR:690084 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b5b3ed7-4805-4990-9994-e4b8d7a98893 CLINVAR:690084 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52bd2d5b-5dab-408c-acee-032b2fc80299 CLINVAR:693047 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c357c377-2f7a-4cf3-b1ea-439f53681630 CLINVAR:693047 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3c4659b-04ce-4661-a738-0ba392bfd00e CLINVAR:418437 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dbc3eb61-ebc0-42fb-8d38-802514faeb42 CLINVAR:418437 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38027838-e574-499c-9d2c-a099d30d48bd CLINVAR:692427 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74d70df8-c68e-4941-8355-10c377f1431b CLINVAR:692427 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1974e8d5-ddde-4e71-a1a7-6427b945c790 CLINVAR:2682110 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c84c7178-7299-41c9-bf6a-443efe526712 CLINVAR:2682110 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57503643-8097-4196-a7ba-d2759082368f CLINVAR:1191879 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75098eeb-8084-4d74-b281-1a4cc71e2374 CLINVAR:1191879 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe44f7c2-a90e-498b-8762-04d125f693f5 CLINVAR:689873 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dcf1c3bb-535a-47c8-bab5-43a68f78a049 CLINVAR:692717 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea16d6eb-a22b-4e59-8e4d-4d834a539056 CLINVAR:692717 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b93e2fb9-7c5e-4930-9319-8199c1abe735 CLINVAR:869395 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2e23a63-90f9-45b0-aa96-087f00f4867d CLINVAR:869395 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 552c3af5-6a14-44fc-9318-be556142ef58 CLINVAR:2328709 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39db2a72-e92c-4a29-86a9-d9eda5277abe CLINVAR:2328709 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06dd1ff9-c6a0-4953-b58a-d5b012e26754 CLINVAR:2074473 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f895f5e-a192-41a8-964d-5f0fdd0d367b CLINVAR:2074473 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9cfef4e-34b8-4edf-8fae-b52d10213a76 CLINVAR:1677264 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0cf9ab4-8135-4ebf-8865-9ff60d6bf78e CLINVAR:1677264 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad0ed295-353a-4b22-b731-67444f493757 CLINVAR:3902269 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 391e1a25-441e-4007-81b8-a1868f016446 CLINVAR:3902269 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 755e633b-77cb-488d-91ab-58b82fbf68fb CAID:CA8314813 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 121441a5-90d9-4096-9bbf-13ba76860014 CAID:CA8314813 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8fd4e9c-dd7e-4b34-85a5-38e7c8b1983e CAID:CA397319104 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen abd0be3d-b3ad-4593-aca2-c69122292e1c CAID:CA397319104 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4464c04a-a62f-40f1-bd29-05de454fdc20 CAID:CA2695224148 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4be8e718-0cd9-4559-83d9-bf722b74f62f CAID:CA2695224148 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35e108ff-dde2-4ff8-927b-1561312d9b21 CAID:CA2580610939 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d98f65b-b7b0-49c1-a997-17fd088fcc00 CAID:CA2580610939 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 996ec518-4a45-409c-aa54-f8d882859534 CLINVAR:3251584 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c296105-2c5c-4aca-a63b-a2098748fd8a CLINVAR:3251584 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfc551cc-9f2b-4f06-9279-cf5ce7d58c35 CAID:CA2695224150 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aee1e86e-8b75-4046-af38-3ea687883460 CAID:CA2695224150 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7c734f3-0515-43eb-a44a-c5afdad7e6ca CAID:CA2580610940 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53dd0124-5817-4ee2-9cc7-575242090736 CAID:CA2580610940 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19f851f1-25f1-40e6-855c-680c6905e5ff CAID:CA354447939 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 476bbe70-f9a4-4340-83b5-3945a09da43b CAID:CA354447939 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f716e8f9-2f11-476c-bc1a-831d752220d0 CLINVAR:1684385 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 837ed639-c7f3-4164-8e1d-da2a3eb79a1b CLINVAR:1684385 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7995205f-6e4c-486a-a476-4b2d9fbaa990 CLINVAR:693512 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86ff3c3b-8527-4382-b6dd-3dc3943db3c9 CLINVAR:693512 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42e2316e-e946-4ac5-a6ee-b11846a18416 CLINVAR:370052 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62ebed11-e314-4ec7-a843-0f7a14b5cd05 CLINVAR:370052 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d11fa7e-95ce-40f1-82b3-cb08816a1633 CLINVAR:690112 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 120be824-b7bb-447b-8a1e-ebab8f0a0ebc CLINVAR:690112 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 633302bd-b916-431e-bf11-ef775432cb0c CLINVAR:290141 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9a34f0d-f8ea-441e-9c33-61e151d22413 CLINVAR:290141 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8b56004-d6a7-4e13-ac0b-8eb72f3b5a27 CLINVAR:290284 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c01587a8-d16c-4bc1-8916-0a80e5d5aba8 CLINVAR:290284 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 787ac016-4ad1-4c3d-b6bd-ac43bab4d044 CLINVAR:94269 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b2c76ce-bfb9-405b-ad0e-2ef2a3d178ec CLINVAR:94269 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8eefa0b1-266a-4c5d-ac2e-415fc4ddc564 CLINVAR:284254 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c41b6e70-e594-476a-8367-4bace7969df8 CLINVAR:284254 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a40f449f-94c7-4ed5-9221-e4b2204d4869 CLINVAR:281062 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9ce2e2c-f2dd-4d4e-ac40-05c7e2f7dd43 CLINVAR:281062 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d60bd50-9642-429f-bced-798bf1b57add CLINVAR:290309 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc40cd82-eb9e-4ab8-aa06-32678956a432 CLINVAR:290309 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60124f95-4fea-497b-92cf-dd2d79339564 CLINVAR:94367 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38357507-17e4-4996-8618-de8a3003ccc1 CLINVAR:94367 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 820e3c2f-785b-43f6-a855-71cb051bb96a CLINVAR:973317 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f90f986a-8c7b-4cb9-8f0e-e9f7b92be824 CLINVAR:973317 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d53cbb13-4a59-4031-9471-36d574a5a942 CLINVAR:2758089 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a349fd18-9ba1-43ea-a9ba-9efc99460d67 CLINVAR:2758089 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a713f1cb-fde5-43e1-b7a2-ac3c7310d1ea CLINVAR:1444196 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7eed743d-340d-440f-80ef-930c26b746c8 CLINVAR:1444196 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f3c8682-7035-4908-9a2f-a7a0258d276d CLINVAR:595306 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0eb63a6b-9dbe-4aad-9128-08516e5aad53 CLINVAR:595306 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a77f8063-30ec-421c-924d-2dace4e751c9 CLINVAR:468639 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4ba76ab-7ebf-439f-a167-bd9e85a3d389 CLINVAR:468639 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52263302-fb72-4127-85eb-a74af60a1eac CLINVAR:2137655 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7004e108-8a9c-47b1-ab15-564bbd1530f7 CLINVAR:2137655 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e11fd51-2147-4f3b-9e4d-1261b7188c44 CLINVAR:555770 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f63926f-edd3-4f42-a634-f1d757a2ec51 CLINVAR:555770 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55e8464e-42fc-41c6-881c-093e97bc9fad CAID:CA3050533369 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53b2b28a-fba8-4129-bae6-bcc263fdd5c9 CAID:CA3050533369 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 347f9f44-67ba-4e3f-8b95-40287d3a116e CLINVAR:963357 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0646321a-861f-4bd4-8f0c-c1c5213b140d CLINVAR:963357 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee09d92e-73c0-4459-bfa0-bdaadc2da317 CLINVAR:9678 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8125575d-adf4-4dcc-8202-8a2caa83c151 CLINVAR:9678 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30b848c3-9d0d-4d84-a0fb-b460b7d4cf55 CLINVAR:422744 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6323ef19-8d80-4244-bf4b-7114625afb92 CLINVAR:422744 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f497e588-2787-4de0-8a72-2864a0b5fa7b CLINVAR:2688626 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7376085c-bc86-4740-898d-5dd74005f5df CLINVAR:2688626 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0877dbe4-6fc4-4b56-9481-f13829ee44ac CLINVAR:483466 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37cd6971-5593-40fe-a418-18e8c0a004d2 CLINVAR:483466 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59d04ab7-3dbd-4a93-a49d-e98549e1eb86 CLINVAR:933019 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6f0336d-0ecd-4fd7-8780-ad774cd81e09 CLINVAR:933019 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bebcb98-1763-4f99-8c7f-a6eb2bbe3623 CLINVAR:1718629 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17aed0c9-a6e9-4da7-9982-42ffc07dd2cb CLINVAR:1718629 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff120caa-960b-4b71-995a-81c37c3b2d8b CLINVAR:543626 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b706b4ee-af5a-4de8-bc20-8d5009fa2227 CLINVAR:543626 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77945dd9-e368-4778-b538-4bf96bb35892 CLINVAR:571148 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 877ef984-3f15-409f-b845-aa741686c5eb CLINVAR:571148 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 885b5b55-454a-4981-a0a1-2bc4cdc9595a CLINVAR:933054 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 35ef0e76-2543-45be-8549-7e2e51df0b67 CLINVAR:933054 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cb58395-bb88-4b04-9f9e-1bf3af0706e1 CLINVAR:485533 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88cddfa9-423e-48de-bb64-493c6e7977e5 CLINVAR:485533 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e780d9da-cd3d-4cc4-bc4d-bc2edb8c53cc CLINVAR:1055290 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b0bd29f0-8b5d-46e5-a44b-7553a2ae9e62 CLINVAR:1055290 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d2f6e72-ba7f-4235-9b40-e68ba60296cc CLINVAR:412195 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2a26d7f-7045-4d46-8771-d132011d399f CLINVAR:412195 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2d10928-32f5-409c-b8c4-42469558097b CLINVAR:819257 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e31d30b3-074b-4b94-8363-73db2beec6d3 CLINVAR:819257 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed64fba0-5851-4125-9db9-ea16e057e07a CLINVAR:1057551 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a66d167-1b34-416e-b87f-24fe47a01054 CLINVAR:1057551 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88c9e7d1-7126-4c24-8819-a11b8675dbb0 CLINVAR:3393370 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fc19887-d986-447f-9fa8-dce861017a4e CLINVAR:3393370 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bb3311a-eb6c-4b57-ad3d-ad5434dd54a3 CLINVAR:45191 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7819da3e-990f-49b3-9fce-df34888379a5 CLINVAR:45191 biolink:is_sequence_variant_of HGNC:143 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23381347-9b06-421d-b9ea-4ee7c83ab89f CLINVAR:920028 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a33f9a81-a7d1-4ca2-91a2-743cbc856729 CLINVAR:920028 biolink:is_sequence_variant_of HGNC:143 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d91f0fc-4a67-40a8-abcd-f49e5ea719f2 CLINVAR:42644 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eeb7be80-2508-4fb7-93e5-f5c3858369f1 CLINVAR:42644 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20c797d8-07a6-46bb-b597-73e993a92e2f CLINVAR:42541 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0046c555-2f1f-4e14-b5a2-72a90aeb1499 CLINVAR:42541 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be547d01-e2c5-41ba-acd0-73c1fa124c3a CLINVAR:42540 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aca57a3c-86a6-4374-b4d4-8219dfbc0dcc CLINVAR:42540 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85ceefbe-a2c1-4efa-a440-5fbe27cdd98e CLINVAR:42744 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38d0d113-f0b1-4a90-9381-9c4c09516666 CLINVAR:42744 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d773e981-7f00-40f9-aa8c-b8a18eb9e3cf CLINVAR:42827 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41cf4600-23b3-46e6-88be-ef36fa844e4f CLINVAR:42827 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a92f66b6-8c80-456b-8dc8-4e1dc9c455af CLINVAR:423350 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc4aab93-d2b6-477f-a7ac-d3d51f6003e1 CLINVAR:423350 biolink:is_sequence_variant_of HGNC:7583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f945eede-759d-4762-affa-a66b76465ea9 CLINVAR:177824 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bfd65480-60e3-4562-bb40-7bbfaa652bdd CLINVAR:177824 biolink:is_sequence_variant_of HGNC:7583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e785c87c-219b-4a09-9add-4ea47b35f919 CLINVAR:43121 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 567a70c1-5179-4d8d-936e-fedf8252afe8 CLINVAR:43121 biolink:is_sequence_variant_of HGNC:7584 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17cc8404-747f-43c1-b008-b7393b550639 CLINVAR:31780 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e787cbd-5c8b-4e85-8cb9-589502d889fe CLINVAR:31780 biolink:is_sequence_variant_of HGNC:7584 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37285383-651a-47aa-8bc9-22c23a778e9d CLINVAR:165510 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3279b343-b599-4c61-afa4-d3a6023c465e CLINVAR:165510 biolink:is_sequence_variant_of HGNC:11947 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fe424d5-d279-4f28-87f9-363fca5cae03 CLINVAR:12424 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2ffabbbf-ebb6-4485-98a7-bfbbc6f4e85c CLINVAR:12424 biolink:is_sequence_variant_of HGNC:11947 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f21b566c-7e25-4e90-bfd9-68eaf0981461 CLINVAR:927565 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a5120d1-b927-4d31-8e31-f0fd97bc0894 CLINVAR:927565 biolink:is_sequence_variant_of HGNC:11947 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b25c6d3-86f3-444e-a645-6607d00e866a CLINVAR:43628 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0f90e5c-da2a-4b4e-abbb-6307184a196b CLINVAR:43628 biolink:is_sequence_variant_of HGNC:11949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58f2eb6a-7cb5-4f85-888f-3a87873c5710 CLINVAR:43648 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 838bc50c-444c-4378-a213-de6893aa8056 CLINVAR:43648 biolink:is_sequence_variant_of HGNC:11949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a5f3a8e-787e-46ce-9052-ad36e950005f CLINVAR:43676 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d143594c-ca8a-4feb-91c4-202b1bc8307f CLINVAR:43676 biolink:is_sequence_variant_of HGNC:11949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6efc1441-7bf3-4203-8d6e-fdfc7d4c8675 CLINVAR:31885 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc068d88-ccd5-4f53-96ea-e4240a1dc85f CLINVAR:31885 biolink:is_sequence_variant_of HGNC:12010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f29d0723-09bf-4c8b-aeae-23de675d8096 CLINVAR:18331 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1cb1a049-4bc6-4ddd-bdc8-3638c711315c CLINVAR:18331 biolink:is_sequence_variant_of HGNC:143 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93f6113c-b587-4996-8f83-cbb28859fcec CAID:CA391629069 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbeda382-0152-4d04-b179-b040c0733a40 CAID:CA391629069 biolink:is_sequence_variant_of HGNC:143 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b35e51b-0d06-4084-b43b-9c0632c99b4c CAID:CA391629706 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41d4c0a4-f2c8-490f-b0bd-8e3b8c9f299c CAID:CA391629706 biolink:is_sequence_variant_of HGNC:143 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4904df1-085b-4552-b1d2-88151d3d0c91 CLINVAR:164113 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 09a9ba73-9b26-4c1c-b64b-e55a310cb4ae CLINVAR:164113 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcc5bb17-24a6-4595-8a71-5c2a1f63d419 CLINVAR:42537 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d81910e7-4d43-4295-941e-03493553a8bf CLINVAR:42537 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e42ebe83-8531-4382-8a34-cdf510ab4caf CLINVAR:164114 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0accdb9c-56e1-4cb3-9cc4-47813b607125 CLINVAR:164114 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2496373-d37b-473e-aa26-6cc5ab41d701 CLINVAR:164070 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98a1ecac-c9dc-4b2e-9044-53a17d65ab5c CLINVAR:164070 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3653f57-0274-4d99-bec5-1cd709f6c17a CLINVAR:164379 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0243396-5642-4315-86db-26db3bfd3b38 CLINVAR:164379 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ec177cb-e64c-466e-85ef-eadd0306672e CLINVAR:177780 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd78c8d0-f8bf-4cde-9aea-eebc880cac4c CLINVAR:177780 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8755a83-4624-4a9c-b014-f9676178bba6 CLINVAR:132976 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e93d10d-4eb1-460c-8a79-0ae6324d0347 CLINVAR:132976 biolink:is_sequence_variant_of HGNC:7583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 491a9e93-98f9-4d57-b164-fc89a6690e40 CLINVAR:43479 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e2fad141-426c-4023-832d-43678625ab60 CLINVAR:43479 biolink:is_sequence_variant_of HGNC:7583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3f1d42a-2f2c-4845-b0e1-81672d794ed5 CLINVAR:43458 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 727ac337-a1f7-4516-816d-970f59653868 CLINVAR:43458 biolink:is_sequence_variant_of HGNC:7583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d62e736f-d512-4716-8dc6-faf132577074 CLINVAR:43124 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 305126c5-1dfa-4e89-abf4-fb2086673a63 CLINVAR:43124 biolink:is_sequence_variant_of HGNC:7584 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8969c6f4-635a-49cc-9212-e90392dcad60 CLINVAR:14062 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3e2f04f-14f6-415b-acc4-4fcfa1a47bdd CLINVAR:14062 biolink:is_sequence_variant_of HGNC:7584 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2573c8ee-54a7-49dc-b11a-2af92b4aaeff CLINVAR:14063 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2fc3186e-f463-4341-b8e1-d05a6eab3139 CLINVAR:14063 biolink:is_sequence_variant_of HGNC:7584 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c87278da-8007-4cc2-a99e-e3ab64437e64 CLINVAR:43389 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 708179db-4e3e-4ebd-b5bf-a0aaa7022771 CLINVAR:43389 biolink:is_sequence_variant_of HGNC:11947 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f650c6e0-c6d5-41dc-9a53-f59918ea434d CLINVAR:161396 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 891f0495-4b8f-4131-bf56-83f52705e662 CLINVAR:161396 biolink:is_sequence_variant_of HGNC:11947 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bb4a086-3f8e-4c09-9a0f-824ea008bca3 CLINVAR:43673 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a13d3a51-84b0-4a23-a2c8-9705d1201412 CLINVAR:43673 biolink:is_sequence_variant_of HGNC:11949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a7ec3f5-999d-4822-b632-0b5755910ccb CLINVAR:177636 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 489e3047-ed77-4d90-a6e4-dac28af0bd9a CLINVAR:177636 biolink:is_sequence_variant_of HGNC:11949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 593caeca-653c-4dbf-a610-bf8d8bc042ba CLINVAR:3328288 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2271a93-257b-4a7e-9d35-a0a7e6d20392 CLINVAR:3328288 biolink:is_sequence_variant_of HGNC:12010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1b08350-22d5-4b7a-a027-920f153154ab CLINVAR:43424 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9cf77113-9b60-4602-8296-9eec55dc0f8f CLINVAR:43424 biolink:is_sequence_variant_of HGNC:12010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fb8010d-309d-4073-a1e7-f621913374e4 CLINVAR:7888 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen adee732d-fa44-45f0-aa64-0395e1ada569 CLINVAR:7888 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96beb4f2-df31-4676-b078-8a9f5cfc66a6 CLINVAR:866421 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7ee0cac-9dbc-41dc-99e5-1cf7abdced21 CLINVAR:866421 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbad5a8f-326f-49a8-a3c2-bf6eb9906b08 CLINVAR:99035 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf1fbae0-2ed2-4952-ad02-2f0508c919b6 CLINVAR:99035 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d55d4eb-b81f-487a-82f6-6bc61a426294 CLINVAR:298228 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99a4c9d2-c832-4c67-b7a6-37c2d398da4a CLINVAR:298228 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72241f7c-2e69-46d9-a13f-8c07ba124706 CLINVAR:99108 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93e0d1ce-110c-46c7-b99c-5dd085fa012c CLINVAR:99108 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01d9d60c-fb1e-48b2-a635-c87bff062dba CLINVAR:7736 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8a2019e-2c00-4a4c-8fd0-7ef06d68578c CLINVAR:7736 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 709335cf-b134-4663-b093-7b13ae692ba5 CLINVAR:30224 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76c82860-2705-4462-a503-c4add9fc5114 CLINVAR:30224 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b7a14cd-b016-4d2a-ad82-96b5c7bae96e CLINVAR:7737 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38db5ab1-47b9-4716-91b7-e39b67655725 CLINVAR:7737 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00b4c4ba-0bad-4e13-a446-36d68ffe83d7 CLINVAR:3251815 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f650355-a6e3-4187-bd01-4c03f6e5ad6f CLINVAR:3251815 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a827defe-0bdb-4570-b8b8-bfa6ce6b4a68 CAID:CA346329774 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f481f5cc-1923-4686-8eac-162501beefb2 CAID:CA346329774 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 658d0ece-0512-43d4-997d-0e0538be4ffc CLINVAR:7730 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a33c00cf-9b9a-466a-84f6-9f7bad4c9053 CLINVAR:7730 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de866856-9299-4120-a4f3-7cbaf87d96b5 CLINVAR:2577219 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c6264e41-2d27-4f95-b017-99f80d44d054 CLINVAR:2577219 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1010eaa-5a43-422d-aa30-bdfc48c39d5f CLINVAR:813356 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe4820cd-668a-440a-a9f3-1de7f402bc11 CLINVAR:813356 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79c65b3a-d055-4969-9a36-0c4118e61fd1 CLINVAR:3586583 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9da9ed89-2aab-42d9-8917-4477abd77051 CLINVAR:3586583 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c7d2144-889f-4bb3-bc73-028315209560 CLINVAR:895383 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aba2b1ab-9650-4a2d-a70d-7d51d14b46ef CLINVAR:895383 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d787712-a7e4-4997-a41c-58ef520f4a36 CLINVAR:1329081 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5a8ca74-c2aa-46f4-96cf-1783167b62cf CLINVAR:1329081 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb81c5b6-b5ca-45a0-9e77-4ebcdfa041f5 CLINVAR:1120045 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bbf08736-a0ac-436f-a491-f3970eaf1bd6 CLINVAR:1120045 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e79f679-dc8d-4f0d-a7e3-443ba274ee5b CLINVAR:402578 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e9dfb1a-1a30-4813-8315-51e2c11dd926 CLINVAR:402578 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54966670-9971-4328-bf71-fe5b8566b7bc CLINVAR:1322184 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52d2f867-56c0-4406-9cd2-1182b96d8b1f CLINVAR:1322184 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9eef234-f108-4e44-b4b7-eb004ac083f9 CLINVAR:523943 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ac18087-861c-4765-a9b4-f694c8fb4b98 CLINVAR:523943 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7066f4f9-db0a-4544-8608-31c918f560b3 CLINVAR:1338800 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a1d40ff7-9382-4ded-a29c-126cf75cd31f CLINVAR:1338800 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fceee5e7-1440-4a5f-a56c-7cfcd2f32e8f CAID:CA346328519 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd3119e2-43dc-4cb3-a9ff-8a5d72dd720e CAID:CA346328519 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57537169-7b68-4c64-9031-404b241b441e CLINVAR:1335387 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ed5ca14-0efd-445b-a207-1d5fca420003 CLINVAR:1335387 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fada1382-20fe-458a-afdf-f2af4f50fef1 CLINVAR:68468 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 50f5e51a-3057-43d6-8253-81e8a34986ad CLINVAR:68468 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 802dd54b-d5bd-4f2e-b416-803e35dffec0 CAID:CA346328326 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8ffadde-0e0f-46ff-b4ae-3781d5a78410 CAID:CA346328326 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7af2a66-b66a-4b23-a099-7a2a8139d5d2 CLINVAR:632362 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8611d8c4-9e54-4afd-ba43-667d639472fe CLINVAR:632362 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a060fd8e-1b4d-4155-88a1-3859fe9f364a CLINVAR:2681127 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 55d1d1e7-b1fe-4671-a2f4-b9e43d3c6e8b CLINVAR:2681127 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1f83f8b-234c-4673-92a4-5d98e3978780 CAID:CA346327976 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0897089d-6466-4a93-a008-7dd7788e86cc CAID:CA346327976 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2b1299a-d594-46ba-8cbc-fc294c694be7 CLINVAR:1339135 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aaf75c97-7a14-4030-bc97-ed4a6c8f48b1 CLINVAR:1339135 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dee2972-5e7c-4330-8bfe-ae218f943c81 CLINVAR:1412564 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 205c68ec-8b47-4fe7-97f5-981eaede4ba2 CLINVAR:1412564 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ba6309a-4c69-4bf4-aa18-17c31ae2a44e CLINVAR:282564 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f833e512-2436-4c1d-8874-e4641ebcecdf CLINVAR:282564 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f5a5c55-7dbf-4449-9596-1c616d8a103e CLINVAR:1339668 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen decc85a7-2daf-45af-9d32-2283ee1f0411 CLINVAR:1339668 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edeeed78-6240-4b94-96cf-c4893a7c3b02 CLINVAR:7732 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 189360ec-0ce3-4c86-a7bb-5f3eb4b82f82 CLINVAR:7732 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e08f51f-4f0f-4150-b074-8ed5fe193949 CLINVAR:1489392 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc3758ca-b15f-4ba7-90d1-372860801cfe CLINVAR:1489392 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b4b6c5d-348f-4ea7-9ded-38fe31b434d9 CLINVAR:7739 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5672ab08-c1bd-4bf9-8c2b-51581ccd28e6 CLINVAR:7739 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dedac20d-8c0f-4d9d-9253-e1043020fae0 CAID:CA346327851 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80acd26a-d4cb-4182-ae2b-a7974cb77dde CAID:CA346327851 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b0f6f9f-1bf7-45bf-9f7d-d1a7ab2d571b CLINVAR:7734 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2fe0222a-cc12-4e3d-a9bf-e0f133114f62 CLINVAR:7734 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b62ed08-c6fb-40a8-b799-136647806bf1 CLINVAR:7735 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ca41a6c-78cb-4321-be76-99dd58b6c4e2 CLINVAR:7735 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91807ea1-97af-49d3-b4a8-679dad6a0b87 CLINVAR:2203048 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 442eee7b-a0e9-4327-9815-00c9f1b9ae5f CLINVAR:2203048 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 952827a3-00fa-4aaa-865a-e5dc32f5881f CLINVAR:335952 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7cf64351-bebd-4d3c-bb4b-8003f5b9c48a CLINVAR:335952 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86d3f67f-59a7-4622-8c31-7090726bd613 CLINVAR:592512 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34b50051-7427-440e-9602-a33599d700f7 CLINVAR:592512 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68e53a71-37f5-4f9a-84a8-235ad830aec8 CLINVAR:1331361 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd9f7f84-129e-4669-9758-71fb7e581147 CLINVAR:1331361 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91902fde-4b9f-4af1-a124-6e386218f5dd CLINVAR:68466 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 319aa2b3-95d6-4f9d-8d67-568c4d9ef738 CLINVAR:68466 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7035a3f3-d8d4-4021-99f8-5f9fed6fa8dc CLINVAR:1254629 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f279f06-6f00-4a02-99b1-6d679c8aa336 CLINVAR:1254629 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c83ba61f-19d5-4015-9340-eaa0193028f9 CLINVAR:845455 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76d3094d-1ab3-402f-b2a6-992c3d08c060 CLINVAR:845455 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d81d9a3-9c01-46ce-bda0-65c8f3a992a2 CLINVAR:7733 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 12bf390b-c116-491f-983d-d3b1e78df75b CLINVAR:7733 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a57a9a4f-0ff2-4f2f-97d0-f88dca8f21f9 CLINVAR:96699 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b8a0c970-a2ac-4f88-b938-f56ffcb7d776 CLINVAR:96699 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de33a29a-0306-41be-9255-38b7e57674c5 CAID:CA346327121 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7ef95e3-9a8c-4674-97e4-b8a3de2d4860 CAID:CA346327121 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49311e58-85f1-4f73-bf68-bd6a7c1dea95 CLINVAR:813355 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 740e5997-0e52-4226-bb49-2cc8b600a503 CLINVAR:813355 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c0cf0da-e65d-40a5-90aa-3088b65c9f91 CAID:CA346326874 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ddf3a1d-8b53-4cf1-ba88-5dc32b76fa90 CAID:CA346326874 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e53b8eb4-eac6-43c2-80aa-9f210f7d37b3 CAID:CA2580610860 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45bf806b-271f-4f0b-94e5-fbf719eb7300 CAID:CA2580610860 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d7a79e3-399a-438b-bdbc-0e9287096bc4 CLINVAR:3777763 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 500f32ac-9993-4369-a9ac-c75f827dd881 CLINVAR:3777763 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f77dd3dc-2603-46e5-b46a-9747871f4722 CLINVAR:68682 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ba789d7-1b9d-4efc-958a-9751119b07d5 CLINVAR:68682 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be37fbbb-87bb-436e-af80-393d6b78d9f7 CLINVAR:976230 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6819983d-fa6a-4552-a1f3-a1616c081ebe CLINVAR:976230 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9c109b4-5d25-4450-9dae-1cff572a35c1 CLINVAR:1339536 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 246ed64c-c14d-413b-a59d-71fc303f2a53 CLINVAR:1339536 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b4cf021-ad5d-42d6-874f-15069034a140 CLINVAR:572507 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab664cb7-d25a-48e6-9e0d-c70093044c64 CLINVAR:572507 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec4cf22c-7f7e-4e98-ab35-481cf2c3b3a5 CLINVAR:191196 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88477e75-c314-4c25-9296-574d2ac9ba70 CLINVAR:191196 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b73a9c6f-3dd9-4437-9bed-4bbbb63888fa CLINVAR:1693469 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f505e4f8-ca27-480b-95ae-41a09a0d4600 CLINVAR:1693469 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32b45e51-1f0c-45e2-9b47-d316c9736bee CLINVAR:3251745 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e76bfa3-8696-458f-9dff-b5ddad6e3d2f CLINVAR:3251745 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91407457-9885-4f34-83d4-c3015cb61b71 CLINVAR:872164 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d801d4f3-c08e-4cfa-8ba3-203545d2caed CLINVAR:872164 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cd67fe1-6c8b-4285-b05a-5d8bb683cb59 CLINVAR:1453759 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7086e2e5-776d-4203-ba3a-9c2bf4fd3deb CLINVAR:1453759 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0af5f8b1-d348-45cb-81cc-df078284e404 CLINVAR:68260 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 50a665b0-50b0-484a-8375-37941f1d067c CLINVAR:68260 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 236b1b1f-3536-44fb-8d61-475a4ba4842c CLINVAR:555264 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen baca20b3-e3b8-4c69-8d98-4eb4a7c94eec CLINVAR:555264 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen deecdfef-59d1-45ac-949c-c3abe11b3cce CLINVAR:36386 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2718a3de-d0c4-4973-8635-c134ee38a7c1 CLINVAR:36386 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38915e63-1934-47bb-9e3c-3440dd0ba8af CAID:CA386960044 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d9b6fb88-c4f1-4954-9da2-68a2ca20fc2d CAID:CA386960044 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e188505-b688-4519-a7e2-3223fe11426a CLINVAR:693061 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen efa0f5a4-bb96-4aa2-9145-fff0a15a5e00 CLINVAR:693061 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 741262f6-3f02-4300-935c-d37e4710c7de CLINVAR:417982 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4dbacd01-0714-4955-b929-567ad4a43575 CLINVAR:417982 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dede3095-ab49-4c41-8901-efce01c162b8 CLINVAR:298229 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b77890de-2ed6-489a-8d2b-389dffac280e CLINVAR:298229 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58fd54af-2230-46eb-92a9-6b2a69f2758b CLINVAR:932889 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed60ab96-5bf9-429a-ace5-5d32d6bbe5ea CLINVAR:932889 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58d14886-f5c4-41a1-a024-99d71123cc5b CLINVAR:761732 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c50ecf42-4e72-4a5d-9de1-53e77d31be78 CLINVAR:761732 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba3b2d7e-4bb9-469c-80da-d1679044dd4f CLINVAR:1481089 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aedbbdd7-06f4-42c0-9343-defb008c250e CLINVAR:1481089 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 261960c4-c3a1-44b0-8a6f-21fc6c4318fc CLINVAR:99430 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f96b0f67-4135-400f-bddf-08d706c6aa4b CLINVAR:99430 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c263fef-554f-4c1a-96fc-6d67fe5c125f CLINVAR:289310 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8032c06d-142c-4ca7-9d0a-244870c43baa CLINVAR:289310 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81650a79-1dc4-43fc-b39f-c513dd3af2da CLINVAR:99403 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 401ca8d0-7814-4e4c-a052-dbda0c1f3b6f CLINVAR:99403 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80913c18-6d66-4755-86a0-c041b4a6caf1 CLINVAR:21013 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c21f1fb-58b7-49b4-aaed-61443e3477b7 CLINVAR:21013 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe263eea-96a2-4438-9f73-fcf0c43458ab CLINVAR:3384229 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b913f35c-61cd-4b6f-8a3f-b5593bbffe3a CLINVAR:3384229 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae5f5592-5893-40c3-bf67-0b7c5070d768 CLINVAR:1337790 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9e421cb-36f7-4ce8-b53d-9900aa971884 CLINVAR:1337790 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ac28210-b328-4aaf-8c72-00c0c3314179 CAID:CA367401432 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e285aa24-d938-480d-b2d1-8c12da5d8e74 CAID:CA367401432 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe8d111a-0f04-43bb-90b0-1ce50ce3d55a CLINVAR:265174 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6868846-cbd2-4254-b6f8-4edaf2643268 CLINVAR:265174 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c87fdc3-9eda-494e-ac7d-0bcc00d8e666 CAID:CA367401650 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a7dfc191-ce99-4562-b8d2-560698d1eb37 CAID:CA367401650 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66ff7e90-da26-4a6c-b765-92ca254b2805 CAID:CA367400605 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 107ccfb7-31b3-4741-8b82-057975b97168 CAID:CA367400605 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0502e622-175d-4585-a645-cda4f39d8f56 CLINVAR:2735005 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1ce06ae-0f89-418b-b574-ee7dd87729f2 CLINVAR:2735005 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 584bbaa5-3384-47ef-832e-72b473788991 CLINVAR:3720739 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d442ef47-c81c-48b8-bc1d-d79bf1d08b24 CLINVAR:3720739 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf4ac795-48b1-49cf-9789-f0a968e6d06e CLINVAR:804861 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15c1ee24-a566-4b72-9c7d-bcd2d1844060 CLINVAR:804861 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9909875b-0f25-43bf-80a3-788b66dc3d57 CLINVAR:1700683 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d30a3c0-4912-4c54-a894-f9105f74bb6c CLINVAR:1700683 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a295a523-d419-4b7e-b889-ba3cb0208857 CLINVAR:2137411 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4955968-486e-46e9-937e-5b5def48c8da CLINVAR:2137411 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af0d8f05-578c-49ec-b4e7-953a6a5ca223 CLINVAR:2137408 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 016dec0c-8f0b-4477-967b-bc1b06f865b5 CLINVAR:2137408 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83234f75-8710-48a9-9266-7be438e81185 CLINVAR:102827 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b7ef8d02-a7b6-4b67-a609-af68b2bd5fc5 CLINVAR:102827 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b987acd7-25e3-449e-be38-3bc5cd8346b3 CAID:CA16020809 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a150dda-844e-479d-b361-be61a8b89c11 CAID:CA16020809 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0979c087-a6cd-4a56-b458-0923fad634d8 CLINVAR:102497 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b9fb1c31-8b64-49e5-9b5a-e31f002e6625 CLINVAR:102497 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 461eb1ef-7bf3-4031-8877-98ef0f694f77 CLINVAR:102797 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0327025-7e94-45ee-ad54-deda4e678369 CLINVAR:102797 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b453eca-d64c-40c3-846a-170903fb0764 CLINVAR:102799 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36b7ec26-7175-46cb-bc0a-18858d5cfe0e CLINVAR:102799 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42ab1cc8-3a5e-4924-ab0b-249ac5e19fda CLINVAR:102732 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cbf23f9f-3a32-42ba-b520-a5c6e8bfabe1 CLINVAR:102732 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a668625-c1ae-4845-bc53-62071c5fbbc3 CLINVAR:1711524 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0019eec-477c-4222-8442-16cc8421d54c CLINVAR:1711524 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 490a944f-1e63-49fa-aad1-54da303d8c10 CLINVAR:2203245 biolink:genetically_associated_with MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84980e62-2001-43d8-91c7-c2e0eaa356c1 CLINVAR:2203245 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca1437bf-9764-4667-a715-32a8c6727853 CLINVAR:623475 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d972ece9-8843-4f78-a7cd-a6a96cac5e71 CLINVAR:623475 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67d3475b-1dd5-4bd3-b3db-afc9580121f1 CAID:CA350138800 biolink:genetically_associated_with MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78d90658-8c15-4768-86b0-df49408a10ae CAID:CA350138800 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76473e37-3494-4d4b-9e4e-a2ce45111dca CAID:CA350138732 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d3967fb-2650-4364-92d7-423c3e1bbfbc CAID:CA350138732 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cb4fba0-c0c6-43b0-9c17-85442bd0b481 CAID:CA350138731 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1fc8e5f7-0dcc-4e77-bfbf-84fb86b956ae CAID:CA350138731 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92b1313a-7d2d-4ffb-931b-ff05f206928e CAID:CA350138990 biolink:genetically_associated_with MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2a1e8e0-b2d0-4ff4-a650-26ce416b2c63 CAID:CA350138990 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b9a7863-7b51-4483-915c-d026d6391315 CLINVAR:542070 biolink:genetically_associated_with MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f69b1301-713e-496d-80af-7706d5972418 CLINVAR:542070 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7428bb50-d08c-4288-a832-9c70ad870d55 CLINVAR:827701 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1176aca5-4709-4115-93fd-ea45e463d5e2 CLINVAR:827701 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe1a3891-7f8a-4bf7-b260-4d97e58fc281 CAID:CA350139018 biolink:genetically_associated_with MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b6d4fa2-b1b5-485b-a7b8-7e4622c3fff9 CAID:CA350139018 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ab7ee90-d28b-424f-ac4e-2d872773c9ce CLINVAR:636389 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a89e8057-e04d-486e-870a-9fc1185ea4fc CLINVAR:636389 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43387749-eaeb-407a-bc05-f4260ea017ef CLINVAR:1439020 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a4f74da5-0379-4fee-85a8-f6d1fb130176 CLINVAR:1439020 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e182b23-04f8-478f-9426-9de39174dec4 CLINVAR:161109 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d25bc55-1b85-4170-bf38-98cb71c63be2 CLINVAR:161109 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac66f413-3796-456f-8696-27b123ad9dff CLINVAR:161112 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52bca1bb-7aba-478b-90e1-ad6ddd34d573 CLINVAR:161112 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a75a0d6-0701-4bfe-867c-040ea11addec CLINVAR:161110 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 951bd086-b343-4d15-85cb-1e12b45ae991 CLINVAR:161110 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dff5d6f3-fb84-43e7-b238-3bc031abff5f CLINVAR:432079 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69e92761-153f-4dd0-9e69-66ea59a6eb59 CLINVAR:432079 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95d807c7-d1c3-4859-8920-d0f454daaef2 CLINVAR:945024 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d722e9ae-859a-48d2-bace-80ab44276f9d CLINVAR:945024 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e73f9475-b180-4b76-b0b6-0b0b36aaaed0 CLINVAR:644629 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58a9a28e-7fac-497d-a070-fbae8f1b8bf1 CLINVAR:644629 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 671dd747-c628-4aa7-8b11-d45831737244 CAID:CA2573320363 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 835e5baa-ac8c-45ba-b8d0-e1dc1cbe3637 CAID:CA2573320363 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7932182f-a7af-4fb5-a9d0-7c7935ed947b CAID:CA2573320362 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8f03dcd1-7b9d-46d1-97b8-bc1a41aaf6cd CAID:CA2573320362 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31b11b85-ce6c-4db5-802c-2f4010dd6e03 CLINVAR:304 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d2a1d1ac-c13a-4bd6-8a58-be08d51de56a CLINVAR:304 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d611595-f2a8-4e46-8372-9a32bb2c5eec CLINVAR:100323 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 792f3623-20b0-4c21-ace7-cc4560bdec17 CLINVAR:100323 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b665843-0fa6-4012-971d-93bbc52a963e CLINVAR:551306 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f368b07c-0cca-40ef-920b-3c9055f0e1c8 CLINVAR:551306 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 581a7fc6-9f6b-4b03-9862-8d3ea8176560 CLINVAR:1322967 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ea1a89ef-6e98-47a9-839f-fc414e910ac0 CLINVAR:1322967 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bd4d019-0a8e-42c0-9a5b-b7b01a4ef125 CLINVAR:1322949 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9f4cada-a00a-4d4f-ae4e-0926d9ea95d1 CLINVAR:1322949 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acb0d574-e711-4343-9b5f-b00f176c2f55 CLINVAR:972744 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 897506fb-c9ab-4dc5-be88-3a80555f7039 CLINVAR:972744 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b0cdc57-66a2-41ba-afdb-4291b1f848e4 CLINVAR:456434 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d6bf955-180f-4343-b2a6-0b7280598cec CLINVAR:456434 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a7bca96-6fa0-4860-b3dd-93bfcfb4b86a CLINVAR:1034639 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac916cb5-8c3d-454f-b013-a20d8ca28365 CLINVAR:1034639 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 632a843d-44c5-400d-b3cf-14d18fb84262 CLINVAR:2506145 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02a54eb1-18ac-4fa9-b81e-a07c46074303 CLINVAR:2506145 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 589a5c51-5136-4ddc-8918-a00f45c68f4c CLINVAR:3235260 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5648782d-2020-44ad-bbad-7ae56a712bf9 CLINVAR:3235260 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 437144a2-3ae1-4218-a3c5-bef964425b18 CLINVAR:938008 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59e7903a-9d0e-4f9c-b653-cf28bd9cd009 CLINVAR:938008 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaed8d15-94c9-4805-80dc-75830209e3dc CLINVAR:2138117 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27417721-25e1-40c1-8cfe-fe3419d7c32b CLINVAR:2138117 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4f5428f-1c28-4386-8f9a-273d2bddc4da CLINVAR:1972115 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 472e351e-7394-4535-b48d-beb7c218884d CLINVAR:1972115 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 020131e2-4ae7-4e3a-801f-7528d3324f16 CLINVAR:1945670 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0810db47-4215-4a08-a12d-9ccbad16e53b CLINVAR:1945670 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ace2b39d-8019-4de2-855b-180f0b0cc64d CLINVAR:439019 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f12f5e21-4a86-4482-9fff-357fa35e8492 CLINVAR:439019 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4533daa-be45-479f-a3c2-c4277b915d03 CLINVAR:55718 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65bf397b-a048-4a45-a5ea-b079b8dc50e0 CLINVAR:55718 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f83045b5-2eff-4455-bab1-a792a5667d98 CLINVAR:55415 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7eeaeff1-f6a5-486b-9dd3-c9d9fbdc4157 CLINVAR:55415 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6597e392-cb24-4351-bf01-835efc6ef2c8 CLINVAR:491098 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0034c98-54ec-4c23-ada7-9ff5221c9d95 CLINVAR:491098 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72fb062d-6aa7-4793-82f3-8b6eda0fb70f CLINVAR:52568 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93c6d67e-189a-4d49-8013-70532a03b47d CLINVAR:52568 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a34015c6-c981-4a8e-993c-1015400f753a CLINVAR:55573 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce9615d0-d158-47c4-b1b5-2ed09ffa8b7d CLINVAR:55573 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c557d688-0268-4a38-8248-2605a58b80d3 CLINVAR:489785 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29c4ba4b-01e9-449b-9188-02cce4250934 CLINVAR:489785 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3d11835-54fc-4144-a273-053b41521ff5 CLINVAR:52400 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 885caf7b-6eb3-44f2-b787-7fb341ca471d CLINVAR:52400 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56a5eecf-af32-4e8b-aeb0-90e5b84d39e9 CLINVAR:55505 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae09baa3-e64a-4f99-9b5e-280ffd703dd7 CLINVAR:55505 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d18d8c2-8883-4e1d-bd53-2c2da1ee0f4f CLINVAR:55412 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cae71c79-8729-46ba-827b-694e5072950d CLINVAR:55412 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b18eae3-f504-4570-b84b-b4eb3a55fbf9 CLINVAR:489784 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15b29f91-ead8-42b9-82ed-bf209a20bce1 CLINVAR:489784 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22bd5fd2-887e-480a-8bed-f9b68f07409f CLINVAR:55552 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dfcc2d70-6c7c-4e53-8732-6a69fee42c9a CLINVAR:55552 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98b7a5ad-892e-40a3-a10e-0e767ebe470f CLINVAR:91649 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6935e17a-2053-4e09-a587-d75e612fe066 CLINVAR:91649 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fc0ddc4-2d6b-4f33-9fb6-3aa8c2e90355 CLINVAR:232915 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 052380ad-5837-4fb0-921c-13bd116dce33 CLINVAR:232915 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d95c1b60-3a87-4a47-ae34-75539ccd1fc5 CLINVAR:491071 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94dacdf6-03fd-464d-bc71-be3e46a3141c CLINVAR:491071 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9d703cf-3487-4741-875b-6487079e1446 CLINVAR:418671 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d2644b08-e37d-45f7-bf70-0e964c74541d CLINVAR:418671 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3e3269f-a64d-47df-9647-6b15ae1f2df8 CLINVAR:627968 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa3b12ca-fc04-49e6-9073-83e43b0a22d8 CLINVAR:627968 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d08fbb98-3437-42ab-89e6-a24a3bbec22e CLINVAR:245973 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a51c8b4d-47d9-4c8c-95ff-5da1537d2f34 CLINVAR:245973 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2004e62-44c3-419d-9dbc-fa22ea9d4f65 CLINVAR:409564 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ad8374c9-c322-46f2-b6bd-4aed0afc6aef CLINVAR:409564 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d6ade69-4e9a-46bd-9b51-521456fbcf74 CLINVAR:185084 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ab1793e-5264-4a7b-b502-084fa7216291 CLINVAR:185084 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd13addf-f244-44bd-aab3-524ccc6116d3 CLINVAR:419217 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0931ea6e-f1fe-4eb3-bd06-e40f44ddd7d4 CLINVAR:419217 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92c87a56-3287-4700-931e-f6257fdc27f8 CLINVAR:96859 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 077675f7-1b97-4a91-9acc-2a100c6db69e CLINVAR:96859 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bf68b5c-2cc5-4f1e-8e9d-bc1bb4efda08 CLINVAR:232537 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e3c421a-b9e9-4461-8c11-da42a1d1087c CLINVAR:232537 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5e32a85-d88a-4d82-9098-da26e221d102 CLINVAR:52780 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4d1b5fe-8607-4eee-879d-bf8e7b185376 CLINVAR:52780 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f88bc91-6d58-487e-82f6-6e9215680437 CLINVAR:96944 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14b9747f-656e-4fc8-b1ee-4a313311f77c CLINVAR:96944 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2611ad66-472e-4fcb-911e-8753b2a1bcc5 CLINVAR:1685834 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5dfb092b-22b8-4af7-a4b3-5eb1f30287b4 CLINVAR:1685834 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bddb1e23-5d78-4d9f-9969-c6bbea3a3b5a CLINVAR:142624 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb8fe535-f891-4343-82f9-bfeac6dab182 CLINVAR:142624 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2ad94c8-803e-4fa2-9493-c3f719273505 CLINVAR:843641 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be59c762-8545-44ea-a57d-b23444873576 CLINVAR:843641 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d11bf5a-6ed2-4e56-bc16-9badec225acf CLINVAR:188060 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab7c8d15-87aa-4827-b7fb-f3d534bc54b6 CLINVAR:188060 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9eca54b-8dc0-4ce5-a064-9fe0c347ea5d CLINVAR:376631 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25607e1b-ba2e-4a8b-838f-ed9fd8a573ef CLINVAR:376631 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0e2b74d-dab1-4801-90a5-16ed3a203824 CLINVAR:458520 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d17f20d4-0352-4064-89b3-432beae32156 CLINVAR:458520 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f05b1cc2-b1ff-42db-b0c6-ffc7b8d3f13a CLINVAR:2432729 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 616fed2b-3e8e-4ed4-8ef0-ddb48fb95c93 CLINVAR:2432729 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 879a425c-a2d7-495b-add6-bc1c222a63a9 CLINVAR:856299 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30ae2341-117f-4d51-8c10-42356643ee2a CLINVAR:856299 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56733203-a8de-45bc-8028-7cf8a927ca23 CLINVAR:1759844 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1228142d-b665-4018-b7a4-01442c252790 CLINVAR:1759844 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 454f7c2d-9f38-4912-b6ca-179b4e8292e7 CLINVAR:428888 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b16e6225-ec95-465f-992f-5e5712657f78 CLINVAR:428888 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc7f447b-3a7f-4df0-8e21-75133a1c3911 CLINVAR:3147976 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f611311-9d8a-4014-9075-62eee0b5b90b CLINVAR:3147976 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5edbd9bd-78c7-49db-9056-71dd4acd1db4 CLINVAR:492752 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07b6f594-2697-4181-bd60-8d21bc7cea0d CLINVAR:492752 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 770e04ef-de0c-4b10-a9d5-e6da6d274cd1 CLINVAR:481015 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4564da32-0de2-4013-8fc1-229be61c52d5 CLINVAR:481015 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e17f988c-a3e2-4107-a147-ed1d351de764 CLINVAR:376680 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8bd246e5-c815-465e-9332-d655bbbd672f CLINVAR:376680 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4267306f-10ac-4a5a-95ae-1190fdb04243 CLINVAR:216467 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad7d01ee-9558-464a-81a7-7de3fdfe5f86 CLINVAR:216467 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0950810d-6637-49a7-bd28-f0eeb9b6d668 CLINVAR:2757236 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6cae3d5a-f280-4187-afbc-09d74c2c852a CLINVAR:2757236 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89687461-84db-485f-99cf-c8a96b8a8255 CLINVAR:528248 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 979808b8-597d-4fd8-9db0-c14e26cda486 CLINVAR:528248 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8b09a8f-4d80-4f49-9683-79f7d96c990b CLINVAR:246118 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2987e8cc-692f-41cb-a38a-c14273ad1289 CLINVAR:246118 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 390f029b-12a3-4870-959e-5d3c5bbe1979 CLINVAR:2697350 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 51959dc8-65bf-4d9e-bcc5-33b5858f58b2 CLINVAR:2697350 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d994682d-8162-48c4-826e-d5d2e7424d0f CAID:CA2497028965 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8bffbb52-8cd9-4f4b-abdc-c1a609b48bc0 CAID:CA2497028965 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72cdbf4f-f323-4301-aa0f-b8cc1256ea37 CLINVAR:376630 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen abc72b70-209d-41ef-aa5e-963498cae181 CLINVAR:376630 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95207a61-f903-452e-bab4-d837bca445d1 CLINVAR:10167 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a7a0789a-c52e-49d7-b7b7-d681f3a1a24e CLINVAR:10167 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa053c2d-2eab-40fd-a747-da8805e9f237 CLINVAR:3338831 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1103e106-a0c3-499a-8dba-d60d51de8767 CLINVAR:3338831 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65f7732c-b7d2-4e9c-bfc7-5b99752daa07 CAID:CA414919991 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 946fdbdb-aa6b-472c-bb63-730aa1b6c711 CAID:CA414919991 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8eda1243-c83f-4608-a29f-db25ea6e9e3e CLINVAR:3380944 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e43e259-9d53-4bb7-a46c-04bc8ca3e2ca CLINVAR:3380944 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f20d7cb1-9049-4957-92b1-a94f29bf119d CLINVAR:1458768 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92543dfc-87a6-4351-ab82-087b31610624 CLINVAR:1458768 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b756d539-74ff-46de-a5ef-d987e8da2fb8 CAID:CA355945475 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4f8106d-ca99-4a76-994f-a9abf070b390 CAID:CA355945475 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb046dc6-42e2-4804-8b11-9251761ca1e1 CLINVAR:2432733 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99488515-4644-4366-83ea-7fcda36a4317 CLINVAR:2432733 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab610d4a-c52b-41d2-8732-6ca129f229ef CLINVAR:281005 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 429724d1-8356-4ece-8fc2-dcc8016b6c8d CLINVAR:281005 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82e2c1fa-9d6c-403d-a79a-31517ee4cae8 CLINVAR:1068474 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9681a18c-43ea-406c-a662-bfc764d217ad CLINVAR:1068474 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14ea9f27-4718-429b-b921-c25c3209af5f CLINVAR:1204494 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 631c376e-dd90-4f88-9d50-5043762cd8fe CLINVAR:1204494 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c547a8a-e526-4dbc-a37b-7a3a0197fb13 CAID:CA355962280 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7949608b-8359-442f-b6c1-e752b33eda1d CAID:CA355962280 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f652d7a9-6473-4e29-a0c8-f143d8674dfa CAID:CA355962278 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d40ae67-585a-43d2-a4db-2c09fea9df4c CAID:CA355962278 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 703f967d-99e0-4337-abd8-373fb6510235 CLINVAR:198406 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dcf558d6-c712-4ccd-8f00-c9e2c322a34d CLINVAR:198406 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3bd7b68-e556-4669-bd53-fd175185af8b CLINVAR:198696 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77d1322c-737e-4ded-8381-d248a7a74366 CLINVAR:198696 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ff0d5b9-cc55-43e8-9a6f-a601bdfae523 CLINVAR:565486 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b64b7284-bb35-4963-8860-5ca4bf7fc2ae CLINVAR:565486 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dd8845d-20c9-4143-bca9-d0940fd6cb13 CLINVAR:580378 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f0363d24-9efa-458c-96ea-9a2c145042c3 CLINVAR:580378 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ca57a2e-dab0-4b99-b2c6-4ab2c0033195 CLINVAR:632970 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 178cc4e9-07b4-4903-954f-be86e41ca4c4 CLINVAR:632970 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb9bac80-075f-4748-b11d-7868c8cb92d1 CLINVAR:633393 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae4ec982-2690-4468-bf0f-937d8eb93a03 CLINVAR:633393 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a6c0b77-2462-4586-8d14-b98e050d729d CLINVAR:928882 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 62d8b4f2-e484-4606-9bf8-4018edaf6315 CLINVAR:928882 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39602ac8-2c51-4425-b349-2d702a08d6e6 CLINVAR:379208 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1546535f-13a4-4b43-9cfc-07f46ee61117 CLINVAR:379208 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29ece4bf-8e5a-4e25-adac-6dad1fce5f01 CLINVAR:4475856 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e2b5fb42-abf7-4987-abb8-2a8e35c41631 CLINVAR:4475856 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0ae1ef8-e0c6-42c3-9989-bc71425d2709 CAID:CA415256306 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb5d24c6-9807-429c-a8cc-813ec6e92d32 CAID:CA415256306 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41b33711-a494-4a29-a0d3-35aa01d29198 CLINVAR:281932 biolink:genetically_associated_with MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e71d204b-b8e1-48d3-93b6-fefe55d45ff6 CLINVAR:281932 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ed32fc8-9307-4b22-9e42-30f264dea0ba CLINVAR:14221 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31834eec-a032-4f7d-95a3-bde0a0e2ea5e CLINVAR:14221 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a24fe1e3-1942-4825-bbc4-bc11288d02ce CLINVAR:660541 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dca411ef-0184-48c5-aea8-fcc59a3dd0ac CLINVAR:660541 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 714b42f6-b4cb-4457-bd51-9f320253a42b CAID:CA405671576 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f592e9da-a18b-47bd-91a9-b8febd9f6dce CAID:CA405671576 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b18d7bf5-3340-445b-b5cb-e60997fa7452 CLINVAR:487451 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 08f436dc-a77c-4b00-9e34-2550d9df8f4a CLINVAR:487451 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09b8a17b-e1c9-4e61-b102-80a6768b090a CLINVAR:1072425 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 16a8bb0f-05ac-4658-8c35-e6b04c9d19a3 CLINVAR:1072425 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5be9c550-3924-446f-b3fa-8d76a30ac201 CLINVAR:982438 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 81ddba04-1f50-4057-b5f1-27860c72d5aa CLINVAR:982438 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4fbf43d-86ea-45a6-ba10-2109939c2c00 CLINVAR:575986 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d68f5e10-296c-4fde-bef2-d19502ce4f55 CLINVAR:575986 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9ae16f5-f9e1-4e84-b8fe-8cc57b7dafef CLINVAR:133206 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c128cc2d-40b5-430b-bef5-e43c60f2b46a CLINVAR:133206 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82843c54-a1dc-4570-a057-cad7c5ad62d4 CLINVAR:13534 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 920137ce-c8fe-46cc-8896-3111d7f774ea CLINVAR:13534 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a44d92f0-6f5f-4bdd-a28a-c0560e4ce129 CAID:CA402997251 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21b11ecf-4dec-421b-ac69-bc5072265e36 CAID:CA402997251 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d38c20bf-b340-4180-aed9-a8cd9521eec9 CLINVAR:801415 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ec744486-d840-4d2a-9f4d-1334e240d12e CLINVAR:801415 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 932f3359-7c89-488b-89d2-e6536974d073 CAID:CA402995747 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0c19c144-5ade-4622-a6f6-a6fc73508bd2 CAID:CA402995747 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29865db7-0adc-4402-9c48-56724b6b1b90 CAID:CA631044777 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 42dad524-14b5-4380-b417-786c0d46aeda CAID:CA631044777 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48aa93a3-23a9-4b03-8c92-3c2c9e1588c1 CAID:CA402995509 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af4bb1e7-c7a4-48e1-8e97-7768c87eb26d CAID:CA402995509 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fc06aea-62cc-43eb-9e0a-3ab4d0d90827 CLINVAR:2503890 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0bdfbbc-902c-40e1-92a2-ff5ce597ad60 CLINVAR:2503890 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3072cf6c-de14-4957-8045-28fddde2e871 CLINVAR:1098275 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b0446768-133c-412e-abc1-c22a60522f6a CLINVAR:1098275 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16096147-be15-48d5-b247-a6278385cc46 CLINVAR:1098274 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0bee32f2-cc80-4a0e-8115-acd4e25b53e3 CLINVAR:1098274 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be85426d-3987-4194-832d-665ef28536d6 CAID:CA354447298 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 164095fe-004c-4b21-b165-2f72301c73fc CAID:CA354447298 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 316c2780-3cde-4a55-9cef-16dc5f972ccc CAID:CA397313655 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0434705a-ceb5-4ad3-8005-2f89de038029 CAID:CA397313655 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4591ee96-ede2-45de-9598-46a2a90b0213 CAID:CA2573320224 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5355289a-5528-459e-88bf-dc4ece979c8e CAID:CA2573320224 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b794e59d-d75f-4708-834f-12623595b576 CAID:CA397315380 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 222f73a0-0220-4f86-8e2e-126fecf1f82f CAID:CA397315380 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03fcf609-e585-47dd-b860-658b7ddaa25c CLINVAR:3251816 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99049b57-0385-40ba-8972-ce31f78fa714 CLINVAR:3251816 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bcb26de-edb0-43f7-9ab0-d4435a348410 CLINVAR:3582323 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a4fdad6a-a1fb-47c4-aa92-53e807ce7e7b CLINVAR:3582323 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffecb6bb-c112-424a-a74a-9686cb770923 CAID:CA397319681 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 25ef6ecb-0343-4011-8a25-cf14db48013c CAID:CA397319681 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 141f4477-91b2-4f82-89bf-952655477d06 CAID:CA658820740 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c1c01e6b-b420-41de-b8f2-2d14a351a277 CAID:CA658820740 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91fef9cb-c9a0-414f-8365-af87a7ae7bc6 CAID:CA397321949 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77bf749a-0ff3-43d5-be69-ade3fba25771 CAID:CA397321949 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdddbc30-1d04-4481-9c33-b72596eed739 CLINVAR:2736608 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f68c65e6-df41-4b16-bde2-b83c7d8c6089 CLINVAR:2736608 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b963656e-e363-40cf-9932-b364f9ad30e1 CLINVAR:972760 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc648a4d-b8b4-40e3-a3a4-748e4aab51b8 CLINVAR:972760 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20022642-1419-433c-80af-781d6d7e4e66 CLINVAR:662598 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a5ffb67-0dcf-48b9-a024-787672d9459f CLINVAR:662598 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fc7e203-470d-4ca7-87aa-d059890e6491 CLINVAR:370998 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a75a91d3-cbcc-4fc8-b717-0ceb9fc10a8a CLINVAR:370998 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76c39b40-921c-45ad-be93-481d3ab499df CAID:CA2602634 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 957997aa-2802-4a8b-b720-f16fc5050c91 CAID:CA2602634 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38f26a8c-2098-453b-bcc0-a7bfa02a31af CLINVAR:13532 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ed9e3d0-0e1c-4603-a019-fa9908209715 CLINVAR:13532 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 788bc748-60d0-440b-be99-660b2412baf9 CLINVAR:522924 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd4d12b2-e8c7-4b5e-89e8-c5f318263fe5 CLINVAR:522924 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff4ef125-e4fb-4db3-8215-b98fe8f93608 CLINVAR:523396 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a83d513c-0d55-4ef6-b203-1e4fa77c13b2 CLINVAR:523396 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df8c051f-d4cd-416f-be99-bc5309f8734b CLINVAR:624624 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13025c1e-a268-4f52-9f34-ae8d36f4efb5 CLINVAR:624624 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81dfc540-5d26-43cd-9947-2c99fa5e1130 CLINVAR:691254 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 354e2f85-bab6-49ac-ac47-b4a9c5c738e7 CLINVAR:691254 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b1abaf4-10fe-4832-8a78-1d8f05949c4c CLINVAR:373333 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 076dae79-da1a-4cb9-ad96-3d259b62e3f1 CLINVAR:373333 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc5d048a-999d-457a-a30f-87d1699cfbea CLINVAR:489373 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9897822-ca24-4d75-9b86-80b4fe033183 CLINVAR:489373 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0dfe004-a469-41fc-99b9-c7208e032411 CLINVAR:1049951 biolink:genetically_associated_with MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2608fc9d-57cf-4f27-8347-2819b1fbd650 CLINVAR:1049951 biolink:is_sequence_variant_of HGNC:10590 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42cce493-d442-4e1a-9c79-79a2a76a8288 CLINVAR:536549 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8380f4f0-b58b-420c-b8e8-dd17e92675b2 CLINVAR:536549 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 920a2067-57d2-43d9-86ea-9cc8577cde4d CLINVAR:1043063 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 763a6fd5-56a8-442e-b176-05c40adee900 CLINVAR:1043063 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36d86144-4526-45be-a623-8ef53467ca9f CLINVAR:495806 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4627526d-4f54-4d47-ab28-c4143d1abb98 CLINVAR:495806 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6d1c14e-3a91-4f0d-b215-d841bce5d3ee CLINVAR:580948 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a09a4406-dc3e-4c2a-ac04-3435e63f03de CLINVAR:580948 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2eeff5f8-26ce-4dc6-a133-7c43a6389938 CLINVAR:694617 biolink:causes MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5892eac-c3f6-4f70-87e6-ecd4001ba89f CLINVAR:694617 biolink:is_sequence_variant_of HGNC:10586 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa12f4ce-aede-4f1c-92ed-29b29ae0811d CLINVAR:1527893 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4236c67-204d-48fd-9e0c-943feb9014bc CLINVAR:1527893 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 365a883a-57aa-4b23-8f65-5ea5ca69a49c CLINVAR:810877 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 379936c6-98c7-479f-98ec-7f792ba783bf CLINVAR:810877 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9800fe83-5f6e-47b0-9632-dd0f6521612e CLINVAR:942974 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c63cb0f-79dc-42f7-93ca-f31743035548 CLINVAR:942974 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca37354c-d856-4865-8ac6-fc70b548c8ee CLINVAR:1036903 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 606e5b9d-75c0-4fd6-bcb9-db3d4aef4f84 CLINVAR:1036903 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b81ea3bc-4a1b-48c6-82bb-d89d0e66e7a7 CLINVAR:99375 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3948c46-3cd8-4e00-9b58-b01c73e0c084 CLINVAR:99375 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14485f74-3f3e-44c2-ba76-172a3e3f98e3 CAID:CA341276980 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2613a2c9-c667-4a44-a311-3275cba355ef CAID:CA341276980 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02d7daec-a0e8-43b4-a1db-16bdb6a371e5 CLINVAR:99450 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0c6c337-0cda-4de3-b210-5d56ae163ae8 CLINVAR:99450 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c8779dd-39ab-4b37-a1fc-0ac3bc97f281 CLINVAR:236109 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58e56c1c-4618-4b7c-bdf6-6d5dd5bf4964 CLINVAR:236109 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81cea416-2c4e-4e8c-8b24-7a47fad4cc13 CLINVAR:228954 biolink:associated_with_increased_likelihood_of MONDO:0010860 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb30a034-d554-4684-92a2-a0dd8c5ded32 CLINVAR:228954 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8fca4a2-9024-4905-8797-39bc6badeddf CLINVAR:99087 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05077bc0-eae2-450f-bf13-547b40d7f98e CLINVAR:99087 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b7dc888-de72-4947-91b3-c9213b8c6c59 CLINVAR:7898 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85abc7b0-27a0-4854-b6ca-7f78e1d40cbd CLINVAR:7898 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a621e23c-2843-4250-b311-07ce2be4c264 CAID:CA031062 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7bcade99-2237-4db3-adcf-b40b4d05254e CAID:CA031062 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76e31d1e-6283-46f8-bbe2-724853f19f34 CLINVAR:236113 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5d75027-4978-4fa6-ab38-08e723331750 CLINVAR:236113 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 653c2be7-aca8-4829-8c51-209f74ff0adf CLINVAR:836905 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c426a0e-d010-43ac-983d-1201fd876b8b CLINVAR:836905 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd17a110-e294-422f-874a-4add674aa880 CLINVAR:99084 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f7dc1f8-0b1e-405a-807e-64bd0bae7a5e CLINVAR:99084 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 190416c4-75d8-4576-babc-67e97546a74a CLINVAR:871507 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11be1d8b-3c64-4255-b93f-17ef23fb097a CLINVAR:871507 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a282c52-26fc-4ae4-a292-f03c5ca66d17 CLINVAR:99224 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f4e85a11-6a7c-47b3-b822-fdd1f3069ece CLINVAR:99224 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49115cbd-3f31-4575-999c-16b8dd380f55 CLINVAR:7904 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 788eedb5-0834-4d3a-9414-65e3c3ba03b7 CLINVAR:7904 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3b80227-34fa-443d-8357-67506b4e1fa2 CLINVAR:438100 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96189345-fc7a-4c20-af8c-1b3cccc01172 CLINVAR:438100 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5215b073-6002-487a-8445-ccae9a89a7ec CLINVAR:7879 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a4815e7-01e7-4795-b8ff-949d5a4d86b8 CLINVAR:7879 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e2d1672-90d8-4b6e-8bb7-861caf74e4f0 CLINVAR:143076 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c99c3735-fac4-4eb8-a32f-dc562969ffde CLINVAR:143076 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc73f4ff-b553-43af-a323-0a629ebd5a3e CLINVAR:99303 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c046758f-d2e8-4d54-ab35-949bb3812c23 CLINVAR:99303 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2377be8b-231d-4000-bfc0-0f07c78e526f CLINVAR:2585325 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6e7342d-4777-4812-8b39-613a9dadac6e CLINVAR:2585325 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddc9b4f4-d765-4f21-ab78-91f512fadb3d CLINVAR:1454986 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 755f2cd6-65a8-487a-9548-b31b6219f6d0 CLINVAR:1454986 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8942f44-423a-45e8-840e-91edc8400094 CLINVAR:236516 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82f75b80-bc0d-4445-82f8-4939d9e8cdd9 CLINVAR:236516 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15925285-a2d3-4d22-ab45-8e0515c97e2c CLINVAR:1440605 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a9ab911-f262-4901-b3b9-a843cc1ab758 CLINVAR:1440605 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c5efdbd-4128-436f-a719-98b9796bd45e CLINVAR:812202 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38906dbe-c488-47e7-a584-04eee2d26906 CLINVAR:812202 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4aebbb6f-ac4b-4c00-bb27-0ee5c32cf4b6 CLINVAR:236122 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 989bc3cd-1146-4225-9398-b36355dc6c78 CLINVAR:236122 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca32f945-9b69-4f56-a179-2801d29e1c07 CLINVAR:866242 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 19f3a34e-d41a-4cfe-89fb-f2967d5b1784 CLINVAR:866242 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3a9e14a-a9e4-41e4-96eb-bf7af462c1a1 CAID:CA341283237 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d257c90-f154-4744-be74-5caa10957686 CAID:CA341283237 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7174c6b-bd21-46af-be85-e09a616b8a38 CLINVAR:1196428 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d7f3747-e8e3-4fec-b350-a34d9fdc1256 CLINVAR:1196428 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 646bfebd-a302-4247-9bbe-9289e606eb13 CLINVAR:99359 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f5a23b8-22f8-4af8-bbe5-ac02928d71df CLINVAR:99359 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5365c6b-87bc-4302-995d-f10d6be9df89 CAID:CA2586966736 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6ec66c47-508e-463e-937d-bdb3e068f1bd CAID:CA2586966736 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29707a4b-9285-40da-97ab-abd25bf90f77 CLINVAR:822002 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08236668-1fe8-49c5-8ff3-13a07c60a535 CLINVAR:822002 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d00abfb1-b49f-46a7-be7a-e076c79a81f5 CLINVAR:99135 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d4255f4-f7ca-4787-a6ea-97981ddc1101 CLINVAR:99135 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2062085-99eb-4473-ae27-fee652a2eb9a CLINVAR:99455 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ded734fd-ffb0-4019-825a-ee59544b590e CLINVAR:99455 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ac1d505-567c-45ef-b95e-fa4ca799fe98 CAID:CA8365610 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c03ebd7d-90f9-4f3d-9428-04240f228c8b CAID:CA8365610 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e8f0589-e56a-489f-bf95-d1bb3ecafbb4 CLINVAR:1372740 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24ba201e-deb8-4a87-9b5d-623fa47e7f0d CLINVAR:1372740 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1362dfac-75e2-4c8d-8624-e14588467072 CAID:CA3249353685 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c4014ba-c154-4d05-aa59-87e3ba7fe72e CAID:CA3249353685 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e98981b-bc39-4f51-969f-ab7211838c1c CLINVAR:2733942 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3dba6120-e3dc-487e-99f0-c329948ccb01 CLINVAR:2733942 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9ac1346-03ab-47eb-8e6a-3a7bc20f36f9 CLINVAR:99458 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18db0230-abdf-47d7-b695-5c6654e877b7 CLINVAR:99458 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adf7e8d0-9b5b-4c6e-915e-15d315536d2a CAID:CA397955377 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77409902-c029-4128-9fb5-1cbc0f3477ea CAID:CA397955377 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1ead6dc-46af-4c1b-ae58-289c163701e2 CAID:CA397946280 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 572a70b8-adc7-4e6b-b2b0-c8656d1d2050 CAID:CA397946280 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d98ed61e-2801-4a13-895b-96c421920bb4 CLINVAR:298222 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43e526fd-d796-464d-afaa-5b0f366f1da1 CLINVAR:298222 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4a3c984-4c54-4b22-9240-9fff52626df1 CLINVAR:99249 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b1949c1-fe59-48bf-94b4-680da03e8b09 CLINVAR:99249 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63cc07bb-6438-4c9e-834b-3a9dcda143c5 CLINVAR:498001 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb903d47-2e59-4fde-b942-fc33a5bdfd94 CLINVAR:498001 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83ad5d07-82a3-47b3-b67d-4c1adff12b9b CLINVAR:99338 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0fbf62e5-b138-494e-9a0c-4d945e5249b1 CLINVAR:99338 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b28e5494-85de-423b-8a7f-7c97495a03f4 CLINVAR:2678438 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8fe0862d-abb8-4e92-947b-3a27811dfcb7 CLINVAR:2678438 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ec8cd87-328e-4f31-ad4b-d727ddfa1c89 CLINVAR:3381789 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 619137a7-6e26-4e80-8da7-7784ecc1680f CLINVAR:3381789 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb44ea09-1155-4b63-b10c-bb1528441cba CLINVAR:973960 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 33dbd354-3896-4171-a77b-3f2cce90c629 CLINVAR:973960 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdbaf8b6-b8f5-43a5-acf6-cec6a1b61457 CAID:CA409110477 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 793e4a13-495d-4356-9fca-9ba8fe1bec27 CAID:CA409110477 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96f20467-ea2b-46b8-b0d6-3e65ccd3002b CLINVAR:1338955 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 396a27b4-9167-46db-952f-d1e46dfd5cab CLINVAR:1338955 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 465e4f51-fdd6-4b48-adcd-8f608d003b01 CLINVAR:98861 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4fb26e2a-36fe-4c90-ab55-f308e4ab7b0a CLINVAR:98861 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfd3da11-7805-40d6-9f32-90efca737146 CLINVAR:99104 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ccfa8309-eb0b-4037-ab28-0ca335a36d80 CLINVAR:99104 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd4b7ce3-d918-475c-bbe7-023b04c517eb CLINVAR:812208 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 509f3639-e821-4188-8347-de30a8c9a23f CLINVAR:812208 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e068065c-8fd4-4b40-bb83-ac0d59f7d038 CAID:CA341280330 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9bc244c3-6015-4fd2-97c1-a94ccde08799 CAID:CA341280330 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d101b3c7-b22a-4b85-8825-00f229dac637 CAID:CA645372187 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d28ced0-6be7-4175-b608-5bde74a34c7b CAID:CA645372187 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 453f8512-b261-4679-b8dd-3d56cf6f1941 CAID:CA341275107 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e3e49b0-eb82-4007-b24b-b9234909c222 CAID:CA341275107 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 633b8f19-92a5-49df-a9f1-98ee858b26af CLINVAR:7900 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8219001-87c1-4ad0-a8fe-34997250834d CLINVAR:7900 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 173a04fd-bfac-45c9-87d5-912a596fb2cd CLINVAR:99217 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49ea4c40-53a6-447e-8ecd-b99ff8b34c8c CLINVAR:99217 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9f510bf-f2aa-4eb1-9a76-eb89ae2c1725 CLINVAR:7905 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25750bc1-5375-4f06-80fe-ec2fff5992b6 CLINVAR:7905 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6f99f4a-b42b-4fef-a4d3-b9445fafb659 CLINVAR:99073 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92d6de6a-d48d-4425-8cee-ace6fe99d48e CLINVAR:99073 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41fd8b25-93cb-43fa-95c1-984987baf86f CLINVAR:99337 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b34824b-2e44-4b5e-81e6-63e7583a7bbb CLINVAR:99337 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ce4c123-8531-4266-9329-a2b49477c0c9 CLINVAR:372290 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f999726-bbf7-441e-8be3-a92ad90e6453 CLINVAR:372290 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77814ff6-e285-41e6-b645-2fd8fefb60f1 CLINVAR:99113 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0dd4070-9955-4b5e-9273-ba8af2e63991 CLINVAR:99113 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7114b377-7eab-4c16-a79b-e8fb0afc0eda CLINVAR:2733921 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1465fc79-499d-4b46-88d1-8d57536adeef CLINVAR:2733921 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aeedb4f-fe12-4f5d-884d-3c1e847c9562 CLINVAR:280328 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5971374-09d3-4504-a608-613362dad600 CLINVAR:280328 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ad4fcde-2b38-4cf0-8be2-7efd400b5fcb CLINVAR:99305 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08aff735-fb75-4986-ad01-20f7d818e5ae CLINVAR:99305 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ab08b88-9388-4645-8dda-e2af8b28b44b CLINVAR:156596 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen befcb4fc-74b2-4ce1-a646-10ee18b177ec CLINVAR:156596 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7da6201b-fb14-490f-8b8f-1aac0d5be4f6 CLINVAR:2419189 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab423d3c-d648-4fc3-a9bf-d58aeb9a0208 CLINVAR:2419189 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00d68c4d-9013-45d2-bc8f-ca5f10fc1af4 CLINVAR:1879751 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc10943d-ad95-491b-9fc5-47744bab4984 CLINVAR:1879751 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46ed0ec4-26ac-4266-bb5c-bd144d85aa12 CLINVAR:2925658 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d88ddef-a5d9-4417-805c-e86b3058eae5 CLINVAR:2925658 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36c514b4-0b7e-4916-9a00-d7ce2a00cf26 CLINVAR:1700183 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae395e85-1059-4b4e-8b74-86970fed26bb CLINVAR:1700183 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c2684c4-eed7-4505-95f3-6d837102af36 CLINVAR:99300 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b2b9edf1-c89f-491a-bdd4-def6c3ddf147 CLINVAR:99300 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fd01042-0844-43bc-bb85-4b1149aad908 CLINVAR:2733935 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 711edca4-f100-44a4-87d6-0cd973f24346 CLINVAR:2733935 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 726d4138-ad23-4823-83bd-44a77473e550 CAID:CA341290648 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89e610bc-bee2-41c5-afd7-bcbd4d2b5e98 CAID:CA341290648 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5737a902-4d6f-4fd4-8339-fcead01b5318 CLINVAR:99283 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3604162-86a3-4468-9c23-6b2676de1405 CLINVAR:99283 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fb858a3-37ac-4f53-bca3-0862de5f4c58 CLINVAR:99110 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 923d3835-a020-445b-84be-8cb9887df266 CLINVAR:99110 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2b14d79-a8ce-4415-8a4b-9ff88719c3bb CAID:CA645372205 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ebc4d0c2-b482-42c7-941f-4da05adb7d46 CAID:CA645372205 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0455ff6-df35-43dc-a182-fbe5a2a790e6 CLINVAR:1460063 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29ea77ce-ea85-4ec0-916c-dafe7228029b CLINVAR:1460063 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6aba5d3-17bb-4da0-9d16-788f8e68a423 CLINVAR:99460 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1232aa6d-e8f1-4878-a75a-41b79510720c CLINVAR:99460 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ff3f3c9-2d55-47c9-a9fc-1495ed4a5c40 CLINVAR:618103 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b70caaa3-fc8b-467c-91ea-21cfb3555154 CLINVAR:618103 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7967b66-d80e-4fa4-8294-f30eaf26047b CLINVAR:1403996 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0f5460d-c617-4c2b-9cbb-6228d79fe517 CLINVAR:1403996 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 318d7465-a82a-4ef1-afa4-4f2b7be3214a CLINVAR:2534434 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0459564-e7f9-4f39-ab99-d5034378134c CLINVAR:2534434 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 996c9be3-d65f-46fc-893a-fc2e421dd79d CLINVAR:132808 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 461f39fd-2697-40a0-9f82-c0b0e5a92839 CLINVAR:132808 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d76ee56-d261-46ea-ab22-81e3ad67c4db CLINVAR:582515 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4682e36e-c71f-4c9b-9df2-1af56b6c12f4 CLINVAR:582515 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78194275-1f1d-4f77-bd66-386532b22b29 CAID:CA338303812 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69b94b22-3e2c-409e-8060-2cdaffd4b2ac CAID:CA338303812 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bed78a35-91b2-4246-b77e-2490ff21b26f CLINVAR:132807 biolink:causes MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 971d2a5e-ed7e-42a7-a7ac-c82e57b1584c CLINVAR:132807 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a62975b-1f11-4837-8449-8429b82f07bc CAID:CA338300169 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 605e5845-f315-43e5-af39-3f3372ee50b5 CAID:CA338300169 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7be65997-be30-4bc0-a539-e537af2d29fd CLINVAR:1457684 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e98a1e8e-7843-40ff-829e-bb6963164ac0 CLINVAR:1457684 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4c69acb-c06d-4341-ab78-9fbfe71dbded CLINVAR:1406866 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c95ec2b7-4d2a-46ce-955d-72b41a648168 CLINVAR:1406866 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ece5a508-a280-408e-98f2-5223cf0f5f87 CLINVAR:132806 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen de41ce37-04f7-447d-ab47-a0406455a79d CLINVAR:132806 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c834cc7a-12e1-4005-a887-e447216fda93 CLINVAR:578525 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a042fa2-e8a7-4de8-bafc-ddb6a56c3b85 CLINVAR:578525 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a49cbe81-14e2-4e3f-82c5-b73eb8b991e7 CLINVAR:871047 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93eead0f-d267-42e1-ab64-96268685c298 CLINVAR:871047 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81f7cac0-abab-40be-adcd-e83a8c4fad93 CLINVAR:1051935 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01ffd84a-951c-42d4-af4f-2df216eab964 CLINVAR:1051935 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50a36bef-9940-4f31-ae26-ce9ba0dc6bfd CLINVAR:88675 biolink:causes MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98174f32-6c48-4e35-b573-6e88ce6c74b5 CLINVAR:88675 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6efa2847-3c91-4cbf-a292-2d7811a49171 CLINVAR:422410 biolink:causes MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68355649-bc7a-40e6-8200-1a238ee28504 CLINVAR:422410 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52224805-45e5-49ec-a09c-85007450d542 CLINVAR:2733822 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen edbfb0ca-dd0b-4728-ba2c-f966bc3450a4 CLINVAR:2733822 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 333e6e5e-6990-40bc-8a77-761ca10720d4 CLINVAR:2703020 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 31e5f5d4-92da-49fc-8d56-9aa6a4e1f35c CLINVAR:2703020 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d061c6d8-c30a-4c16-981d-6055220b9fc8 CLINVAR:2106910 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5458613-d951-4d91-b005-fc8558601361 CLINVAR:2106910 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75110517-87f6-49da-8668-9b376aab88d5 CLINVAR:1409092 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3dcab8c-6efe-483a-9dc1-c1bbd11af16a CLINVAR:1409092 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 860d19ac-f14a-40a2-8a8d-a4c667bfb41f CLINVAR:806050 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 979a70e0-2b67-481e-9d1a-88d9bf00fbc0 CLINVAR:806050 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc7832c4-4801-4cdf-bd6a-15b295375cda CLINVAR:1331658 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf51c6db-beb5-483c-8e72-466ed8640984 CLINVAR:1331658 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2cbe9d6-234e-40ea-92af-af25505e551c CLINVAR:636715 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0becade6-dbd8-4db2-ba6c-683e61c45833 CLINVAR:636715 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80db4153-8ef4-4c40-a78b-b050cf585e23 CLINVAR:1510460 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f02fbfe4-c287-4dfb-9289-2a8378983a38 CLINVAR:1510460 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e427e3a-dd15-4b08-9efd-5c2746320c94 CLINVAR:935418 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1bdfb8e-4ccd-445e-a616-4ffe0ff8e301 CLINVAR:935418 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b31dd745-83b6-489d-9ba2-b49920fd7cf7 CLINVAR:1338106 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 586466d0-d82f-49be-ac89-c01548800ad6 CLINVAR:1338106 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e0c7e7d-a733-4ed5-ad5b-2e5c2579f3e0 CLINVAR:636973 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ccb18f01-c403-4a97-b85f-f5be8c36ec64 CLINVAR:636973 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13861638-8839-43aa-9528-99c94736bbda CLINVAR:1351534 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb0768be-c9ee-45c5-bf54-c8a3101a846b CLINVAR:1351534 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43f47c3b-64de-4f7b-a7c5-2c5aa1b68bd1 CAID:CA338300357 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a70ef5e-3969-4e1b-9445-cf42cfa20b58 CAID:CA338300357 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8da1ba8a-11fe-4c2b-beca-15105d2e1c5a CLINVAR:2580095 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbcbd6a6-cc30-4159-8704-976bcd2ce028 CLINVAR:2580095 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 440be3f9-c1db-4884-908e-ec3c411e2b07 CLINVAR:2414651 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49ea0039-e3dc-404f-be3c-4052042c39fe CLINVAR:2414651 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c75ecb6-f341-4475-82a8-5fea13c07336 CLINVAR:942111 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94974380-f992-42fc-a445-45fa68647d30 CLINVAR:942111 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9801462-4d94-4cde-bace-48cc30f6dcb6 CLINVAR:1381345 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 488d1ae3-9b2e-43f1-8cbc-d08e05d15ac1 CLINVAR:1381345 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e416e425-61f8-4ece-96eb-6eb269f09b3d CLINVAR:411299 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2a4dd958-e230-443f-b533-bbcb2bf152df CLINVAR:411299 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d74ca472-8424-4339-946d-91244506b249 CLINVAR:426011 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7106028-092b-4262-a588-ee41555af0b8 CLINVAR:426011 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa4aab61-4e8b-4395-90f7-b24c2cc6c371 CLINVAR:11917 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8f39335-17fc-4fc3-8392-f7ba772fcf4e CLINVAR:11917 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d0b6b93-7266-4a38-85c3-fb28b332a174 CLINVAR:553227 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen efefbda1-4752-48f5-a68b-6a791ddf601e CLINVAR:553227 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dffb54e7-5d93-4e9a-86ac-40a8ccdbea56 CLINVAR:1451219 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d08d3a0b-031d-4161-baf1-fee9bf123e58 CLINVAR:1451219 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36ef0834-586f-43c1-a249-602c276484b8 CLINVAR:554826 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a742ab18-b5d2-4be1-aa8d-d3787d6dfece CLINVAR:554826 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df95e3d6-2cbb-4c71-adf3-cd1dfc042971 CAID:CA355962890 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3928b4c2-e34e-4370-8e42-19bf938abb41 CAID:CA355962890 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8ed4251-1498-40d6-8367-4bd75ae9ef45 CLINVAR:558027 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6cc09427-1b2d-48e0-9118-14905fbbe0a5 CLINVAR:558027 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05617c5a-3caf-4822-b6a9-9e1b3e6a1ec0 CAID:CA355962113 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e73e0443-0c2f-4ae4-95c9-5c16f8cd2541 CAID:CA355962113 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3887a993-6c47-4058-bc5c-f8efede78ab2 CLINVAR:2058952 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6858a8bf-f23b-47f9-9a00-f00a2cda8866 CLINVAR:2058952 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbdd6a70-22b9-43b1-bed6-62efa403ac33 CAID:CA355965300 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae1fe2a9-5f81-4ad4-a819-603a4cc48b93 CAID:CA355965300 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 802a5c4d-5f4b-4511-8c53-9821ed54e6c2 CLINVAR:1067236 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33c2da2b-95b1-4781-aa58-346cc8cae931 CLINVAR:1067236 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a39b70d-dee2-4cab-ba81-6b199647d1b2 CAID:CA355963308 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78967455-b458-4eea-ad38-dc31d11b6b56 CAID:CA355963308 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fffed56-c158-4799-8696-6873bf87a880 CAID:CA355965312 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b217b6c0-7022-442a-84a2-fd93a9c0b53c CAID:CA355965312 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4eb3d11-7339-4c00-92b4-86ef94919381 CAID:CA355962740 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 273cddc1-308e-4747-83d6-55df04d027b9 CAID:CA355962740 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81fa2b7f-7500-4265-a679-bee1c9e1ced0 CLINVAR:2432770 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e649ad0-3908-4595-9117-09e50a96d1c7 CLINVAR:2432770 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55c25cdc-34b2-4047-8cd1-09907dbe1865 CLINVAR:222995 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 685862ba-3f7f-41ad-90ea-8c8826c4e1cb CLINVAR:222995 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb563dae-36d0-4d03-a22a-cb4a6543c17e CLINVAR:92634 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a35cfba-23b0-4203-952c-715933d558e4 CLINVAR:92634 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94589cd0-4aa9-4e9c-96aa-c90a13b1e18c CLINVAR:554670 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f0f856ff-c19d-4765-91e2-02e7a784a375 CLINVAR:554670 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fc08b5f-13ff-43f6-9ddc-75b38b6a26cc CLINVAR:2825913 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1725bc17-fef3-4922-af80-cbea2ab5efdf CLINVAR:2825913 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16523d52-f9bd-4778-bb39-6f0fd8abd7f3 CAID:CA355961706 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29cff1c1-7c62-42c1-84aa-64a7853b16f8 CAID:CA355961706 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af224880-1072-40ee-b2f9-80ad1c2fe941 CLINVAR:2585078 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf74ccc6-cb90-4a7d-9857-14d4a0aa9924 CLINVAR:2585078 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a51e3994-64ab-4ae2-b911-b426b9d6c74a CLINVAR:1064675 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 44b67f3f-035d-4dfb-9eb3-5827505085c4 CLINVAR:1064675 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75fc7f7a-d348-461e-9615-3119c038d316 CLINVAR:1742308 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2658b401-61b0-4cfd-b89c-dba8844bee86 CLINVAR:1742308 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa35f4dd-74b6-4f7b-9d55-833ab7069519 CLINVAR:573410 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2beab577-aa10-445a-8e00-a494384cdc9f CLINVAR:573410 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa24e6a9-b065-46a7-8ffc-dc095696cce9 CLINVAR:52823 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2156ecae-b6c9-46e2-8dc7-00476d006f91 CLINVAR:52823 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 002a609d-a32a-42c0-86b2-4b961b0f7948 CLINVAR:462524 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e45a3bb-6ccc-453d-8514-9b85d0d04634 CLINVAR:462524 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23c4800a-d5ec-44fa-b54f-12dad98499c5 CLINVAR:38202 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 147373bf-dadd-4c2f-a9ff-8519ed9064c4 CLINVAR:38202 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38f8f0f9-5386-4771-b10d-b2f83fe00b3b CLINVAR:481525 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 604acce0-38f4-4242-b346-d373bdeb48d8 CLINVAR:481525 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 390ccb63-e57c-49cd-b327-3ac34d86e69a CLINVAR:409429 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 590caf0a-545d-411c-a946-ec627fd2e599 CLINVAR:409429 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae01f9e2-bb36-4394-bb8f-689f8817da6c CLINVAR:126168 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e62bb78b-cfa7-4c5f-bea8-05286c94c424 CLINVAR:126168 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08f32497-e5ed-46aa-b75b-ba98c85bc324 CLINVAR:545487 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 97d5c9a6-6538-40b3-af46-784682f480be CLINVAR:545487 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d14951a1-99d3-4360-8081-97780e1889a4 CLINVAR:52513 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b28701f-7508-4b31-a588-51a87750dce6 CLINVAR:52513 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7104cdca-d3c3-4ac8-bdff-a9afd559b88f CLINVAR:96860 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0439f334-a051-46d0-9307-a5a4cc2b7365 CLINVAR:96860 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6cc727c-41f8-43e4-9153-1ba696947b45 CLINVAR:142784 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd683631-48f0-4631-8725-3cd159fd0947 CLINVAR:142784 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0533fed-816a-4826-8996-27f2cba89272 CLINVAR:182243 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e4622ea-edc2-4bae-b546-0ff4f37a49b4 CLINVAR:182243 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 359a21c8-8ccb-48d8-a150-cbad297a6531 CLINVAR:38114 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b68eab2-0604-4a14-a8e1-b559d849fab2 CLINVAR:38114 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a2d70a2-587e-4d75-b9a6-e20a70b11177 CLINVAR:91457 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15154b0a-d9c3-4882-b70d-153562d81825 CLINVAR:91457 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50afdb88-d83a-4643-953e-b54be34539bc CLINVAR:225732 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df230e9f-ddef-4e43-b81b-d0404c0380d7 CLINVAR:225732 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee9ffc94-9a02-432b-b0a2-a94a1174d89f CLINVAR:423044 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0499f7f-ed53-4783-b6a8-1904272e695b CLINVAR:423044 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 644208ce-d0cc-4f76-8fcf-13c5b7ce5d55 CLINVAR:55613 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f962cbd-8a11-4936-a3c4-ab86cee8293f CLINVAR:55613 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8fdfb1d-c1ef-4250-9ced-28cc8319fd84 CLINVAR:225711 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa9102a2-f299-45f0-a6f9-529306e18c32 CLINVAR:225711 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fc782c9-5d04-4f7e-891e-f20ad6be335d CLINVAR:91641 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42350af7-a6b1-4f65-baba-f7dd7b841598 CLINVAR:91641 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 777bb881-3c2f-4d1a-8d96-4a8f7a631a21 CLINVAR:55425 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b3316de6-521f-458f-871d-de06278605d7 CLINVAR:55425 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3ecda4d-614b-4409-8033-9f996eaee039 CLINVAR:54704 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1fc5661-aeab-4ee2-b4ef-9f0b1b638e19 CLINVAR:54704 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73316eaf-ba5f-4216-b4c0-1763950a9250 CLINVAR:186913 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eed8c095-5f5d-4b08-811d-7106a01896d5 CLINVAR:186913 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 987d2ce4-2fd9-47bc-98ce-cda6e5efd682 CLINVAR:55732 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 139dcde1-ef31-449e-a9c7-2a6f830a8e7f CLINVAR:55732 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22cc76b3-86d3-4ef6-9b9a-c03849456e2d CLINVAR:1683998 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1df6e5a-9a8a-424a-888a-57ff5e665e0f CLINVAR:1683998 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75f30b6a-cfcd-4e2f-96ce-04f0b264bf81 CLINVAR:100408 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0f68e08-2a6e-440f-889d-87378d799e54 CLINVAR:100408 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69a1d1dd-1076-40a5-bbe3-e1efd0c2a885 CLINVAR:102805 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39bf0bbe-635f-4fa2-a441-7f85531aa090 CLINVAR:102805 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73bddb4c-1bd3-48fa-b70c-8a9e2f4e008d CLINVAR:551287 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b716094-ad81-4eaf-907f-cf85b4e8561e CLINVAR:551287 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28e0ad2a-8b77-4f2e-9d10-602913de567b CLINVAR:284945 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1fc4e1a3-afae-4775-bd6f-5cee96109d37 CLINVAR:284945 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b816b1d1-33ba-44b3-b1e1-86e24d292d46 CAID:CA712895444 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94aa133e-369f-45fb-9a99-b460d36de6cc CAID:CA712895444 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d92b1741-b8a5-4e83-b1ba-683c7010626d CLINVAR:217152 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 352b5d4a-739e-4d44-a903-34520a58e6b0 CLINVAR:217152 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b73d692a-7295-420d-b4e8-5ba90f767757 CLINVAR:282617 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d560587d-60f3-4ebd-a2c1-b275b2ce0eb7 CLINVAR:282617 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ebf18e1-1d82-425c-82c6-c6a2620afa1e CLINVAR:551237 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 990cae64-bafd-4bd8-87bc-39cc8d4c6bc2 CLINVAR:551237 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a4d053b-bfc5-49d5-822c-3f6decc4ba5d CAID:CA347224828 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f8fa3d8-3582-47bf-9ca8-08a3a2c2736b CAID:CA347224828 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb6a2abc-100e-4cd2-8e6a-c78671f753da CLINVAR:6665 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49e9b8aa-83db-4760-8de9-442428f7352b CLINVAR:6665 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcce99ba-57ee-41f8-8391-e16239094d40 CAID:CA2832612270 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 830bffc1-2a09-4df9-83e3-052e590f6454 CAID:CA2832612270 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f2d662a-5aaf-4608-9331-d01c77d3f77b CLINVAR:498267 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6937ccb7-afd6-451e-87a7-db0cf136e0ea CLINVAR:498267 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 543ce871-04dd-4000-b63f-8b21e1eed4b6 CLINVAR:285130 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d106885-c3c5-4824-8233-a246c025cba5 CLINVAR:285130 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0e04b09-4aaf-4abc-b25c-671d8221d659 CLINVAR:1971 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a83bf9cc-7b34-4cf0-ac61-a376be405247 CLINVAR:1971 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5b09d70-2f38-42e5-88ca-9a66c40dc399 CLINVAR:1070168 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3adf5105-2698-43e3-a096-b2e879e740a6 CLINVAR:1070168 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b20cced1-bf28-4f94-9b85-86d62e1f533a CLINVAR:660211 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a4079ff-22bf-4578-8dea-f7a8a30015e9 CLINVAR:660211 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0df023d1-1d17-4c6c-8fc6-157c297e320c CLINVAR:863577 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 44d56c0f-0ba0-4003-8881-fad7f536dea6 CLINVAR:863577 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3c3bcbc-945d-4575-a571-96578192b59e CLINVAR:13144 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eda012ca-165b-4ed9-b457-1c0bf4cb9094 CLINVAR:13144 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf939838-dd2f-4e1a-bb08-2cbcef2bb436 CLINVAR:960496 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 013484b4-32c5-4306-af0e-446a0fbc0174 CLINVAR:960496 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed04a7db-fd17-4be0-8263-980c6ddb67f7 CLINVAR:370856 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56f72923-b864-4b67-9027-9b9bb114e880 CLINVAR:370856 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf80dead-d96c-4e70-b843-df092663e2b4 CLINVAR:194315 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9c065bb-0d1f-4eb4-9dbc-72c4b0a646df CLINVAR:194315 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58634e08-2a65-43a5-a1fa-1c16fc3bc63b CLINVAR:421804 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a23f9ac-3d5e-4ebb-b527-d0fe71b9535e CLINVAR:421804 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6b569dc-2210-4ee3-9a62-4d782c0416fd CLINVAR:127812 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68c4a785-c06e-4e08-8253-93bc47d02147 CLINVAR:127812 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 919544de-39e3-4550-813d-c5fa4abcb89c CLINVAR:1375764 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c742fe04-d69e-41a5-a677-342c74232b21 CLINVAR:1375764 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1c029a7-923f-4eb3-8fd9-ddad877fb1f3 CLINVAR:1524222 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 564157bb-0ac4-4c74-88c2-d7519963d597 CLINVAR:1524222 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f54c78a4-cc15-43c8-9005-c5469cf7f5a9 CLINVAR:490175 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c763d8f1-55e7-4482-be7d-7494471643e2 CLINVAR:490175 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82f72463-f796-40aa-a267-12779f9c63a5 CLINVAR:1696146 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e338c25-5736-4def-8d7b-5f33e95e3c8b CLINVAR:1696146 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09bc01dc-42d5-4511-a07c-8b6c2f007025 CLINVAR:627374 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0186375-ee32-46bd-909e-0df15dbc632e CLINVAR:627374 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b97f713-9098-4838-9e58-8556a0f5dc68 CLINVAR:1986858 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7fe399f1-e3fd-48c8-ada9-6e970cdeb3da CLINVAR:1986858 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba9c50d8-4e1e-465c-aa5a-5bb5b36480ba CLINVAR:2946266 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84b7c0f9-df7b-4c1f-9e59-4dff4f69717f CLINVAR:2946266 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 579c67e3-398f-4b94-a90a-e2fc024d51c2 CAID:CA23577160 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0680b9d5-040c-403e-b9a8-3316988c0179 CAID:CA23577160 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf7bcd2f-b63c-41f8-a291-6408fd96f23c CLINVAR:2137414 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4dd62cbe-ffdb-4cb2-9f92-1a3b5131a1b2 CLINVAR:2137414 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b15d4c45-a965-47aa-a89a-56841327c33a CLINVAR:829832 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59238597-5cde-41f6-8eb8-5be7fa6943be CLINVAR:829832 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19ee04f0-d5cf-4926-a1aa-633d6b897223 CLINVAR:235256 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c82671ed-ed8e-4516-9391-f0fdfc6afbcf CLINVAR:235256 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1346f67f-c7e7-4ebc-9460-39b4c110919a CLINVAR:98900 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f842bce-3f3d-4055-996e-66af6200dd8a CLINVAR:98900 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81c28c1f-ffe0-4df1-8df3-fcb88aaa09e4 CLINVAR:1491487 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2771dc9-d991-414b-a13a-32aec51d4d2d CLINVAR:1491487 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8350f325-a6c1-4548-86d5-0489bc806036 CAID:CA354447929 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a561309b-fd3f-4d0a-aeaa-7fb5df46312a CAID:CA354447929 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef0273c9-cda3-475a-9b4c-af536d0f9e39 CLINVAR:3588372 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 92a9d10b-dc2a-4ddf-bb8c-d20b386e98b7 CLINVAR:3588372 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d82af677-b0a1-45e0-92f8-fb45b62b6d8f CLINVAR:2503896 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen afad9fc9-2ab6-48a4-ab68-f8b2ff4e5ca8 CLINVAR:2503896 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e6268c3-c606-488e-baa3-9d9f646aabe6 CLINVAR:1691234 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f17eab8-389c-46ac-b270-fd9f66a26b3d CLINVAR:1691234 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91b64af0-1e11-486e-909b-53873400d76f CLINVAR:627355 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e7e190c-bc20-497f-bb77-c8c3920e6304 CLINVAR:627355 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f6344b7-ffe6-45ff-ae2b-e3e1a354ccb6 CAID:CA658795219 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 908df0ac-6ec7-45e7-b144-5287900d6f2d CAID:CA658795219 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50766055-bc90-4410-8e07-7d470b1def34 CLINVAR:1703859 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 25296ccc-7a95-4696-9ff7-d9284a24273d CLINVAR:1703859 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 518b6247-23ad-4eef-a773-356dcabee9d8 CLINVAR:16040 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8b3f2f2-1cb7-4c3c-bdee-670c88fbd904 CLINVAR:16040 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a106b3a-b126-4ee1-b138-f774d013db3d CLINVAR:890136 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 562d3694-7d1a-4183-8c10-9ddf0c3328bb CLINVAR:890136 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d70be0b5-495e-4868-b790-d37078124524 CLINVAR:2154687 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c80bc5b-c881-456c-8c60-ef0c5dc3e41e CLINVAR:2154687 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4869ad30-361a-457c-ab0d-d1c0cdb64c96 CLINVAR:2507419 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d29f7cf-0cc5-4940-882e-2b67b0c0b03a CLINVAR:2507419 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3259f41a-5430-4d55-94f0-62589c99e10f CLINVAR:932855 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0222cf0-aa36-4bef-8380-923510a6b0ff CLINVAR:932855 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5855ced2-f73f-4ed8-822e-4dcec302a0f9 CLINVAR:541717 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0fb95101-d232-43ea-9ddd-be8d0022c834 CLINVAR:541717 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0262785d-242b-4f6f-991d-79fad382dd72 CLINVAR:2629237 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de3c1e84-5ed6-4a4e-be3b-fe267f0cf67c CLINVAR:2629237 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 720dbb4b-fba1-46b9-a94b-a912a3302f14 CLINVAR:2671648 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9fce0fdb-1d5c-4d31-9f65-383876a2e867 CLINVAR:2671648 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65265e8b-2cb8-477c-87ac-4a5c012a2b20 CLINVAR:1930166 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0767ef94-ac37-4405-8bf7-fafd730b04a9 CLINVAR:1930166 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1309b093-64be-48b8-96d7-f0405611809f CAID:CA343724600 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9d6d543-858e-4ec2-95ef-580d97561dbf CAID:CA343724600 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e60e5b39-c4d2-464b-93ae-d4c607549a57 CLINVAR:448982 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fedd9721-f3a4-48a8-8c94-1056c567dfbc CLINVAR:448982 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d83d14f7-cd68-426c-ada4-7042fcadaaf0 CLINVAR:285852 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3824d648-808e-4bbe-9e91-181308079f08 CLINVAR:285852 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cea7a68-174d-42f5-bd33-5fe3ec439210 CLINVAR:203584 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d83eb36e-888e-45e7-820a-5171161b9a47 CLINVAR:203584 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90f91d14-d5e1-42d7-89b6-600646bac4e7 CLINVAR:166647 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6b54134-959b-45d3-a830-bfa14a8d0228 CLINVAR:166647 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ad5114d-f65e-4f9b-9805-a3eb138bd74b CLINVAR:932837 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d6f82ff-466e-4346-9ab9-1b9d74d3447a CLINVAR:932837 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5df48c0-c599-421a-a016-d9517410ea86 CLINVAR:193786 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 869e94b1-2702-431f-bca4-c25b53a1605a CLINVAR:193786 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4376833-7a01-4741-b492-2d01da43cd75 CLINVAR:100923 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a87b3cac-27a4-4217-9174-2c7ce83dad35 CLINVAR:100923 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c239a763-21aa-4318-a395-c0704bb4502c CLINVAR:1068471 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ec6eac81-6eaa-40ec-bf49-56863fb21bc4 CLINVAR:1068471 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c251095-6030-47ed-bf29-614b11dff605 CLINVAR:18021 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d4352cc-7310-4d83-ba48-7c1b474671b1 CLINVAR:18021 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4839f3a7-ce3d-420b-bd25-d1f88a86b434 CAID:CA343777475 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20bc863e-f55e-4f3a-9400-bd590dce1b48 CAID:CA343777475 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dd92573-7786-4742-a792-6220e79ae6c1 CLINVAR:1997307 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6701e88-cdb1-4160-b2f1-f40f9411e232 CLINVAR:1997307 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96b3414e-508b-431c-a7e4-95a4883e5bd0 CLINVAR:1001692 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a12c8e44-45af-43b2-adad-0fcef9bcbecd CLINVAR:1001692 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9a5f7bf-f183-45cf-8621-4e5e78797324 CAID:CA32782248 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa507bda-f10f-41a4-959a-18986e253c61 CAID:CA32782248 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b321e7a2-ba9a-4a86-8345-cefa13fb089b CLINVAR:1353268 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8303a782-2d15-4c85-bf99-d35baa57862e CLINVAR:1353268 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4de17298-9bc8-4516-b1c5-6e0aedde055f CLINVAR:1678105 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf7b500c-2848-48c9-a801-41282991f43b CLINVAR:1678105 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d076a51e-a882-436a-a55c-fa3258d802f2 CLINVAR:1324499 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8cd1b869-ce70-426a-ad5c-7aa010936dd2 CLINVAR:1324499 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d9421c2-3122-4ec5-8a30-9ed7b90f6393 CAID:CA2695233282 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e6d0ecc-6b4f-4d35-8bb7-af2ced39cef9 CAID:CA2695233282 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdd3edf6-2265-4d53-80fd-d6e76b1cc93c CLINVAR:2907569 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4553d4e0-7742-4cc7-9137-f8aa428f4618 CLINVAR:2907569 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a40e4017-c7d6-4f7c-bb61-028f2e2f9dde CLINVAR:2736680 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e07afbf-0536-434b-a36a-7aac27f68e65 CLINVAR:2736680 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5c13185-4dfa-4223-a3af-b07f08009edc CLINVAR:972792 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 217763a6-93e7-4798-83e9-8de137548748 CLINVAR:972792 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dbbd213-edc1-4317-91c9-c34ecf395f06 CLINVAR:2736673 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a236f31-11e1-4b31-b354-74e0342ae450 CLINVAR:2736673 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb5b660e-53ce-4052-a2a4-f4d262a3fd61 CLINVAR:935900 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen abaf8761-95b3-4fc4-9e42-dfd950afb820 CLINVAR:935900 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d489d7c-0a00-46be-b6dd-7562deb9705b CLINVAR:2727745 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 770389c9-6816-4762-9ca6-a53686dd066b CLINVAR:2727745 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92ffe5b7-8795-4185-8055-d5885278d074 CLINVAR:1209876 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04f5fea3-a79f-4567-ab0f-6c8b8918eb5f CLINVAR:1209876 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0f2803d-4f63-4a74-8339-a545cbdc546a CLINVAR:929411 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a74c1e8-f862-49eb-97c4-a1d8a023f0a4 CLINVAR:929411 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cc8f3d6-ffe1-4b81-ba90-76b683e08ca2 CLINVAR:30563 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 187ed179-fd78-41d5-98c4-3df0e22ce259 CLINVAR:30563 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a1462a2-ae51-44e8-9d3f-ff524485bfb0 CLINVAR:933077 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 432c8377-1103-4743-9ca2-38030fbb015f CLINVAR:933077 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d069afb1-4ffd-4b47-89f4-659a0ecf5c91 CLINVAR:3501939 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3389e03-df0c-4fd6-9b1c-935843890461 CLINVAR:3501939 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70345cf2-a4da-4734-a4e5-74a523969f68 CLINVAR:2903970 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d26a51c3-d3c9-4f2b-a765-101d3c953ce7 CLINVAR:2903970 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f778586c-25df-4c68-b053-c706c44f6978 CLINVAR:657274 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c60a3b8-2d36-421c-9041-d5dbbb095cf0 CLINVAR:657274 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 245a704c-9588-4b5a-bb5f-550506e0e829 CLINVAR:2445404 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b4bbd5d-484a-4c3e-b4b2-c6545402258c CLINVAR:2445404 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4ab11ac-e51a-427e-bfaa-d388d83e02a0 CLINVAR:183109 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3dba2699-2fca-4633-a315-a88eca594c97 CLINVAR:183109 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ef0f1ff-f09c-4b8f-b880-593a2ab4d2bc CLINVAR:226350 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 59bfb20e-2515-4b5d-a6da-c882e851b388 CLINVAR:226350 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dcd401a-38f4-46d8-937c-65f6c1a4c4c9 CLINVAR:3074081 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1eb3e361-5b10-4a89-b800-bcf77d1adbf8 CLINVAR:3074081 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10cf17ec-2917-4819-b05f-cece71930f72 CLINVAR:441214 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d891e4a0-2f61-46fa-9671-234c0c268696 CLINVAR:441214 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f6a563e-8cf4-401b-a1ea-c90cd495389a CLINVAR:99292 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76b6cb52-774a-4a03-8c25-9e7e85327c2e CLINVAR:99292 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b671b7b1-b78e-4380-bc75-c9749707f480 CLINVAR:417992 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d7caad4-2ce4-4259-991b-685d4fb511d5 CLINVAR:417992 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b7c305b-6354-4516-be9f-36d1e1cf534b CLINVAR:298237 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0093258-2574-4023-8541-e86c67604b05 CLINVAR:298237 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ad8dc9e-55eb-47fd-955a-459cb381fe3f CAID:CA386963839 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7381494b-5446-4938-b0f2-1d5b263d7da6 CAID:CA386963839 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6da1ec57-754a-42e4-aa87-99cd6dbbd292 CLINVAR:14944 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2667a96e-2608-48ea-97ef-c531738ef4f9 CLINVAR:14944 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b3e8138-2b14-4909-ae07-a69d2ab478c3 CAID:CA386964102 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a3d31ed3-2eab-4eda-99c9-63ba7679e6ee CAID:CA386964102 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f5da3dc-aa81-4b60-9f58-bb7643da95b2 CAID:CA2573051299 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a171a5a2-bed5-4b34-a157-3fd07adf72aa CAID:CA2573051299 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87c3329a-f0f7-408e-b4f6-61f8e8653ce6 CAID:CA2580612115 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 902e2105-450b-4f8f-b1ba-ff4e3cb4125a CAID:CA2580612115 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 981ffa37-5e89-4abe-a4f2-39f53d03b3d2 CLINVAR:585916 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5fa0a87a-9af5-435c-9947-af569eeaf4e7 CLINVAR:585916 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8790fd8b-1e23-40c6-80a9-538e7b0a0499 CLINVAR:2635153 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c8c3676-e8bb-4651-8782-3c048b9da9de CLINVAR:2635153 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e77dc849-aa0c-4dd3-8ee2-cc0b64928aa7 CLINVAR:1700674 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92a92f90-ff0d-4ae6-a319-4b91b150bf85 CLINVAR:1700674 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08dfd670-dd41-43cd-baa5-41e80b29c477 CAID:CA367398213 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7130ee24-001e-483c-a905-605967af7999 CAID:CA367398213 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83d6123d-a8cc-45c1-924e-3d4e18c3f3c5 CAID:CA367398211 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e6c632b-0b91-4ff7-9da0-2b9f1ea68dd5 CAID:CA367398211 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a2f5324-23d2-40ea-890b-49a28f7c0fa0 CAID:CA367398219 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 245e28c3-0188-43fc-bc09-399996e11247 CAID:CA367398219 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8931584f-c12f-4cc1-ab47-d04a1c63bda6 CLINVAR:804839 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d6e545cd-b508-4b9c-a8e1-2ab65ed794b7 CLINVAR:804839 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b62f72f-66e1-475b-bdcf-3c920cddc597 CAID:CA367398220 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5100665a-8400-443c-a382-0b796ec75201 CAID:CA367398220 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1b37edc-aad0-4051-ac1c-8b75c1cc6657 CAID:CA367400741 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 974910dd-61c7-4bc0-abb8-8b5691f61fee CAID:CA367400741 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77f0715c-547a-402e-81f9-1f163550b9a6 CLINVAR:447404 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6a9bc07-937c-4da2-8c4f-6069f02e2413 CLINVAR:447404 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06554755-42f3-4cf8-888b-6fcf15f8be88 CLINVAR:1743101 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d6a92697-9c1e-4fe5-bcd5-e9696133b318 CLINVAR:1743101 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d18b364f-e649-4be5-89c5-4abea8cd9dfd CAID:CA367401841 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0bda3186-dc3c-4095-ab7b-ac070b8520b7 CAID:CA367401841 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3eebb5e-f1e9-4e29-8135-18f6f5352a04 CAID:CA367401839 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8116e794-1491-4815-abda-5e01e49f5e1d CAID:CA367401839 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb162c01-eaf3-4f57-a118-3f3ab415e5aa CLINVAR:36259 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e907e39-76c0-4081-b280-b94ce2c80e48 CLINVAR:36259 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d91a20cd-49a2-408e-b3c4-a4d3ed8ed26f CLINVAR:1464253 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e7a67fd-bec2-406a-bec9-0cfbc1198386 CLINVAR:1464253 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6fdae90-0023-4b01-934a-8887b80a862e CAID:CA367401151 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 701e69ac-689d-458b-b497-957d6c110953 CAID:CA367401151 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1298da31-65fe-471d-89a8-4b0fc779ac84 CAID:CA367401143 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34f4cc67-6403-4351-ad52-f61dfad82f5f CAID:CA367401143 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 953573c4-ca69-489c-8edd-dc0dcd954f95 CLINVAR:3661587 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9d8def4f-15e2-4e32-8748-60a3336691ed CLINVAR:3661587 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce5413be-e69a-4707-8d29-3eb7025043f0 CAID:CA367401307 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 56b6880c-8e0a-46c7-bc0a-f3589cce0111 CAID:CA367401307 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af0fc1b2-2873-41b8-8e1d-6546eb2f526c CLINVAR:1933344 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fce3f9ef-55f7-414a-be2c-328b8a45d7bd CLINVAR:1933344 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9030cd33-a886-47ef-b95e-ae5c4f2fcf0c CLINVAR:1679547 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a4311164-96fd-4deb-b283-194c99ef9740 CLINVAR:1679547 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce172c43-4b36-4343-8256-646de46ced10 CAID:CA409110474 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec53e919-d22c-4806-8973-22ca2e465b88 CAID:CA409110474 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce8b2198-6432-4f51-ae62-6d6dabcbe528 CLINVAR:3664830 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6398ec89-211f-4112-89fb-d4df785f0a92 CLINVAR:3664830 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4330938-55fd-43b8-9e5a-4ea8c9a5612c CAID:CA3250171760 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f39530ba-bca5-4d21-90be-fcede5171304 CAID:CA3250171760 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aec48c3b-8913-40ba-b55f-2e5d8c3e903f CLINVAR:68535 biolink:causes MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e725a0fb-0d95-4bf3-9c13-04851898fafb CLINVAR:68535 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03972c90-b043-4465-a017-31a03ea70721 CAID:CA349071276 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 164e0df7-0d40-44c7-a4f6-216603291cdf CAID:CA349071276 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 560399e4-5a15-4193-ab34-4d975e45d4db CLINVAR:4079962 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 746f134f-2540-4e97-a52d-8d8f495b2bc8 CLINVAR:4079962 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfd1509d-7fd8-4910-af5f-96605e12e729 CLINVAR:68667 biolink:genetically_associated_with MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65b09532-1aa8-41c6-86b0-5636730a71ed CLINVAR:68667 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa02d613-af21-42f4-badc-d1e8f4a2ae6f CAID:CA349065650 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7062e1f3-a360-4bb0-8e41-2b71f2b6c0d4 CAID:CA349065650 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63ecc0e7-64a6-477e-ae9a-a66d8310abf3 CLINVAR:189965 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1fedf8d-1432-45bc-9e3e-c42112adc30b CLINVAR:189965 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c77db5c7-1b57-4079-bd2e-ae5c82172591 CLINVAR:646111 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9744a2fc-698e-4af5-a488-85a06ed6d845 CLINVAR:646111 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61f7e525-a3d1-4786-aaee-aaa7cc350a0f CLINVAR:1171040 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e8857e29-a20a-43f9-8467-b008c894906a CLINVAR:1171040 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 179ca126-377d-421b-8406-9a44e99debcb CLINVAR:1454181 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14437b05-958a-4eca-ac3b-9f05b5b71bb8 CLINVAR:1454181 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e6e3192-3f38-4d4f-881f-d9dba3133ca0 CLINVAR:375836 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f9b8cea-ffb6-4920-89e8-4b198c2d4439 CLINVAR:375836 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc441184-7737-4200-8ef9-b1bdc483d969 CLINVAR:440532 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 143d695e-5469-44a9-99bb-af08c5051440 CLINVAR:440532 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e04a54d7-ddfb-4bc6-9e18-9bf7eae2f320 CLINVAR:265904 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eca71e3c-d016-4dc7-af8f-aa9ee75d078b CLINVAR:265904 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c8b708e-5421-42ab-82ca-737ee6606454 CLINVAR:440616 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4288067e-2cf1-4d80-9145-b5137658d70c CLINVAR:440616 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1101470a-60fa-457e-a804-9ba43e741f20 CLINVAR:251371 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4667504-996e-46c5-bbb8-7d791830c2ee CLINVAR:251371 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aee2398b-7316-4c0f-94b9-8c62facab07c CLINVAR:440656 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ae57a2d4-ca1a-4ee8-a0bf-d83a1330692d CLINVAR:440656 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e31a790-5903-4c46-bdf8-559b8fb6fa6a CLINVAR:440551 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a343714a-1e52-4846-9a22-60820b670b69 CLINVAR:440551 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 174a11b9-42a7-436f-8b1a-5161d314b633 CLINVAR:1958 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31e35d7d-5617-4f73-9788-9f6d386ec56d CLINVAR:1958 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7114f48-a31d-4c74-9424-a88ba7a82def CLINVAR:10025 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a0ec0ac-e793-45e0-b811-49360f88af58 CLINVAR:10025 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04969a75-d9c0-42be-9ac1-313b503a46c4 CLINVAR:1045150 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89de4bd2-2743-4beb-95d6-d012cc0a973b CLINVAR:1045150 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad393dca-1a45-463a-a1c0-6ca4a4fccc54 CLINVAR:1322957 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce6ddf24-5105-48e2-9710-8e3b82dae3ba CLINVAR:1322957 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 503039f0-13fa-42de-9c4e-54a86d92c8dd CLINVAR:1687091 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a07398ec-7efc-48d4-9b9e-93cb022e9d7a CLINVAR:1687091 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd7f610e-336b-4148-a8aa-fef52dd70bdd CLINVAR:554593 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d582aa4-2894-456c-83a1-3b2d02b7f463 CLINVAR:554593 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c88a1ffd-82fb-40bc-98ec-7bc32a606874 CLINVAR:3639714 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 171e96fc-6b06-4271-bb5a-7316b7f7f40d CLINVAR:3639714 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75e5557c-5ee1-4f06-bd2b-4940af534a01 CLINVAR:553029 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 215aa7a4-3837-4a17-af3c-5da5184953f6 CLINVAR:553029 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19c39f59-f55b-4a1b-a284-a0b35f4e4c6f CAID:CA355961926 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fff34974-1536-4d2a-929c-254958ed50b7 CAID:CA355961926 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6362edda-d400-48cf-ad32-5fedddba3dc2 CLINVAR:1076378 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 473e0821-3eb9-4831-810f-8ea3e54309c1 CLINVAR:1076378 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a15dec4-218c-4e63-935e-71f7fbebdf01 CLINVAR:2145829 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f3624fd-5f79-43e6-b0cc-15f39f65fb70 CLINVAR:2145829 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed6376f2-4b12-46d2-ad9a-18671686e582 CLINVAR:2184620 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 906dc5de-9b99-4c7f-8fc2-d5458a0c7d6d CLINVAR:2184620 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dca41a1-cc71-40d0-a37c-d7599157c19f CLINVAR:638077 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68fa012c-d004-46ce-a95a-f794cc77964d CLINVAR:638077 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b570694-f190-4774-88e9-899c1f00c8a3 CLINVAR:1328979 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4177ec01-b386-4fc2-90ab-cc251a16d1ba CLINVAR:1328979 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dc48b30-4cea-4326-b912-f5f0be0556fc CAID:CA658760370 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80513211-b813-41e5-bd5b-84cbcf15e9cd CAID:CA658760370 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1006b2d-c756-4209-9fe5-d84fc86979a5 CAID:CA397317465 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d1d0264-563b-4b63-a79a-902163db614d CAID:CA397317465 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbcdd83f-725a-40f0-911e-bb2f05b92ba4 CLINVAR:1031446 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f4282716-4a54-4c72-a9cb-d48a72334be0 CLINVAR:1031446 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0086ce96-f816-42f3-be53-1e2548279277 CAID:CA658820739 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10c723e9-07c7-41c0-a950-a77f4d03ffc5 CAID:CA658820739 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5af78c3f-8ce6-4719-b5ae-60f3a1c0fd4b CAID:CA3250151382 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39f7b43a-8c9b-43fd-965b-0da18198db8a CAID:CA3250151382 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2386ec52-af86-4cfb-9f5d-031c93321abb CAID:CA2580611803 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c6033e89-9e2e-4216-bd54-b28bf8797e61 CAID:CA2580611803 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af367b0f-bb26-4039-bfd2-0a69a41a0cd7 CAID:CA410677368 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c2e7d7a-73d9-4375-bd8a-8ee4cd8f79e1 CAID:CA410677368 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3014d40a-80a6-479e-9463-09920c6fc685 CLINVAR:1691233 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c76eb9ae-0e12-4f1a-a02e-a0c80b717156 CLINVAR:1691233 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e022dad-da46-469d-9c9b-6e3dfe58fdb0 CAID:CA354447595 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d862df05-b05c-4707-b45c-0aec19145f0d CAID:CA354447595 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d5dfa21-d33d-49b1-98a2-c9dede3b0329 CAID:CA354447724 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08b720c0-575d-4e0c-a7a7-aaab83c163b9 CAID:CA354447724 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d038f9de-0352-4234-874a-4cc37b4ec1dd CAID:CA354448412 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d48e296-23e4-4030-a9c3-6b9a1e0deced CAID:CA354448412 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44b8dbeb-9551-4715-81bb-90a93991a4e1 CLINVAR:1683228 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9692b4f-e390-4b87-be32-e7e6b6fada00 CLINVAR:1683228 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b21ffed2-36fa-4316-b4f8-396a79d49ad4 CAID:CA2586965987 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 25853ee7-7012-474e-bca7-914074ed2456 CAID:CA2586965987 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af200e40-29de-4e8f-a70c-ccadc8d48780 CAID:CA2586965989 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab162b38-10db-4fe6-9413-1af2d054c581 CAID:CA2586965989 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 287cb208-b752-4d3c-b1d6-3453f24fd07e CAID:CA355963142 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 502ae372-0f1d-4b8d-887c-3780a30aa941 CAID:CA355963142 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff64d875-12d0-4024-ac22-045c920cd744 CLINVAR:2577224 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb432fa1-a75c-45b6-9675-ea3a225a4538 CLINVAR:2577224 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5952abe3-4277-4302-8677-d4ad087a4737 CAID:CA414915827 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f548b22-7b82-4a35-82d7-b717a2cd8cb6 CAID:CA414915827 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff34fbdf-4f91-4021-9a79-55e60b8f27ed CLINVAR:826488 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38f7184c-3cdc-41e7-a70f-e6f17efe0181 CLINVAR:826488 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8109cae1-ca10-437a-8c57-3df25018b2cf CLINVAR:824232 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4435ef60-dfd5-4098-afcf-5180be3b0e5b CLINVAR:824232 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f321534-103b-42db-b287-6afcb01327f5 CLINVAR:422414 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3644b76a-eed7-4722-8c2c-f2fab07936ec CLINVAR:422414 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57e11281-1def-425d-b608-21f96856421b CLINVAR:2758378 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce4bb7db-1be2-46cb-9063-571838f64559 CLINVAR:2758378 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79e6849b-1f76-42f9-a968-a29724e5cd29 CLINVAR:376633 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f039f961-74c6-4dae-bc54-789d8a595881 CLINVAR:376633 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53445147-603a-4b5e-a5d8-dfcc99355b05 CLINVAR:551723 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 37f7f10d-7a24-45e1-b239-f9173888c44f CLINVAR:551723 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78179107-2057-4e48-805d-2b48a69ed716 CLINVAR:208611 biolink:causes MONDO:0009677 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5307c546-d991-4ed7-b87a-4118d3c4d38a CLINVAR:208611 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b24ea2c4-4a9c-4ece-bb35-4a1d554edb05 CLINVAR:94305 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e315a59c-7798-4902-8b08-f87210ccdb44 CLINVAR:94305 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f4ae683-4759-4149-8816-4c323c24bdff CLINVAR:195748 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13e6e73c-7087-44f6-a1a2-b4bbb174b4c4 CLINVAR:195748 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f536ff61-4cde-4ff1-ac16-154d7d5ac612 CLINVAR:496979 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71b879e6-d028-4bef-8c81-dbaa80d17007 CLINVAR:496979 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ad23d3d-d1c4-4850-a007-756942620c1b CLINVAR:288397 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d70eb91-2723-4f25-9108-19b2a52e9bff CLINVAR:288397 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 129bdd17-bb55-4583-a75d-a4f2a58a315e CLINVAR:2441135 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 040ddea9-efa6-4922-935b-8089906a7392 CLINVAR:2441135 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54cc3130-ba03-406f-ab05-e5b0471f024d CLINVAR:217149 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 73ae948e-04a8-4e9e-b5c6-2ca936476cf0 CLINVAR:217149 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56e7158f-2d80-464d-8b84-f34162cd89f3 CLINVAR:96679 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94e96364-3494-4fc1-97db-5c9f12f389a0 CLINVAR:96679 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e52fb376-4ab8-4255-816e-307b4ef43d10 CLINVAR:813969 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77c0f750-3116-431b-b089-175246cb5224 CLINVAR:813969 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e87041a8-7d27-443b-84e5-a67551e9b963 CLINVAR:281140 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen efa8217f-6106-4c1b-8fcf-00200a165be9 CLINVAR:281140 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06d55105-4fd8-4b30-b8ae-8e1744b89364 CLINVAR:198495 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen edc8c49a-7736-4295-ab89-e139268c9123 CLINVAR:198495 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ee47099-0b71-4f96-b329-a83909881594 CLINVAR:2441119 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6ec24b1d-236c-4830-aca7-b73d9dd770f9 CLINVAR:2441119 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60bc0e63-8078-432f-a1ab-7a2723c4a086 CLINVAR:288183 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen edca62e0-76d9-4c32-97ed-e9c707081020 CLINVAR:288183 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7f70b6f-14e0-4a11-addf-bbc022aa6284 CLINVAR:281954 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 55d6e258-a8ab-4acc-95b2-2db44438a4e3 CLINVAR:281954 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7565bd45-9cc1-401d-bf66-f6edd978c1b5 CLINVAR:545663 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb220bed-47d4-4ca0-9293-da4c94d30d60 CLINVAR:545663 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a18edf5-ad26-4c27-8ffc-e1faa34a1ef7 CAID:CA2586964930 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 674eae20-9385-4da9-ba4c-af92b0a144a9 CAID:CA2586964930 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d30610d9-47e9-4c80-a736-33bc1e261069 CLINVAR:545009 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa115e65-74a7-42d1-8172-573e25ab472d CLINVAR:545009 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3119e8f7-324e-430b-97ab-8bf3da023bdf CLINVAR:288442 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3e70338-0b3b-480b-82c4-ab790bc87be4 CLINVAR:288442 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 219f9ae8-25f8-4de1-a774-f6bbcd85241f CLINVAR:551236 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e75dba23-2481-4b57-9eb5-db44b9b5969c CLINVAR:551236 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dd1b628-7272-4741-a87d-3a7acaf09e1a CLINVAR:196175 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 178f2c5c-3f83-4f94-8d62-58cffe4435f9 CLINVAR:196175 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a97e3a4a-240a-4fb3-a84d-3f4ced6b383e CLINVAR:4067072 biolink:causes MONDO:0016971 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen abfd80ae-3b4c-4f0b-9534-f21d368262bc CLINVAR:4067072 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2968f68-d71b-47cb-a871-f4aebd4b36d4 CLINVAR:94303 biolink:causes MONDO:0016971 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 969b77eb-870e-4647-9c42-679f3e569b76 CLINVAR:94303 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28c8c793-111a-4679-b81e-5ae55396a043 CLINVAR:282449 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3341766c-d09f-4fb0-b658-3405cb76b33d CLINVAR:282449 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4433b241-43c1-4aa3-b0d9-bd38103ddb1c CLINVAR:6676 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3155a3a9-238b-48dc-8ccb-d51247e851ef CLINVAR:6676 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22285235-fdcb-4660-a076-6b2d67bdd23e CLINVAR:2441144 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8fdd717-f22f-4d91-a6c9-c5c94fbc407c CLINVAR:2441144 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cd67194-3269-46f6-819b-b9670fd638d4 CLINVAR:498954 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 115d6fce-c87c-4020-97f8-0857bb4040c4 CLINVAR:498954 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2acffff6-6d95-45ca-acf0-c39fb1b1b2a8 CLINVAR:1521979 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 047d2627-7d0d-4b79-9c1d-afb6663baa7b CLINVAR:1521979 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 307ce0e7-aa31-4cc4-9402-b2870e34ea34 CLINVAR:658470 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb55d1b3-4acf-403c-9d1c-34fa866f4ee6 CLINVAR:658470 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d41363e2-4653-40f8-b629-bf4aa9578810 CLINVAR:288830 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 244eb3ac-2357-42ed-8da2-bbf3938fb790 CLINVAR:288830 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f846f175-4907-4d2e-a244-e34155ecb87f CLINVAR:2674972 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7088d981-0850-4fdc-ba3e-f9c26f513df1 CLINVAR:2674972 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f84b33cf-7960-490f-b57e-34532eb3d0c0 CLINVAR:242527 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3fff9d54-cf63-44a8-a5cb-3994ac72629d CLINVAR:242527 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18480fe9-b92c-478a-8f25-2a5c89e68516 CLINVAR:567124 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac7d6afc-1e3b-4d0a-ba02-838bd139144e CLINVAR:567124 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6887772-6a4b-4765-9459-f22c27849b0d CAID:CA347220971 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 943e9f05-a852-4224-8185-f3567ae7a9ad CAID:CA347220971 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9399f48f-09f5-403c-b707-767ecf936777 CLINVAR:94336 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2dd98d41-5eee-4f10-a694-212203a8739a CLINVAR:94336 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b9c5aba-3d4d-41f9-8c77-018a54c80c74 CLINVAR:283243 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8189eed-cbb0-4f8b-a1cb-e3d122caaac5 CLINVAR:283243 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5145bff7-2e6b-425d-81b2-7d4c9323c211 CLINVAR:284471 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34671c1c-9ac4-4946-ae1c-c4e497048621 CLINVAR:284471 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 516b0aa7-1f92-4a0f-8b30-5fab90cf5605 CLINVAR:283475 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 48a801b6-8e10-4311-981e-00004d939a12 CLINVAR:283475 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beac5ff0-075a-459e-9908-dc26492a294a CLINVAR:858838 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24c1cd00-895e-432f-9793-6570aeace17c CLINVAR:858838 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd516f89-03cc-4e64-b3cd-b07ca74e35e8 CLINVAR:17614 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c18a7303-2565-49b8-bcb7-6a558afc1f4e CLINVAR:17614 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2874746d-2881-4ad5-8dc1-10826c49a3b7 CLINVAR:551477 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f0a6538-60d2-4105-a9c2-2e6ae3559646 CLINVAR:551477 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 798856ec-9674-4035-874a-4c6e4a284ba6 CLINVAR:871348 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5cdea4ca-e225-4118-81bc-6f43d3a8fe0a CLINVAR:871348 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53a65057-5bb9-4e58-9855-7f9161294002 CLINVAR:2163 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84dd1208-18e9-4956-a0ac-4602e10e84e0 CLINVAR:2163 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cd40a07-5b5e-44b4-93ae-7f2cfc623434 CLINVAR:280038 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5eed67d-3012-42a6-b4db-d4df9bcae54c CLINVAR:280038 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73edaf66-bfde-4bf4-9ed6-472701a4cdd1 CLINVAR:1491619 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ecdcd801-df4b-4d55-a702-38ad62182551 CLINVAR:1491619 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70caecb4-9a0b-46f1-bf0b-f5111ab336f1 CLINVAR:597829 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2230f7e3-a1cb-4736-b5a0-59ae7c260541 CLINVAR:597829 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e926a4aa-7273-4880-a7cf-88c3d8f783b7 CAID:CA343724244 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62a7f00d-5a66-4827-9b5e-2f96d06726ac CAID:CA343724244 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31700673-6275-40df-a321-f47afb7e2fca CAID:CA2649105995 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57472ab3-0326-4450-96ef-37f95a4d9ce4 CAID:CA2649105995 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68780789-046f-4722-82e4-3438421f0f9e CLINVAR:99343 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d864312-c9f2-4db1-9edc-32b0d41cccc8 CLINVAR:99343 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 088cb875-a16a-489b-9551-8a4c1119302d CLINVAR:99476 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 19e8c01b-0ef7-4bce-b08a-52623b6051f5 CLINVAR:99476 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16927977-08c6-4007-82b8-e26d91a93040 CLINVAR:650634 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78c5d211-6ccf-4df3-abeb-7badbf64c913 CLINVAR:650634 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3256867-24c0-4ebc-a3d1-b50a5f29b67b CLINVAR:501312 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8970ddc2-4300-4423-83e6-4eab9aaf86b1 CLINVAR:501312 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2e03430-5c33-4fae-a59a-4ff4d5eb8012 CLINVAR:14210 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd963dfd-f525-4d2d-9209-4bb2fb8a10c5 CLINVAR:14210 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 686a3d19-2e84-4a83-bce5-b69d33951732 CLINVAR:1683999 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 98ae2563-2881-42a6-8135-f4091379bc57 CLINVAR:1683999 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 536d2b12-ff75-413c-9fcc-b17ce58e68b2 CAID:CA2580612114 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18cb16e6-a690-4f16-92e6-b2b27759f380 CAID:CA2580612114 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a894ecd8-1f2f-4794-ba6c-57761f61f05e CLINVAR:585928 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d4d7b6c-6f70-48a1-812e-b64593a55fb5 CLINVAR:585928 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4864411e-14f0-4d4e-89b1-1a9007a16af8 CLINVAR:3766052 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e51b6497-d482-4bb5-939a-4d6e04895b5a CLINVAR:3766052 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6397eba4-5307-493b-ac35-5f80f0b26209 CLINVAR:2136531 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42b5bafb-0b4c-4d88-a70b-e3cdc7ee3003 CLINVAR:2136531 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4da21f84-0628-433e-9db9-e3ed5b9ac309 CLINVAR:447422 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d6cb6fd-cc4a-4f67-93de-bbc0b6a52d16 CLINVAR:447422 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a284dca-e350-491a-a2df-11fd49b260f6 CLINVAR:1720715 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c46256ee-a21a-444d-a7d5-ffa66fda468b CLINVAR:1720715 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ae3a842-1dae-4099-9a89-f3f514b5c09c CLINVAR:2202780 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c6255a1d-e221-48ae-8ac7-bf1d93edda9f CLINVAR:2202780 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 398dd0c0-7921-4f7c-bb8c-5cf2a4bd8457 CLINVAR:2202779 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad83b32a-bacd-426e-ab38-98e0d87536fc CLINVAR:2202779 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34c1053b-5810-4b5c-920a-1ab7c52e3abd CLINVAR:1048145 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38d6debe-3c72-426c-ae3c-e1dd6f4a3c26 CLINVAR:1048145 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74d49a7a-794b-4a15-9165-470032f922ea CLINVAR:99472 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d8cf9a7-8026-4079-8e28-7fe1eb0cc7d9 CLINVAR:99472 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4857c67-5221-4062-a53c-ffea170a45c1 CLINVAR:1457683 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3492cfef-e491-4354-9a20-fbdcf8b516cf CLINVAR:1457683 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b601e0c-d478-42e2-b03a-a0a99a3ff2d1 CLINVAR:1999524 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 580faad7-8de5-4353-83ea-f6cffdf11237 CLINVAR:1999524 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 691e2b44-01f8-4878-b3a0-73b4613dea01 CLINVAR:99428 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5e60444-96c6-4c15-a69e-1638ded5026e CLINVAR:99428 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79a42795-9d4f-4cc2-a202-1715d4ef0d99 CLINVAR:18029 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e1efaf7-e577-483e-a479-6be968e6db70 CLINVAR:18029 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 958e4681-c3ef-4282-9210-ef845ecd5c29 CLINVAR:2429353 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e98b31b8-4b3b-4e5c-9e34-6eade51da4d2 CLINVAR:2429353 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74751ffb-1f9c-4120-bc6d-2ba0bff06e3e CLINVAR:18041 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fd8314a-bb46-4e7d-8a6a-a17439dee0ce CLINVAR:18041 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec1f3b27-2c75-4a1d-8540-c3e30d11b524 CLINVAR:18023 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53b5d8d3-c62f-4450-b83c-46244397976e CLINVAR:18023 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0fe9f62-1344-4c1c-b4da-44b631a9d082 CLINVAR:1028786 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f30d462-84a0-48f0-bcdb-22b7a947d7f6 CLINVAR:1028786 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f4c696b-06ea-469a-ae4c-44846d1ab6dd CLINVAR:661362 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e25b3a77-6f1d-450a-94f4-fa90dc4b79b8 CLINVAR:661362 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af62247e-82d6-46a1-80ca-e14bd5aacf17 CLINVAR:618107 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f27657fa-a79a-42cf-a45d-7344453e6d95 CLINVAR:618107 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fb5cc49-3ce9-46d7-875f-c673d502d4cf CLINVAR:627155 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc4ffc74-b217-45c3-ab36-1356675a8e24 CLINVAR:627155 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ace25f7e-db23-4721-8c2f-76be9ecc44ae CLINVAR:102486 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23bfdab6-3c2e-41e9-b7bb-cb6f29071a14 CLINVAR:102486 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90034deb-7ee4-423c-985c-43719fc993c4 CLINVAR:458078 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 381e7b92-ef08-49b7-a575-9f394a1415ec CLINVAR:458078 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1ecb152-41b2-48c6-ae8a-49a11717832d CLINVAR:590456 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 41f06e60-c157-4f5c-b0fc-ac940110f466 CLINVAR:590456 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab0e235b-0f52-4a91-8bd2-a133da8c0e4e CAID:CA2584893460 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 234f8cc2-111c-4aa2-b97c-ab6ed7d89059 CAID:CA2584893460 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc2e4bde-31bb-449d-a4b7-c001761cf03e CLINVAR:2903463 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c899b15-f4f1-45a2-9f64-677a877a5ace CLINVAR:2903463 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb66b061-bdc0-4f42-ba03-9ecd69f6ce28 CLINVAR:557150 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 813700a2-60a9-4220-acc5-8e206675e320 CLINVAR:557150 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc67db5a-d30c-4d7c-bc0b-c0836d9f7faf CLINVAR:556156 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 13399d50-c8b7-4cf2-aa94-65dac00d87cb CLINVAR:556156 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen deee572a-1072-494d-bcb9-efa0924ef130 CLINVAR:1076379 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e720772f-ce44-4541-bd20-ad7f188e4c4a CLINVAR:1076379 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0019618c-014e-48f5-8054-c62cc759f374 CLINVAR:554213 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f87b9a5a-7c3a-4178-9184-affe110551ce CLINVAR:554213 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f64a6bc8-0e61-4683-9dfe-bf841eec1c92 CLINVAR:550458 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 71650ca0-b54f-4574-9c07-9afcf46b5b1f CLINVAR:550458 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7da0ec4f-5b58-4e10-9345-e393a7012599 CLINVAR:556184 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa21ddbe-a0c9-4885-a0f1-e545e3869f5d CLINVAR:556184 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 481dba60-0038-4df1-a395-8f43543de298 CLINVAR:440660 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b867f142-0780-4d64-90ea-474c48ebf45b CLINVAR:440660 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5c6ab37-327c-4ea2-a2a7-1c628a28df4c CLINVAR:440604 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65c302b5-965f-4e12-a25c-526471bbd24f CLINVAR:440604 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96347664-0270-42f1-bd40-cee85bf9140a CAID:CA3050953909 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e937a2c-ea07-498b-98ad-8a008158ee8c CAID:CA3050953909 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f12b2714-13ec-43bd-9f55-2f5e22d29ced CAID:CA8314879 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bd6cbcb1-921a-4fbe-9ae8-72a5960817b6 CAID:CA8314879 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b63c97c-dc5b-4886-a9f3-98f180f67525 CLINVAR:4151 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eea32e02-3371-4624-9c1f-1d7bc526006f CLINVAR:4151 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c5823b3-1bfe-4354-9de5-48db517a872a CAID:CA2580610935 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 45cefcfb-45a3-4f1e-9ede-ae7e4c6a96a7 CAID:CA2580610935 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28cbd6de-432c-4bfd-8d17-3b7255bac45d CLINVAR:993015 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68a733db-c7e2-42ff-8e41-7443346da93c CLINVAR:993015 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46b6425f-4b1f-49f5-9840-bb3d60871c3d CAID:CA354450038 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 90b849bc-5ad3-460a-95a7-79081cef536f CAID:CA354450038 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cff0f39-2a8e-4ea0-be69-90497a127dd3 CLINVAR:627039 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c5f5d83e-95e8-4788-ad67-eeaf9c0303f2 CLINVAR:627039 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c96ee19-7853-4ba6-979b-e5b550be22dd CLINVAR:13531 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9363861-86c8-4ed3-9bb0-10fcab51f2ee CLINVAR:13531 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71018176-f3d3-465f-8322-80deb8a506ae CLINVAR:4687494 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3806fcce-d35f-4e2d-8b3c-0367c253c652 CLINVAR:4687494 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94ac3150-b7bd-4a54-b68b-e7df2bb026da CLINVAR:52448 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f841c478-9f1c-450a-a605-2823639cdfd6 CLINVAR:52448 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e54ee8f-8d79-45ec-a6c1-d29758212036 CLINVAR:55433 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b06505dd-18d4-446c-a4a2-28741d672e39 CLINVAR:55433 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49924089-08bc-4c46-b68d-d6f6f59c5c4c CLINVAR:232793 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 241686fb-feb3-4bfb-af03-dedef71a7d04 CLINVAR:232793 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbeee272-7454-498c-990a-4cc695044b3b CLINVAR:3723841 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c7f3b69-5072-4540-ac3b-f9cdfce0096f CLINVAR:3723841 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a70e792-6d89-4b52-b06d-f287331059bb CLINVAR:36227 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24d457c6-7b70-4495-9a8a-c982989cea07 CLINVAR:36227 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a92aef66-3478-4361-a829-94f9c038409c CAID:CA367401653 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e6c8c422-13d9-401d-b6ef-911b23af7f98 CAID:CA367401653 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87d7d6c0-ca32-472a-958c-55b99f232622 CAID:CA367401649 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d53a145-ad58-4245-b88b-1a9d1b3208c9 CAID:CA367401649 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d96f70f1-c366-4305-96e8-9e2a75b1ea69 CLINVAR:972809 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 228352df-01ab-45a1-aa45-5d3878c77123 CLINVAR:972809 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bead50df-d3a5-4c53-aa69-bf23519bd58b CAID:CA4239675 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 415b103f-4bf9-4d94-a741-d089566f731f CAID:CA4239675 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c55855c-602e-4678-857d-4279aeae2821 CLINVAR:447402 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51b72c95-9620-41fb-96b7-18e316c65f54 CLINVAR:447402 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf6bb7ea-54e7-4554-baeb-3127f7569066 CLINVAR:418448 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1bd9dbd5-9860-4b98-af41-1a684547d43a CLINVAR:418448 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d978c3b-bc24-4ca3-bb75-18f0da993571 CLINVAR:2709658 biolink:genetically_associated_with MONDO:0015974 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b363476-2f5f-4189-bece-ec4d6977efc3 CLINVAR:2709658 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbc46d60-42bd-44e4-8c6a-7f614ddf6f04 CLINVAR:1005573 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ecf37b4f-1a7b-4cfe-a9f8-34224b07a492 CLINVAR:1005573 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 517e815a-c3bb-4b11-9c3b-2d103d5a7946 CLINVAR:65979 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 32073d30-7219-46bc-99cb-0bae447ccbdc CLINVAR:65979 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e80c903-11db-4ff7-bebb-26c0cbfb6d97 CLINVAR:329073 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef342d38-1021-4323-aa68-0d4b241822c1 CLINVAR:329073 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87a9438c-df0e-474e-9d1d-4ddbd4d8c245 CLINVAR:2035105 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e8b078b-47c8-43f8-95d9-c6eda7c6e981 CLINVAR:2035105 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16902dce-4fde-4db2-be8d-39d6d5d976f1 CLINVAR:2865406 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c27b776-aa8d-4e4c-912e-62a9bf64253e CLINVAR:2865406 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f727fd5d-4cf3-4af4-a024-e341f767a107 CLINVAR:99219 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36c7bb0d-5028-4c81-9397-a540370770f8 CLINVAR:99219 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d923505a-3f31-4d2a-a097-8c32688adcf5 CLINVAR:866229 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e13d246-6374-497a-bd0a-419931827f87 CLINVAR:866229 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97c669a8-a583-4b6e-b116-32ad41afbab7 CLINVAR:1639209 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51affc39-4cab-4916-9c52-991f0f305845 CLINVAR:1639209 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8550d654-2667-4022-ba2b-1b28fedd2100 CLINVAR:236129 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 499a990c-5df5-4bdc-93b9-2e2481880ca9 CLINVAR:236129 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7690f18f-5d42-42f6-bac0-5d24917da17c CLINVAR:2664262 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed4d95b4-f804-4eaf-b88c-96a7b1a5b27f CLINVAR:2664262 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a70603f5-0d71-44c7-8f09-745f69f627d6 CLINVAR:2151916 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e533af1b-735b-455e-bd3b-06f812bf95f5 CLINVAR:2151916 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f801a901-c32c-4c4f-8393-04030f04baed CLINVAR:133098 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 957475b8-3792-4a9a-b42f-6c64c1ee7931 CLINVAR:133098 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8263d0e-fe18-48db-82c0-cf033240d4d2 CLINVAR:2440386 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03a3e00e-11da-4d7d-b959-3fdf753525ac CLINVAR:2440386 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba94442b-34c7-4427-83dd-a866d0f7efc6 CLINVAR:52999 biolink:causes MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5fcc9e0-be5f-41cb-9bdc-9fc4c8c7bde4 CLINVAR:52999 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d2bfb6d-4781-481c-a347-0b8785954189 CLINVAR:517664 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52b80aca-3b82-47b5-a6a7-149d9830371d CLINVAR:517664 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 411ef3d5-f3ee-451e-824a-65df18ac134d CLINVAR:635221 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b6b40abc-1d04-47a8-b1be-7a1fb12d4d79 CLINVAR:635221 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d52cd49f-7232-4b16-9ba4-13498ea934d8 CLINVAR:53101 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a333dd3c-84fc-463b-bc10-7fa30cd33ab3 CLINVAR:53101 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 440b0ef6-505d-4e7f-9267-54ff9876c9f1 CLINVAR:67087 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8ab7639-00c4-48f0-98bd-062eba36af1c CLINVAR:67087 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bf93f59-0949-4727-aa66-a31107bc5a72 CLINVAR:52936 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a216a9ca-a1a9-4671-8b13-5cbcd491257c CLINVAR:52936 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86a73fa1-8d1d-4a09-83c9-860ad14780d3 CLINVAR:44587 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec684c5d-1c3a-4a6f-b443-40550192526d CLINVAR:44587 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1eb9f61c-3a26-4641-b09f-84193d69d66a CLINVAR:1723651 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d9347a8e-ccb1-4421-ba23-7e29bc3975d7 CLINVAR:1723651 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 984d0b63-b8d6-4d12-aee1-b0cfbcd60d03 CLINVAR:13343 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd00b7a8-2cc3-4267-8fd5-bc9edaf3404d CLINVAR:13343 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 428fb3dd-c2cf-433e-aede-4e6e0b250c90 CLINVAR:13342 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34245878-0574-4c04-91d0-7dd1bee96561 CLINVAR:13342 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0877e08f-95bf-437a-9982-7de8ede6e89a CLINVAR:560190 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 940280b4-8d1a-452e-8068-27955e7c1078 CLINVAR:560190 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb808958-d785-4069-bdbc-8e870744d34c CLINVAR:2229884 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b53fe48c-ad35-4bd0-b07c-f9f3eb20f9f2 CLINVAR:2229884 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cd48856-a147-49cf-9c8e-5ce62bb8748e CAID:CA2580612246 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d126cb72-4d32-461b-86ee-017882937433 CAID:CA2580612246 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d48334ee-a01a-44bd-912a-7bd625b2d0f1 CAID:CA410676362 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a34baf54-62a8-4e40-b41d-f6778500d8ec CAID:CA410676362 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fd9a83b-f486-4a59-b916-687b23f33262 CAID:CA2695224137 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d4f1f7a-c3e0-4bf4-a38f-24a6daab7969 CAID:CA2695224137 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79113f05-7311-4418-b519-033de300cfdd CAID:CA410676379 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e06a42a-01a6-4048-a51a-3d3f817e1566 CAID:CA410676379 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19adb6e0-f605-4e0b-88c9-5a3ee968f810 CAID:CA410676935 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c70fcd74-ecd4-46de-b650-b3b3109399d2 CAID:CA410676935 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7d42ac7-7869-4640-8278-21b362d0b9a7 CAID:CA410676943 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed32f235-4bee-4437-abdf-e0d14edfca5b CAID:CA410676943 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c0fd6b0-114a-4961-a7e4-c3f307a702ae CAID:CA410677044 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc770496-630c-4c97-98e4-c9cbffa0b113 CAID:CA410677044 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9665d66e-30cd-4776-a3a9-a368106089e6 CAID:CA354447926 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7cc7c438-6f9f-4415-9935-b1d77463aeca CAID:CA354447926 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7dd7421-ea43-4d8a-80d3-637561ef6ad4 CAID:CA8314714 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac435459-7a8a-4012-8529-c3b7d7a72f21 CAID:CA8314714 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1589686-b4ab-44c5-ba8c-bf748b65d189 CLINVAR:2570683 biolink:causes MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88482874-a05b-4a79-a37d-2e03e35f383e CLINVAR:2570683 biolink:is_sequence_variant_of HGNC:10590 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16509c48-2605-4607-bc6e-c7851f8b13f4 CLINVAR:1330694 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17eea6df-c07d-41a6-b868-456fa9e8a7a5 CLINVAR:1330694 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ab6218a-20eb-445f-b7f0-15e595d5a962 CLINVAR:993126 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6656a6ea-610e-421e-9130-9b6e2436ee44 CLINVAR:993126 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e140bf4-38d4-4793-ad5e-04260ffddbeb CLINVAR:801294 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e272b7a8-d8e9-4adb-9d78-30890f33f180 CLINVAR:801294 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10ae4aa2-56ba-44a6-8dbd-68654dc7c830 CLINVAR:36294 biolink:genetically_associated_with MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fccf21b9-4386-4530-b203-7a28375ad9bb CLINVAR:36294 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3147271-7e77-448c-af68-43392406c2b8 CLINVAR:869245 biolink:genetically_associated_with MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18350bb6-a275-4bb8-96f8-c51c01f68f86 CLINVAR:869245 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9852b49-56a1-4d38-b992-b2e744b00e28 CLINVAR:15447 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 473343ef-8ecd-40d5-9817-ebbc4bbfb9e9 CLINVAR:15447 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa1c5dc6-339f-4d79-884b-3a259a8f7a04 CLINVAR:15488 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f4edc5d-6781-4bd7-b6ef-5458c80316a8 CLINVAR:15488 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dfe1aba-d0f0-47b7-85b4-e5323340c95c CLINVAR:15401 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1dac941-57f6-4694-a023-b1840bf8695c CLINVAR:15401 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 531d4389-bfa4-4e0a-815a-2a206b317523 CLINVAR:799593 biolink:genetically_associated_with MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89fcefc7-9bce-48a0-a004-db3954132113 CLINVAR:799593 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9ce5eaa-57a5-4a66-b79b-ce265474a17c CLINVAR:36312 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ae9ffde-d17f-4432-a679-161b52991f8b CLINVAR:36312 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 429431ad-272e-482c-9d9b-67e2ac892c84 CLINVAR:15464 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24110043-4cd0-42c6-9a89-ab7233aae590 CLINVAR:15464 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29128eec-7d6d-4e2a-a4b5-b52856f347d7 CLINVAR:15458 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08cad3f0-8a4d-40df-966f-6916fd70b9d1 CLINVAR:15458 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ae27237-4c25-49f0-a24f-575ded19816a CLINVAR:15483 biolink:genetically_associated_with MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b1cb819-7fb9-4cf2-8562-7b4cf24439c5 CLINVAR:15483 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dc05d5f-349c-4929-bb07-497da403070e CLINVAR:15457 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 617a3cd1-7ded-4fc5-b700-2bb3499bc1da CLINVAR:15457 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ec703c4-ab95-40a9-a88e-e4f6d02a3051 CLINVAR:15454 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 70373aab-041e-4e6c-a4a6-41c8211f8182 CLINVAR:15454 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efb6f27e-02be-474b-bb6c-b8ee77586e0d CLINVAR:15405 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6cf1a7a6-aeb0-4543-8806-f6c448b6ef66 CLINVAR:15405 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a976c85-2989-416d-9aa8-84890e305875 CLINVAR:15239 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26469260-01e2-43cd-a8df-080d73623c0c CLINVAR:15239 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2484dd0d-a008-41cf-b073-50db6d8b5fa6 CLINVAR:15470 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fea6c4a6-c01a-4541-9a52-4b646dbb6f47 CLINVAR:15470 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a923f0a0-a155-4f8b-b3cc-fbf69ccb670a CLINVAR:1684030 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b310b032-ce44-49b5-8bb0-37709e0333bc CLINVAR:1684030 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31300dde-9563-4779-a873-36fd8665a646 CLINVAR:100409 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5324057-36e6-415f-89de-1cd097fce225 CLINVAR:100409 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9d7bb25-788b-43b5-9917-2af410d5ee8a CLINVAR:507028 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e6f922c-bdf9-4881-ab3d-71dd315ca99e CLINVAR:507028 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cef9f40d-826d-4578-af5a-272a022b5f8c CLINVAR:15692 biolink:causes MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfbe08b6-61ab-422d-bdbb-6bc244061e64 CLINVAR:15692 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c33d243a-3b4b-4f05-90a3-c3b318cee533 CLINVAR:15624 biolink:causes MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8181b638-e55e-4883-9641-f0e06aa96437 CLINVAR:15624 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fbfe84b-5968-40ae-b8fc-522690fc968d CLINVAR:804215 biolink:associated_with_increased_likelihood_of MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f741c6f8-8f63-46b9-8326-d6e085cd4319 CLINVAR:804215 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4f5ceaa-fdb0-40f0-9b32-6bf5c183dd15 CLINVAR:439112 biolink:causes MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 823fe22a-0f59-4ec2-b879-24e7680302dd CLINVAR:439112 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00523950-3de1-416f-b358-4540f1e833ec CLINVAR:15647 biolink:causes MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13c068cd-2b31-49cd-bade-e2fad1bd2152 CLINVAR:15647 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8c54530-7fbc-43ed-83f6-ec962868b0ac CLINVAR:439111 biolink:genetically_associated_with MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 623efe4e-116a-4e3e-95fc-6ba0a375439b CLINVAR:439111 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b386f87-85c8-4e9c-bda3-9412d39ac1a5 CLINVAR:869219 biolink:genetically_associated_with MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01145c0f-5565-4fff-9703-5279b720aa43 CLINVAR:869219 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfd5d0c8-f570-42a5-92a1-53e9d60f4402 CLINVAR:15651 biolink:causes MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72d4fbbf-1ad5-41eb-bd6e-6f493c7de36f CLINVAR:15651 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a820392-54cb-47b1-a103-72306824349d CLINVAR:375746 biolink:causes MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7efe48fc-b885-4ee4-b1ba-a5cb3597f753 CLINVAR:375746 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2dd6a1a-01be-4223-a3f4-05627cf5120e CLINVAR:15690 biolink:associated_with_increased_likelihood_of MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0bf80302-9d39-49e8-8c12-2e5cec74bb38 CLINVAR:15690 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01825c15-6fc2-4d77-aca0-0075a5f96aa8 CLINVAR:1209788 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen efdaeb17-7e7c-4683-a322-22ebacadd9e4 CLINVAR:1209788 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 228a0233-2d01-4d68-bd67-ae1f83549a67 CLINVAR:2675763 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 31e01e19-f34f-4d0d-80b9-fb79765596b8 CLINVAR:2675763 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 311f678c-ca82-40f8-b76d-02e4f641d380 CLINVAR:4032 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1679c11a-e613-4350-a938-d14a08911dd3 CLINVAR:4032 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 617f7d73-d5b7-4f34-9be3-3e345da88414 CLINVAR:370483 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 37e1529f-8f4e-4c0b-ad3c-21880fbc5992 CLINVAR:370483 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8637b43d-f97c-41ac-b37f-608146a6ed7a CLINVAR:1190471 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f6f8308-1420-4c92-8cce-848d107a72ca CLINVAR:1190471 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5285fde7-4bbb-4957-89fe-300c1be53271 CLINVAR:140553 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6cb24429-b149-4476-882c-212f0072b150 CLINVAR:140553 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e271511f-3dd7-43c4-953d-3cc2b6d8ae51 CLINVAR:1323589 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b56b432-74cb-4d24-9c78-dc03863721db CLINVAR:1323589 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c14d1260-e45c-4477-8ee7-7da673f14201 CLINVAR:283179 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21b1d1a7-a0de-46ac-a77f-950d91e8c840 CLINVAR:283179 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa678a9e-fc28-4ba8-80b5-3b46c00fb76c CLINVAR:284122 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ecb62ec3-8aa0-47f7-98ca-2e3ad30188a1 CLINVAR:284122 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05736f3c-7850-409d-a7a0-243ba05a945a CLINVAR:285927 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cae7104b-389d-498a-b2ab-73c4fed127a1 CLINVAR:285927 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e488016-4c80-42d3-b59b-40d870ebc2fd CLINVAR:92407 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f91f542d-8dcc-40d8-b936-020c455c73cc CLINVAR:92407 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ff03387-8ea4-4278-99b5-7f14cc3d755e CLINVAR:92414 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d4a443b-b332-482e-acae-52d6ea749c5e CLINVAR:92414 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79bd515c-9637-4b42-bcfd-94187d079fae CLINVAR:869485 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a1c2f7e4-2c54-4c11-9ea6-1b43a1ddcc9d CLINVAR:869485 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd601913-5281-467b-9050-c95870b37e42 CLINVAR:2165 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ee89045-3251-412d-a30e-65be87a4ca8a CLINVAR:2165 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52d65836-efc5-400d-9c3f-b9d580101fbe CLINVAR:197403 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4ddd320-0aa0-4c19-a01c-b282bcd4f87a CLINVAR:197403 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22c3f506-e17d-4b67-8226-cbfbe31c98c7 CLINVAR:92405 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7568c1b1-4cf5-4634-9c07-e7790e8714db CLINVAR:92405 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 295cf78e-a4b8-48c4-9549-7cc1cf9c83cb CLINVAR:96685 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f09c8773-8619-4f66-a2c8-af44e40bd993 CLINVAR:96685 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a741d31-d896-4956-b546-c9aa342e32ae CLINVAR:282681 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb2ce333-19e9-48b1-82eb-8b9cb267b61b CLINVAR:282681 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63548d46-a520-43bd-ac3c-82968703a429 CLINVAR:652571 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 18c1f455-ef86-493b-a5cc-2fbaf257622d CLINVAR:652571 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 366af352-35bc-4f48-84c0-ed04c55f20db CLINVAR:1180840 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 770c3d2e-fd1d-4474-adf7-4cc59a12d795 CLINVAR:1180840 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe3d38cd-f260-4d02-9087-49b848f4da49 CLINVAR:210563 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d1eebe6-c39b-4175-a727-8e2f88d335ca CLINVAR:210563 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e495b57-a9ab-4b1d-9a89-d0c6e82ef931 CLINVAR:128570 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0340bb30-d5d2-4a13-9299-fba68295b287 CLINVAR:128570 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4825fbe6-7a64-434f-b044-74f98a45f440 CLINVAR:1407049 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc713450-e78b-45e0-8d22-9a08b4924c6d CLINVAR:1407049 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1340ed3b-4ea4-48b0-8942-5d6dba4d219a CLINVAR:233573 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29491766-e7a2-4328-8c00-64fbc8744631 CLINVAR:233573 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6caf036-301f-4b60-8d09-13decc04e4c4 CLINVAR:3047 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d75e0c6-8ecf-4676-a367-d745994d8f61 CLINVAR:3047 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dd1323b-e54f-4d41-9c2a-cc81b3bcf0e5 CLINVAR:644144 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d2dd348e-51df-412a-a603-02a93ac93b76 CLINVAR:644144 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54b68e68-bffa-48df-92da-6b3087ee3e07 CLINVAR:490724 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 532db4c0-af8b-462e-8195-ea940776c947 CLINVAR:490724 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edc6e26a-4e76-4ca4-9863-b8752460958f CLINVAR:870645 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7c43d685-532a-4bb6-afa0-d6217faf14ae CLINVAR:870645 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e69dff9b-488a-4cd1-8eaf-e863b4b40bd4 CLINVAR:1054111 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e9dbc14d-3d64-4706-b810-ca7a3821e08a CLINVAR:1054111 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e124aad-0bad-476a-9372-83e6d6219d96 CLINVAR:187501 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ac9a6d0-5750-40dc-8aa7-bc9c6d16d482 CLINVAR:187501 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2b1cc2c-b814-473a-aadf-4e76c203e5ab CLINVAR:490685 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa2346bb-ccbc-4807-8516-0c46d9d37d72 CLINVAR:490685 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87fac772-7863-4854-b243-dea74dd99807 CLINVAR:230152 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 063648b9-4ec9-4165-b4b4-19a034de52bf CLINVAR:230152 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea306e21-5191-4c2f-935b-96b8adc2e37b CLINVAR:219787 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb2bb000-bafd-4945-9fa5-443bc148d76d CLINVAR:219787 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9420f9f4-2cdc-4f3e-b473-97b9ae7be723 CLINVAR:453684 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77865cba-3cf4-460c-92a0-8707508ae148 CLINVAR:453684 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bb3ef84-39d9-49ef-9ed0-ef87beddbd18 CLINVAR:140823 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d39b73a-d1df-4cd0-99da-13369811c2ca CLINVAR:140823 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e26234be-59c3-4a8c-9fed-99cd35d27ea1 CLINVAR:407464 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 61d074d2-e3e9-44b1-a23e-502be8a33c1a CLINVAR:407464 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c110a6a-a273-4f45-b8ca-b9d8be614fa3 CLINVAR:3148196 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15d9c39a-152b-4c1c-af77-bab194f0ca67 CLINVAR:3148196 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ddef235-f854-4a40-8755-4f7ddc874b68 CLINVAR:1488412 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0d218e2-f8e1-4a65-a11e-fb1ea9693a7b CLINVAR:1488412 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 009d57d9-10a6-41b6-8d13-3a51e2cf6565 CLINVAR:304110 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d780b73-02ca-4618-9852-0c1614b227e5 CLINVAR:304110 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26595275-6c83-479c-9f3c-638b3f974ebb CLINVAR:497131 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24caf714-7a97-4d72-94d6-9cff21988b32 CLINVAR:497131 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3003b39-7cd1-4233-8403-bc31a4c93fb8 CLINVAR:3677022 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 58f19f50-715c-4eb3-872f-75b7615a9593 CLINVAR:3677022 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1c2ee70-009f-48f1-b48c-1f0567a8f0cd CLINVAR:94355 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c4f1e59-327b-4ccb-9b6f-b20da16b7118 CLINVAR:94355 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ed479ed-13ad-4203-aa24-9dd16394f4e4 CAID:CA414435987 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d00843f0-2da6-412b-8de0-9c2842bbeb98 CAID:CA414435987 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e376ec74-ad99-479d-bbda-02a8cc12f591 CAID:CA414435980 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 515044c0-9b70-406b-8c9b-005b4d45ead1 CAID:CA414435980 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21d8ac21-6e5e-4e0d-926e-2106201d79fc CLINVAR:618643 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f306ae9-d1d9-4aac-99a6-cb2a56a87738 CLINVAR:618643 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1e6d51d-171b-4874-9876-63bcfef6af10 CLINVAR:425730 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6fb876fd-ad88-46c3-b1c3-8aa2e28dea19 CLINVAR:425730 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51705d0c-9b50-459f-b914-14819429240f CLINVAR:425732 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c57e080b-139f-414d-bb05-db8b2ec5ed9f CLINVAR:425732 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f38eb3f-2a56-45d0-b74f-481aecbfc119 CLINVAR:1163208 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed68f6c3-ceee-4949-a149-045af69ee8d2 CLINVAR:1163208 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04dc7bcb-61c2-4cc5-9bc0-45bd1224b7d5 CAID:CA414435594 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e17ca3ff-7e3f-4575-8cb6-f205566f4a3d CAID:CA414435594 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f70a057d-fbf6-4277-a2ed-dff932ae62af CAID:CA10567758 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3738cd5f-a294-4b45-bf52-01d326ad6922 CAID:CA10567758 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7923b7f-bd63-4bf3-96a4-9e4141083424 CLINVAR:627400 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 01c2ea22-09b3-4f27-b267-2d92a2af78b4 CLINVAR:627400 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca0132f8-e95a-4e51-b728-c3701d1de548 CLINVAR:548686 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd90b5f3-7f9a-49d1-a671-205668bcfa4d CLINVAR:548686 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a98dab13-8076-4caf-8979-84c667e05830 CLINVAR:1164394 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71ba35f4-d490-4745-9b86-2c91feefa6c9 CLINVAR:1164394 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6394bf03-e572-41e3-b329-7b1029a60521 CLINVAR:11317 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e980afc3-2b43-437d-b3ef-6c7b13bdd007 CLINVAR:11317 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9bbbd1d-7eb9-499c-b87b-497f27e04306 CLINVAR:92325 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5a0711b2-7737-430b-978c-558a1bf15182 CLINVAR:92325 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 869346a0-c800-4739-8877-6efd8dd7cd52 CLINVAR:218422 biolink:causes MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1224257-b959-480e-a1c2-6f0c807159b1 CLINVAR:218422 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30587666-349a-43f3-a601-682fea053b68 CAID:CA386295701 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a4c8cc0f-375c-42f6-ac87-c8cd611cfea0 CAID:CA386295701 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab2debc2-9849-4008-a839-b715aff09f2d CLINVAR:583 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 781734b9-1fba-4ad7-9d83-507fdc7ad378 CLINVAR:583 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 442b699d-4a35-4946-b791-261d0990b77d CLINVAR:1504560 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7bcf1fdc-8874-42dc-9793-1cfb197f6f1f CLINVAR:1504560 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 223eae2f-a9f9-41c8-85b7-d5ad787c4d56 CLINVAR:449353 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ad840f5-13ba-4315-a54e-92456bd76d39 CLINVAR:449353 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8bca9aa-f9eb-4f7d-a5ee-00565156cbc6 CLINVAR:665836 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f21706a8-8d63-4d6a-8cc5-c64b5dd71fb6 CLINVAR:665836 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c25b772-6ed1-4a6c-830f-c9caf0c773a5 CAID:CA415098539 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60d73cbe-72fc-444b-84e5-3b3b7875ae70 CAID:CA415098539 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3b162c7-179c-48b3-a869-820df1f09f39 CAID:CA415099400 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 09e61aba-23fd-4ee7-9bb3-005b40715dbb CAID:CA415099400 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c64c0f5b-4726-44e0-97bd-666ea384c0e9 CAID:CA415100409 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1796c6a1-1c51-4b71-b9a0-169fe36bf66d CAID:CA415100409 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55bb2f13-dea5-4c2a-9d6e-6e687e1b29ae CLINVAR:930240 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7a01d7f9-388d-4734-b684-bdb41ba29ca3 CLINVAR:930240 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c8b78e9-aadd-4226-8176-5de12b015a25 CLINVAR:11310 biolink:causes MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4073417c-eee8-4112-8562-b926d9977e66 CLINVAR:11310 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d01b35ce-a12a-4287-b74b-0306d59eb1a4 CLINVAR:11312 biolink:causes MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7750b76e-8909-4e83-828d-4a851b26e72b CLINVAR:11312 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b7308ee-cad8-4f7d-b73c-e5eadd65be53 CLINVAR:1357576 biolink:causes MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee17eb00-cff0-4edf-9fbc-24da27c96cfd CLINVAR:1357576 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe38eb42-156c-4117-bfd4-22d6c94d0a2d CLINVAR:458646 biolink:causes MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 000da986-4a57-4edf-a9fc-f939d262989c CLINVAR:458646 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f98f3119-a708-4ac2-a49b-f6543f8b15a5 CLINVAR:872971 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ddf67d17-e7c5-4f40-ae8c-e1416a70eaf5 CLINVAR:872971 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eff5ed99-1cb6-421c-a8a1-f30e9c5a534a CLINVAR:974948 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5a83add-7afe-45ad-bf60-b8d93e16523d CLINVAR:974948 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2704569b-9849-4f8e-a588-d867d0f2973d CLINVAR:1172887 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0e4ca34-c33a-456e-a8b8-b4a5628bffcd CLINVAR:1172887 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 999cbd42-f589-435d-9611-f102036338e0 CAID:CA341292216 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81f7d82b-1d23-4016-bee0-f1f7732826ad CAID:CA341292216 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48927451-a8f4-4ec9-9784-7d7c699ddb40 CLINVAR:2021273 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 43b476c3-f0fd-43e8-aae7-dd0ebe2ac0f0 CLINVAR:2021273 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 143a09dd-5f63-4ac3-897c-f0a79b3d7941 CAID:CA341289425 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15a0bdc3-8fcd-4216-a860-84fe0a4a43a3 CAID:CA341289425 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce40360b-a7b7-4a4d-94b5-cd1101884166 CAID:CA2588340115 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f3f1acc-a297-4657-ac4d-46f98f0be83b CAID:CA2588340115 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39edeafd-f63d-468e-8bd8-eb5ab1d8aa86 CLINVAR:4710906 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29325a50-1dbf-4e20-b7f5-4dee6db47ff4 CLINVAR:4710906 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db0c85c2-5638-44a7-982f-415bcfb314d5 CLINVAR:837244 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ecb2dfd9-7860-40b1-ad0f-b8e38d536158 CLINVAR:837244 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07d2b19a-e7d4-44f9-85c5-479e394a9969 CLINVAR:3724631 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a4d1434-67f9-4b5d-95b4-e9a6d7de3fd5 CLINVAR:3724631 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a302a87d-06d4-4257-9c9c-169718ed9c64 CLINVAR:914586 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d430bc7f-2cbf-422a-8db2-4b2fd42c33b8 CLINVAR:914586 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 111496e8-a943-4f0b-8f48-8e0cf0ea9b47 CLINVAR:420900 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f97c744e-5e64-49c4-9f83-f3aea5ab27ee CLINVAR:420900 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 319de709-1cfb-4d4a-b4a4-783f7a013d25 CLINVAR:528335 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9f06d1c-a4ef-4fd8-aede-559bab0b9456 CLINVAR:528335 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4883c792-2b87-4b7d-9d09-28a66289ecde CLINVAR:1410844 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e01a47a1-8bb7-4074-a47e-ca2d31c7fa1a CLINVAR:1410844 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 075427e9-afd7-467d-93d8-cf0517d99fcf CLINVAR:851448 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7a469542-24b2-467f-83aa-21725d263146 CLINVAR:851448 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb3665d8-1a9a-42f8-9c24-c42ba450482c CLINVAR:1420866 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6cce8e7f-7fec-4f48-ac21-544439e03be2 CLINVAR:1420866 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f48565fb-69c7-4446-89be-ba75c66fb0c4 CLINVAR:219532 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e8e022ed-4dbd-46d1-b2a9-4eac7e5d6ebf CLINVAR:219532 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3aa871c-c0a3-4dab-8653-ecf4e5a9eec4 CLINVAR:934410 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 04938135-e1e1-492e-8b20-7401d619330e CLINVAR:934410 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e2f2696-76b4-4067-9781-915c981838d2 CLINVAR:480759 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b92b07f1-e75f-4827-b889-325876eeede4 CLINVAR:480759 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6ab712b-111f-494e-9564-9ef2d265c08e CLINVAR:486555 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a42b6fd7-2305-4b4e-9dbd-e8342a5993fd CLINVAR:486555 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5a7aca8-68ce-4559-a468-1219a0e40166 CLINVAR:988616 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82680f24-4d5d-4c5f-b340-9dfd20c0ec16 CLINVAR:988616 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41df798f-d6a6-4bfe-8576-c40fbc0bccb6 CAID:CA2695213741 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40ce7584-119b-4896-93ba-684f5a2a5378 CAID:CA2695213741 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b73b554a-844a-48e0-9803-88711134f207 CLINVAR:1072413 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a849ba2c-7243-4708-9a88-acbd2f678ebc CLINVAR:1072413 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2477d3f-e3e5-4634-85ee-bc7fe8f0c252 CLINVAR:13148 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75a0d704-b1e0-4c14-b3fe-6ccd9a4b03a7 CLINVAR:13148 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 974c3775-1f85-46de-ad5c-66751ec0c317 CAID:CA376060150 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1232b795-05b9-4f57-8406-1051fcea467f CAID:CA376060150 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2182e864-0360-4039-a0c3-5c5001836f5c CLINVAR:624584 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65d1386c-edce-483f-97f4-b61c67fa2e00 CLINVAR:624584 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55130e11-fa32-446a-823e-0ea3b9b95030 CLINVAR:488725 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e6a4b2c-1fbd-4d4b-8e0a-18248f91e565 CLINVAR:488725 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7450f61-0f4a-4067-ab0a-d5621a18aebf CLINVAR:2943710 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa0b3803-f0d5-4566-9a73-7354106a4a4b CLINVAR:2943710 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a367e80-29fe-45c4-ae19-8cd10fef6a21 CLINVAR:36714 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0fe0e04f-afe7-476a-8e28-0b15ecf1fd79 CLINVAR:36714 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcc30e61-b884-4b8b-ba64-351edae140c3 CLINVAR:13146 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 936d04a1-5f0d-47dc-b248-cfa858396cc9 CLINVAR:13146 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c612cd2f-9676-4bad-bd30-9fcca4ae6b00 CAID:CA386958852 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7ac8b6c-9c02-42c8-b315-a1feb25c8416 CAID:CA386958852 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d59721cc-38b3-422d-94d8-b4bd7ac9a2b7 CAID:CA386966502 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 44413ed0-5ea0-474c-b5c8-c9b7ffdcbc89 CAID:CA386966502 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1864bc21-2211-4661-93d0-fe70f037b93f CLINVAR:562363 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1b5392d-aa6a-4418-983b-fa5fd60444f3 CLINVAR:562363 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04fe64bd-0c9b-496c-833f-8bf13a616e4a CLINVAR:972775 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ef7e0aa-5fcf-4350-bd0f-94a82a55a587 CLINVAR:972775 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4150609e-7a7e-47c0-b181-256a5c9ed04c CLINVAR:804857 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4b700b9-e555-4c1f-a986-4096f0ed64aa CLINVAR:804857 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0203c45-aac1-4768-a4b8-005fc73ac2fc CAID:CA4239432 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7ed542b-b71b-4297-ae7d-b8d9eb99b7c4 CAID:CA4239432 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7dda3f5-e26a-41cf-ab09-cfe04e3ca896 CAID:CA4239511 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7383ffe1-3b2f-40d7-9770-801ab84bd715 CAID:CA4239511 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71de453e-feb9-4e0a-b98a-e8db90736a8b CAID:CA4239428 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d701d93-c3f2-49d4-bbdd-e42819f3a3bc CAID:CA4239428 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e17fd9cc-a550-46f5-9865-fb66549ca83f CLINVAR:1770532 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 06c0c6bd-ce70-4338-bc78-68c1a707dd15 CLINVAR:1770532 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b897659-0294-4ae3-850b-8bf1955371e2 CLINVAR:2734986 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a175d15-3a96-427e-b520-d7a824f9647b CLINVAR:2734986 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a76715b-2c5f-4739-b6be-0c831d70ed8c CAID:CA367396913 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef093477-ed9a-412a-a55b-d8681100085a CAID:CA367396913 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 289a97ac-5460-4437-ace9-1dc07bab6916 CLINVAR:1761162 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f8d87ce-98bd-4ede-b177-4014463796ab CLINVAR:1761162 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71de01ff-5a00-4f7d-81fe-1ad66d0e10f0 CLINVAR:3720744 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2cd7f91-7321-4bb5-a054-8da6958bfb89 CLINVAR:3720744 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 059a7f11-02c5-4ccd-87b8-2a395f24b900 CAID:CA367398185 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 756636fc-9195-4e32-87f1-28166cfb3f03 CAID:CA367398185 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25e479d0-d9e3-46b4-974f-b11f692571c7 CAID:CA367398898 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c61e748-d6e0-4c6a-8835-fa0c3d429bcc CAID:CA367398898 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d684ab8-d4f5-44f8-a7f0-9579bf1d766b CLINVAR:3030720 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e51048a2-eb1a-4ec1-8dbf-1242c58898ea CLINVAR:3030720 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0271e0c4-fa3a-4609-a8aa-e88e6a41c9d2 CLINVAR:918070 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb4c2eb3-4f0c-4e35-ba6a-28ff95ae7a2b CLINVAR:918070 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fa770c9-41fc-4407-9fe7-b9e89ccafd6a CLINVAR:635988 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec9ad7b0-a1e0-48aa-83eb-d50eda64ceb5 CLINVAR:635988 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d153f153-d276-4ae9-8608-d5f4db163475 CLINVAR:92870 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e129b9c0-3b59-4a1b-95e8-03b00f906653 CLINVAR:92870 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c6524c4-7884-4863-a8aa-7a91685e3fef CLINVAR:236114 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c66c83a4-454f-4dd4-95e0-f92f89d9f50b CLINVAR:236114 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f2c7f76-a087-4444-b032-5d7b08942a3c CLINVAR:666959 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 16efe0e8-99d9-4ff1-bb00-1d28c2cb4333 CLINVAR:666959 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbfe02e6-4cc2-44ae-8f53-45c86888fccc CAID:CA414435596 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77f76a62-59b7-4b1e-9a85-3fa3dab67bfa CAID:CA414435596 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb311544-a2b3-4390-99ac-22b20a60a8e8 CLINVAR:916723 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa905f43-dff1-4bc2-baae-703c0a1ce333 CLINVAR:916723 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa4b4d78-5cc2-417b-9f3d-cfc4fe12c40b CLINVAR:1517581 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afb2c324-c726-48d3-89da-c89695326ac0 CLINVAR:1517581 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79bac7fc-43c7-48b3-8f52-58dfac8d87d5 CLINVAR:134539 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f97ffd76-e144-40e4-a72c-964c76e267e2 CLINVAR:134539 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5b7db47-b552-435d-9b77-b4353ba30190 CLINVAR:2738034 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cccc3768-c822-49d0-a939-5834d10487f0 CLINVAR:2738034 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a293abc-7002-43c0-ae25-86b51c956031 CLINVAR:289644 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0d9b8f3-a3a4-4006-bdc2-ef8e9c581074 CLINVAR:289644 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 339e2aa5-9602-44a0-9c8f-f02f9eb3af0e CLINVAR:2441110 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d71c420-7993-44f6-8a1a-e1e9ab4b8fff CLINVAR:2441110 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3187490-ce7b-4fd9-9a3e-476592e967e9 CLINVAR:1448363 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8c6253f-a4d6-40c2-aeb0-e5b40842fb7a CLINVAR:1448363 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4cd1116-7fd8-45f2-be8a-93aeb66f501e CLINVAR:285200 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7fdccdf8-f4ce-46d5-9de4-6853ec2d9dfb CLINVAR:285200 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a40a1b3-974b-48e0-ba53-a4cdbbc305e2 CLINVAR:290515 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 21033712-72f1-4f9a-95bb-fbb6b3a54a4a CLINVAR:290515 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67e7ed5d-8a9a-4569-baec-9c4c2d908796 CLINVAR:284385 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 75fe8dff-39e4-4223-a0cb-54790a644acc CLINVAR:284385 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fa0184c-3b05-4dfa-a71c-9b0b3a65cd87 CLINVAR:285460 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ffb8293e-9f7e-420a-a5fd-569e05db1720 CLINVAR:285460 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 991d5169-b030-47f0-bf4d-2c4cb085d311 CLINVAR:198690 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c9f96d20-5b2e-40f4-8572-a2c3c116ae9d CLINVAR:198690 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a072abf-205b-463d-bd58-0a167c674055 CAID:CA2695218823 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 55f8c05d-dbfd-4181-9641-b5c9ed6bed7b CAID:CA2695218823 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df238df1-b3c0-4cfc-a96b-f5877762f018 CLINVAR:166789 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c2d565f-9323-453b-a043-9dc298ea8692 CLINVAR:166789 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57b92740-b109-4ef2-9c97-9a9d1d25d991 CLINVAR:286743 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c33e55b7-9aeb-420d-b344-2afc6d11bbf0 CLINVAR:286743 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51824ae1-6020-4ef6-ad29-a2ae33eb2b87 CLINVAR:498216 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen abbc6e44-4e33-4dad-8bb2-b4b331e26b41 CLINVAR:498216 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75209066-b8e4-4a55-8436-0e0596a37dfd CLINVAR:2674980 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e42d7315-dec4-4437-9ea1-e0f1b7bd52e7 CLINVAR:2674980 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1a39406-2ef5-411a-999c-f314801d9af7 CLINVAR:282624 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e9fe0f5-9589-43b5-84fc-00d666832588 CLINVAR:282624 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3011a17-4115-401f-9578-70502ebdfd39 CLINVAR:6671 biolink:associated_with_increased_likelihood_of MONDO:0016971 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d27d261b-c2c0-4b10-99f1-dafd506a4993 CLINVAR:6671 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e7c6997-066d-4b5a-81de-241a1f37df61 CLINVAR:566085 biolink:genetically_associated_with MONDO:0016971 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bcaeb9d-9f08-4241-9744-263b84ee394b CLINVAR:566085 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ca59587-cb4e-4a47-84ee-9bad7aba1109 CLINVAR:662490 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eeaa5d1c-2cd4-4de7-897a-51bb860edea8 CLINVAR:662490 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb8121e7-d4e5-4d86-917c-c55ff466f8e0 CLINVAR:282646 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 892a46bb-d402-438e-9315-deebbbba66e0 CLINVAR:282646 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50b5c5ea-d8b5-44ef-b448-17aeadfd12c9 CLINVAR:195450 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf2827f1-58be-42f0-a3b9-5ca3a6b25628 CLINVAR:195450 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 468e7ec5-f936-482d-9de4-94beb61d296d CLINVAR:284807 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc5a2dad-d996-4c06-b820-b55b994d7bf4 CLINVAR:284807 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06e97df0-206b-4ee0-813e-f6b0c535a519 CLINVAR:289098 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cfec709e-3ce9-412c-97e9-ac1d9741e22f CLINVAR:289098 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02a0a073-8054-486d-ac17-52e82e506b96 CLINVAR:167677 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e407099-15b6-4cb8-8a62-50335ee47ed0 CLINVAR:167677 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73461178-65c2-4a10-b70b-e2b6dc9a9e1c CLINVAR:2009 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4ec10c4-71a8-40f0-8e5d-fcc0f4717590 CLINVAR:2009 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 479e4660-911f-41e1-8de9-9c252ae1065d CLINVAR:42035 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 47ee153d-1ad7-4a7e-b15a-f0fb06d38700 CLINVAR:42035 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54b3a440-a9b9-4889-b10c-7922b9a6e328 CAID:CA387502551 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 636a04b4-d4a7-40af-9e45-48501848d059 CAID:CA387502551 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96311212-c1de-4e67-9659-1fd26697de43 CLINVAR:281148 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29e9e702-9ea5-481f-b6f3-91a20b292aeb CLINVAR:281148 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 059b1b1b-dcb9-4310-9fce-8fb18d76fe5c CLINVAR:813953 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 331b9224-1c38-41c0-920d-f6ba8e99fabe CLINVAR:813953 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6d3dac4-4b16-4d4b-882a-5d53be45839c CLINVAR:498275 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 897fbccf-01e6-4ecf-b556-abc26e680aa0 CLINVAR:498275 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bead15c9-affa-4358-a64a-f8755270d2da CLINVAR:217150 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c79091f-4c1a-48da-916c-551e4cbba0ad CLINVAR:217150 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f25f0ad0-d5ae-407a-944e-0897258443ad CLINVAR:1052453 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe4889ba-3584-4704-98ac-d678a1e32c86 CLINVAR:1052453 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 706b4938-0fcd-489f-bf32-554aec2dba23 CLINVAR:659203 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b66df26-1427-44de-b82b-edd0369cafd5 CLINVAR:659203 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03660e34-9f9a-4169-88b2-f99e003fa254 CAID:CA400180431 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba332842-438b-4f11-9296-4bf57e9950c2 CAID:CA400180431 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 089ecfd7-4727-4629-8dc4-99a29e2c97e6 CLINVAR:193037 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08a0e3fe-867d-46ca-8bec-430d381bf341 CLINVAR:193037 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a1e685b-3312-453b-b4b7-6c54ea89de80 CLINVAR:284685 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa278ff0-8707-4baf-bd5d-f62a3aaf3004 CLINVAR:284685 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3df693e-6ec7-4e45-8ff5-28ab65199eab CLINVAR:284708 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59ed5a76-a3f3-416e-a788-b8486dc999c9 CLINVAR:284708 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f79294e8-ecf4-4849-81b6-bb544bf53fb7 CLINVAR:9435 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 046e73dc-8c29-486e-9768-de894cacf005 CLINVAR:9435 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e12ae0e-f941-496e-9957-ea0b6652d601 CLINVAR:286025 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60a8662b-93f0-45fb-9914-dbf05af8ef1b CLINVAR:286025 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85177931-c403-4ac5-9894-b8bec6b6c48d CLINVAR:282512 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e367d4cc-64d7-48b6-9380-8d666b7c8121 CLINVAR:282512 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2678f5b8-dc23-41aa-8791-538e00344eeb CLINVAR:617543 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be0ef677-7ea9-4132-94b0-5542fba5a713 CLINVAR:617543 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8118e692-997a-4430-96e3-349812a3db9b CLINVAR:813972 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 197fd7d2-8ca2-4c1e-8d6f-9a4d2149157c CLINVAR:813972 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d646354f-af67-4631-8226-c1db8a3444c8 CLINVAR:94363 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f1ff0890-ac52-4e68-860e-08165c56aa5a CLINVAR:94363 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fe82775-75da-403c-9210-87d6aa7803ed CLINVAR:2116162 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1961b648-2865-457d-82b2-c9507ef0f12e CLINVAR:2116162 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb444aa8-d7d4-468c-aced-1e6f0b626b4f CLINVAR:282408 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1b5c333-392a-4191-95c3-50c4865568e8 CLINVAR:282408 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d05bf69c-d9d0-47be-a949-841c9868617a CLINVAR:284515 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87ad705d-996f-4867-a2e0-171cacfd10fc CLINVAR:284515 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 741e6b20-96ba-4c0d-8bdb-782db7720a10 CLINVAR:2429327 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c8da931-9fef-4d15-b900-61e61f7ec346 CLINVAR:2429327 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98a2e05c-58c5-463b-8e1d-22b4592f98c3 CLINVAR:289794 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4af9d4a-58b0-4075-9371-6977541f953f CLINVAR:289794 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d7030c6-9074-4d0e-b820-44cd6cf0a6f0 CLINVAR:550333 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 568e6e50-3ec0-435a-b401-f4317990cdd8 CLINVAR:550333 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b250dcf-fb36-4c17-95c2-f06b45641367 CLINVAR:471337 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 333b9d2e-6678-4af8-a877-21cdd0b3b424 CLINVAR:471337 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0441c658-5e54-424e-ac40-a3df4946262b CLINVAR:392545 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e12461b6-cfcd-4a71-8f5c-1a938335640a CLINVAR:392545 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6abc325-82e1-472a-9f3e-779db98ade4b CLINVAR:2006 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 212ac5a5-8936-4681-88aa-a9100165fbd5 CLINVAR:2006 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae12f4ff-ebd6-414e-85f1-3f001e6d9902 CLINVAR:2506158 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d0ec305-047d-4628-b710-207d435803b6 CLINVAR:2506158 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb4c3acf-3341-4848-9df5-28c95fbc7423 CLINVAR:265487 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b368d3e3-54a2-4c69-a438-134f9a65e190 CLINVAR:265487 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91ba8df3-cb2a-4059-90a1-dc51b4e3d948 CLINVAR:812806 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 74ef4089-37ac-4264-bb46-dd6a896669b1 CLINVAR:812806 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e196c66b-3a2f-4c3d-a792-1439174d51df CAID:CA2586965542 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed9af731-86e1-46aa-9c22-51e142c99e31 CAID:CA2586965542 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8ce7443-d94c-4f98-a47b-c75d829dce34 CAID:CA341286822 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b104727-77fe-46cb-9caf-a9fc380f1b3c CAID:CA341286822 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ce51ba2-eb8f-4c69-8ddf-c4fe0a9d87b0 CLINVAR:867010 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18eb0ff0-ccb6-4d20-9c76-a7c7fa82ae92 CLINVAR:867010 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a38d66e-6f36-43d0-bff0-9a026a11812b CLINVAR:2114998 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3c76fd4-367b-481c-b3c2-4fe5c98b5869 CLINVAR:2114998 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 299bbda7-f02c-4dc7-9102-093e0f5f20af CLINVAR:2003663 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5fd50c22-dec0-4f4f-a8cf-61430c8d3d1b CLINVAR:2003663 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e4577b2-0318-4821-a5a5-5e33b27c6d03 CLINVAR:1367009 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5136d0d-f970-44ce-b76c-a99dba5ab5fd CLINVAR:1367009 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a666b666-c5f8-4138-b3e0-d312f11cb779 CLINVAR:841821 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea26cef7-3000-4327-8710-4d8e17721ff4 CLINVAR:841821 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa6b17fe-03c9-4497-b0da-8c595d9009a7 CLINVAR:866026 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbf035f9-5914-4518-b914-b14603203d54 CLINVAR:866026 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18c7d5eb-c173-47b4-bdd7-65b88f2b6864 CLINVAR:1559116 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d637e35-9263-4ef5-b6df-20fb0a14d0c0 CLINVAR:1559116 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fc74201-de0b-47e1-bcd4-9c2ab9f9a6e6 CLINVAR:2008480 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0d597d5-ae90-4cbe-9f99-f22a1f53707e CLINVAR:2008480 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd2a8eba-ae64-4d4e-9706-0a5d615a59b4 CLINVAR:839263 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cbc048b5-9ef8-4ed0-95ea-20c62d447318 CLINVAR:839263 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ccbd1be-8568-4374-8868-849cd2c4d801 CLINVAR:806157 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44705a55-ee8c-4401-b7aa-7081bdfbed85 CLINVAR:806157 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5dfdc5b-ded4-479d-935e-57c5e34f87c7 CLINVAR:639949 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c0e6f7e-4117-42af-9d25-9d63644ee920 CLINVAR:639949 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf5c83de-64e1-42e6-8f4b-f651eea66586 CLINVAR:932785 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b6bd3d5-0a31-45e4-9d44-bf461a4f2f00 CLINVAR:932785 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e04a5939-3ca9-46df-be3f-03c142ab39fa CAID:CA341283196 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 647057b0-db57-4cbf-8638-ee838385511c CAID:CA341283196 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a24f9f4-fdbf-44ef-a38f-72ddb2dd9ac2 CLINVAR:618507 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07db3961-eb8d-4a56-a3aa-620837e94741 CLINVAR:618507 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fe4b4c5-8760-4ea0-8801-852768288a54 CLINVAR:1454452 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9bfb1051-8d2e-4572-8278-a7927d032ff8 CLINVAR:1454452 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b005476b-f957-49bf-aff4-2d6db04f8f03 CLINVAR:2831012 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 286ba207-2e8d-474c-ba48-47fa68f8118f CLINVAR:2831012 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d93c015a-e774-454e-ba1a-280267788ee6 CLINVAR:2203496 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56ba0403-8042-451e-a3fc-f941901f111c CLINVAR:2203496 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08029b68-c54e-4122-9f9f-3bb924bc8fd4 CLINVAR:928997 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 71140a42-655c-481e-80a2-1ec7ff8abde5 CLINVAR:928997 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67195ef4-a80c-42ae-9657-d229d0cc7e7f CLINVAR:550010 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96c9dcab-f22e-43eb-a1fa-40c00b6610f0 CLINVAR:550010 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c252ed23-40fb-4595-a954-ebc2bb759adf CAID:CA658795277 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen def84218-5fa5-4030-8baf-864d8fdda65b CAID:CA658795277 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 447158e5-2fed-4568-8c6a-9106b1ccce08 CLINVAR:92469 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8721b0b6-b0f6-4808-8db9-1c880dc7d456 CLINVAR:92469 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cce2fee-6d76-4c38-9c4c-3a9782ed95b1 CLINVAR:972773 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac0b8f36-fe51-4e03-949f-2eea57be86c8 CLINVAR:972773 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50f53b8b-c1f3-4814-9d71-008a8c77500d CLINVAR:2675751 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f83da62d-1470-4d2a-8821-662a6fb96d60 CLINVAR:2675751 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf90159d-c538-46ce-ab9d-b8a050481469 CAID:CA355965964 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdef1d57-04fc-41bd-a19d-dbad3b01e2a1 CAID:CA355965964 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a82c83bc-64f0-457d-8d45-80ab0584ac32 CAID:CA355961522 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f782b6a-5480-4d85-9fdf-c7289849c533 CAID:CA355961522 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ae749c1-19c9-497c-be40-19bbf3769382 CAID:CA341290608 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bd7799af-ce52-4dca-9870-43a92d4a6dcb CAID:CA341290608 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0e6c9b2-5a64-452e-9e02-90291c7abdd1 CLINVAR:866538 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dce2af14-5b37-497f-9894-da626decd6c8 CLINVAR:866538 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99cbee3c-dcb9-4e80-b6bc-f1987b75c8ef CLINVAR:4745458 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a478376a-c1e1-49fa-aca8-016c6b0227bd CLINVAR:4745458 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 810a713d-32ef-496d-b8cf-26036f4169ed CLINVAR:99448 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 20f223f2-c10b-4c7c-9b85-d8fd364c2770 CLINVAR:99448 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 142f9ff4-fd3c-4a7f-a598-4c44c2ba70a3 CLINVAR:99265 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5087623a-0c2c-4fb2-9e1e-213e1624b354 CLINVAR:99265 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32881974-c329-4490-98a8-2db0278add97 CLINVAR:377402 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b4886bd-1346-4933-b6d1-cb9d4f8c2bf9 CLINVAR:377402 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2a7257b-26c3-4817-9892-755f73ccd62d CLINVAR:1048143 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74e62395-9d85-4ca6-84a9-02f4600eb64d CLINVAR:1048143 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84dcc409-ff8e-4ed0-a6ab-7bbb15d91e3d CLINVAR:1477198 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60c7fec4-d875-47c1-be84-823c4f12b55f CLINVAR:1477198 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 152d2590-72a0-45e4-91eb-84939128d81b CLINVAR:1481126 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b630810-ab11-41ca-8f10-be97982a89a3 CLINVAR:1481126 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 092de298-aeea-4853-85e6-cffc6a9d6631 CLINVAR:1410089 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e6f764cd-dac4-48f2-a1e0-c0bf5f0a3bba CLINVAR:1410089 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acabc93a-836d-4975-8d0e-2c679116072a CLINVAR:957296 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fc9b8519-d0e2-4a38-b916-93407052ca08 CLINVAR:957296 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 985a6a0f-617d-44e0-9392-29e189a58974 CLINVAR:866298 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cdbd1de0-954f-481b-9b61-7fe3fcc76b03 CLINVAR:866298 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90727806-3229-4415-844c-eccece8fb802 CLINVAR:282260 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen deac71f3-4f44-49ab-9780-f825771a5f82 CLINVAR:282260 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93baf904-4f6b-486a-a39d-06a0db4a5f1f CLINVAR:932860 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 320dd17a-02a4-40c2-b06e-a13412af0f2e CLINVAR:932860 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 427b17cd-a5f2-4748-a2c9-099a98ccf162 CLINVAR:3948835 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed5db3cc-780e-4d80-87be-4fc317c4a43c CLINVAR:3948835 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5556295-66f4-4f7c-b13c-6a33ef1ad4f6 CLINVAR:3336849 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21d9731f-c23e-4c79-b0e8-d38422478103 CLINVAR:3336849 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf3a2f4d-3ee6-4c2c-88d6-f6a59ad00a2a CLINVAR:4158196 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6ab92ae-5248-416b-9b0d-458dd864a8f0 CLINVAR:4158196 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a1c9b40-deb4-4a3a-9d66-8907ef4ca1e1 CLINVAR:4158194 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f23b6ec0-f391-4302-8c1b-2937f26bd581 CLINVAR:4158194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 633f2fd9-e5db-4db8-a7f4-87846ce25094 CLINVAR:4158223 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ed15c9e-55b0-44f8-8830-8a9a83a3c275 CLINVAR:4158223 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 871e335d-ba42-4e51-a076-358e7f551ffb CLINVAR:4158221 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eab78386-1e6a-47c5-89ea-0f3faa159467 CLINVAR:4158221 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d860c70-dad3-435f-9bc6-ae0309fd1d98 CLINVAR:3948885 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa825583-0cab-45dd-bb83-dacadb30a7c4 CLINVAR:3948885 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3413e434-76c9-4cfc-80d9-1507084f67c8 CLINVAR:3948886 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33360c16-dd84-44a3-a73b-0471c825d53f CLINVAR:3948886 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 914c0171-faa7-4ce8-a5f4-5db61b72fd0b CLINVAR:3948888 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1db69417-b9f6-4e6e-be28-8b6237139540 CLINVAR:3948888 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83939699-b5a9-4457-acb6-d10116e1b744 CLINVAR:3948882 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67cdb8e2-4622-456a-8938-67a4efb72551 CLINVAR:3948882 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 346af188-8a2f-4e74-87c8-df7b21559457 CLINVAR:4158200 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79256c12-b378-45aa-8bfd-3311c41c70cb CLINVAR:4158200 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dfbd141-27aa-41dd-89c9-102c12317357 CLINVAR:4158197 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51ea7804-20fa-44e9-b7ce-48bbe72f3b0a CLINVAR:4158197 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c91ca8b-4dbd-495e-89cd-d817106afc79 CLINVAR:3948880 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06d951e8-e829-4502-b8e5-c57ef83142d4 CLINVAR:3948880 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dae59499-295f-463b-837e-3e6d2c7eaa5f CLINVAR:3948866 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14aaf7de-2b3f-4cf8-85e1-b86a0d07993b CLINVAR:3948866 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f047954-3d63-4351-9e7b-3902efad6240 CLINVAR:4158177 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07d85fd1-8ad6-45d1-b9d9-c96bb33bea54 CLINVAR:4158177 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea4b58d5-b3ee-4a5d-a278-1b408b46ede3 CLINVAR:3948897 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e1dfd2d-5c0d-48e4-a488-f57812cc6b1b CLINVAR:3948897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ad1260f-3546-451a-95c1-71a317d9f824 CLINVAR:3948875 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c2d19da-8819-4d8f-9958-edaaed33d304 CLINVAR:3948875 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b83d55a-9168-4e4a-808a-e3921690edd7 CLINVAR:3948893 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 251b98a4-4261-4324-83c8-651e076a678c CLINVAR:3948893 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6803918a-4492-46f7-9236-015f388358c3 CLINVAR:3948827 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5ad39bc-cec8-4126-9ba9-5ebacfb41c1c CLINVAR:3948827 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1693b69a-e484-4520-80b1-679a2231a544 CLINVAR:4158166 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8b7a173-10f5-456d-b373-76eea8e9055c CLINVAR:4158166 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecbab87c-2a48-4425-8c97-b3d6db5796d2 CLINVAR:4158210 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ff0bb67-d3dc-4634-9cbe-ff489f77d6bf CLINVAR:4158210 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16a42d38-0c91-41bb-8b7e-1860ee5a7386 CLINVAR:4158192 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cdedb595-e59b-4a7b-bc8a-097131e6ca80 CLINVAR:4158192 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0edca0f-fe16-46e7-9a83-d3e842d36aa9 CLINVAR:3948861 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0c7197c-b590-4a9f-9ec9-f1601031cb35 CLINVAR:3948861 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91b29eb5-2ca1-465c-87b3-441d51ba4d17 CLINVAR:3948876 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a439982-d13c-4f84-937e-5d3d50977b4b CLINVAR:3948876 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 837ea92a-d94e-4f80-8f6c-0b6a989d8366 CLINVAR:4158182 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e131a4b9-a9e5-4249-a4a6-b6c78bc3f9bb CLINVAR:4158182 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20b6218a-b500-4343-9daf-645d39fb6cb8 CLINVAR:4158181 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa4f61a3-2f17-4641-abd0-b0b466566335 CLINVAR:4158181 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56b9a07f-ec6b-4531-a293-892555470705 CLINVAR:11014 biolink:causes MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30c748cf-f98e-45c3-9c61-00f59b771976 CLINVAR:11014 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d36da4cc-ce9f-409d-b7ef-c7774525e352 CLINVAR:11012 biolink:causes MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3a72406-9042-411a-b969-c95560cd8b15 CLINVAR:11012 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48880c91-f546-4f39-b28f-0bc250843f3e CLINVAR:97131 biolink:causes MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8505e5f-c5be-4ee3-823c-7b64d09cd34f CLINVAR:97131 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaa7ce90-e060-47b1-8651-7682b0893f50 CLINVAR:203868 biolink:genetically_associated_with MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 715585bb-aa79-4c6a-99d0-c2b6868b9edb CLINVAR:203868 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37f08c22-5ca8-478f-9544-e1cd328618f2 CLINVAR:1915613 biolink:genetically_associated_with MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ab5fa3d-2e31-442c-9aaa-b0bf0a5ba1b5 CLINVAR:1915613 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f4ee58f-1058-493f-a53e-f3b92f55dab8 CLINVAR:11013 biolink:causes MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e53308a1-fbe7-4429-83e6-46d5fb2c29cb CLINVAR:11013 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 573b32a5-4d67-4018-a0f2-8d138b51c19b CAID:CA412716969 biolink:genetically_associated_with MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5dd9b20f-2afb-4177-967b-8d9783c7295d CAID:CA412716969 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88871489-f6e2-47d4-a00e-7158481e5822 CLINVAR:97260 biolink:associated_with_increased_likelihood_of MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 27b4fc35-0eef-414d-a821-5b37b7f64902 CLINVAR:97260 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a38b915-3603-4183-86d2-2f7f7ef9b712 CLINVAR:97193 biolink:genetically_associated_with MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f22c4fd0-ab8e-422f-be94-266fcd03af36 CLINVAR:97193 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89eb3d94-c631-4c6f-a04c-067ea94af5ae CLINVAR:97145 biolink:genetically_associated_with MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 737572b4-9a1b-40b1-95f7-a9cdd3e0c0d0 CLINVAR:97145 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44bc8153-d954-455a-b15e-f6a7b7be8c44 CLINVAR:588323 biolink:genetically_associated_with MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9acf529b-0415-4d26-b448-c5cbbdce9f04 CLINVAR:588323 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4796efa6-0cb4-4c90-be28-85519a203877 CLINVAR:97350 biolink:associated_with_increased_likelihood_of MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a4890b38-79f3-422d-b075-67ff07162aaf CLINVAR:97350 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7576b9b-1281-4e7d-af2b-d01213ca6bb8 CLINVAR:129867 biolink:genetically_associated_with MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eec60cc0-62e5-421c-b36f-7b7536c29cc6 CLINVAR:129867 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc5c0342-e6fc-4512-b02b-6f49df872924 CLINVAR:10993 biolink:causes MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e02bc9fe-2e6c-4d4f-83c2-c2bf700cc910 CLINVAR:10993 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45a8fb19-0355-4c8f-b058-c3f39d1bd4bc CLINVAR:97152 biolink:causes MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28e45380-fb0a-443d-9cd8-d85d9e81d2bc CLINVAR:97152 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b3c1ea2-d224-47af-b062-b6b4ce253c78 CLINVAR:1504390 biolink:associated_with_increased_likelihood_of MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5be75ac1-e7ff-43c6-9c49-c41433b8bcd3 CLINVAR:1504390 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8091182-e793-4588-9017-974f6dc96aaa CLINVAR:836194 biolink:genetically_associated_with MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen caacf896-3ca2-47ea-8030-09a8b412d459 CLINVAR:836194 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5743325-9d95-4d8c-a6c4-e2362a4c352f CLINVAR:449382 biolink:causes MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49f69572-cd58-4362-8088-9418e29192b5 CLINVAR:449382 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c25c0e2-b57e-4562-bc99-e58577ca5315 CLINVAR:451770 biolink:causes MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88456c29-f350-48f2-a5a3-beb8fab0b9b6 CLINVAR:451770 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88ee9bcc-d391-4bab-92ff-27c709e83e61 CLINVAR:97223 biolink:causes MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6352a9b3-8e30-4133-97d5-e35d9c4ad592 CLINVAR:97223 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7417d0f-bbc2-4e59-9015-b03c90ae85c1 CLINVAR:97194 biolink:causes MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81606658-b868-4629-8117-caab08f39d9e CLINVAR:97194 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ab185b5-929a-4008-bcd4-0348ff926e48 CLINVAR:487338 biolink:associated_with_increased_likelihood_of MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9ff52e5-cb69-469a-a2a2-95558128f9de CLINVAR:487338 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dad675e-920e-45d9-91d1-16c1b0126a1d CLINVAR:14089 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen debcf192-036b-4264-a887-b844d6282a7e CLINVAR:14089 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e31b5468-e60e-4c1f-a5e0-ffd4b1848ecc CLINVAR:2578408 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 650c49b3-dd7c-4a3d-9b63-75437b009559 CLINVAR:2578408 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fafdd56d-93fb-4aa8-aee5-e38dfaeb7f18 CAID:CA410676831 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 385d2550-5c7e-40b2-8b5e-f3000cd915c5 CAID:CA410676831 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 439d7b77-1ff5-4b5d-9a34-2a15134850e1 CLINVAR:627237 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b435859-1924-459d-91d5-6fecbcb80a17 CLINVAR:627237 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d940df1a-cf13-4b82-a177-5cd160263a64 CAID:CA410676789 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46e122fa-acfd-4f01-9de5-4dc8070a0427 CAID:CA410676789 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff4190d2-ca96-4944-b85e-b13b14578c0e CAID:CA400032349 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ace5090b-1d61-47a1-b50c-aa3bee67f35b CAID:CA400032349 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87b55605-34c5-40a5-b29a-5c43df1538a3 CAID:CA2262611500 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98934a90-2da8-4ceb-b4cd-f17b7b0f6ea1 CAID:CA2262611500 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e87d929-cf3b-47c6-9871-cc7c337330dd CAID:CA2261369696 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e8c4ab7-2130-4868-acbb-a7055071897d CAID:CA2261369696 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4389c7b9-b51d-414a-a03b-0ec20b307d11 CAID:CA399791504 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ae2402e2-05fd-48af-bf60-2a46b96bb8f1 CAID:CA399791504 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49e3048b-5246-4e00-b071-3cb18d7425bb CLINVAR:1684423 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d749136-4dce-4821-98f4-c815230b3aa6 CLINVAR:1684423 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53ba5974-83ed-4629-8e06-aa6954fc40b3 CLINVAR:617956 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5abc7291-7046-41d4-aab2-de57fd6e42b7 CLINVAR:617956 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2edf04de-7587-4c39-a138-f1c645635718 CLINVAR:2022313 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f57034fa-c8f3-42f1-849d-62bb4306324b CLINVAR:2022313 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2b1914b-e518-4051-85da-10448668c9f2 CLINVAR:802613 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2f12003-91b2-4d0a-940b-8e818254b1eb CLINVAR:802613 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 517067a8-e557-438e-a473-19bb7c599b49 CLINVAR:421298 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dbf54d56-f8ab-4b10-b793-e3cd451f4cfa CLINVAR:421298 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83f2f673-cd71-4d61-abc3-e1b89e0b0f4a CLINVAR:1692635 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b56170b-a05e-4c7b-9ee4-252e25faf2c0 CLINVAR:1692635 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a57e738-81ab-4a51-a0f6-b1122d732f61 CLINVAR:1506231 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c05c526-d517-4035-893c-7496ef22200e CLINVAR:1506231 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 957d6f38-5427-4bd0-9fb5-2463df082140 CLINVAR:427582 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0acd6784-5b97-4ebb-8dc4-cfcb4fa6e80e CLINVAR:427582 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79eb2a46-d33e-4177-8402-18d5175e0d14 CLINVAR:820795 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d827e33-7726-4c02-9287-f7d0856a96d0 CLINVAR:820795 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 947ea575-5fba-4300-aa82-ef2d81ec6013 CLINVAR:2839457 biolink:genetically_associated_with MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98c7f60d-99ad-4c7e-9eef-22e1ead1a9a0 CLINVAR:2839457 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f72ce69-ab1c-4054-aab4-62abe4aaf5ac CLINVAR:25222 biolink:causes MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc1e0b22-87b8-472a-b456-05b2a2007fd0 CLINVAR:25222 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19612d70-e761-413f-a490-0b24ec4eb552 CLINVAR:3618 biolink:causes MONDO:0009258 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76232638-27d6-4b9c-88e0-f6890f048157 CLINVAR:3618 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36b4ba0b-2a56-49c0-8b37-07eb85b025b2 CLINVAR:37355 biolink:genetically_associated_with MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9b8dca6-5635-451e-afdc-fd6ec0872866 CLINVAR:37355 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b8971bd-b8e5-47d2-832e-6eb0e052853f CLINVAR:25325 biolink:associated_with_increased_likelihood_of MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb313c06-2554-41c5-b4d5-c44206e21d79 CLINVAR:25325 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75c3ebdf-e52d-4ccc-ad56-0266c700e8e1 CLINVAR:25285 biolink:associated_with_increased_likelihood_of MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22d20fae-db15-40a0-a7cd-4b055cf94489 CLINVAR:25285 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91fc78a9-efdc-4aef-922a-29b08f6ee4e7 CLINVAR:25137 biolink:associated_with_increased_likelihood_of MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f4ee077e-d114-44db-8cc3-71ce8165931d CLINVAR:25137 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20dfcb7b-8136-4cce-ad36-af3d8383ddf1 CLINVAR:25299 biolink:associated_with_increased_likelihood_of MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 813728da-ff90-4e75-a956-49781fbca2eb CLINVAR:25299 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06c3ca3f-c9de-4b5a-9c17-ff214a0be478 CLINVAR:649344 biolink:associated_with_increased_likelihood_of MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8a80fdb4-ab2b-42e3-ae7f-a6c5152f09f3 CLINVAR:649344 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10cdecab-17e9-4fbc-a70c-e4d01d234e66 CLINVAR:760232 biolink:genetically_associated_with MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b1f9d0f-9718-4744-873b-34395b769cb0 CLINVAR:760232 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bc588ff-07f1-4836-89ae-4cee13120f81 CAID:CA259422 biolink:genetically_associated_with MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4bf008c7-07d5-48c6-ab96-31bd379f39ea CAID:CA259422 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0c69207-840b-4037-891c-277e29af1fd2 CLINVAR:2675830 biolink:associated_with_increased_likelihood_of MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa987849-c9c8-47f5-a4bd-6205643f0433 CLINVAR:2675830 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c116664d-02c3-4b11-b576-e7d4553c17e0 CAID:CA3266428703 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 74278d63-e057-4087-9dab-50653468eafd CAID:CA3266428703 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43c48b41-ad45-49ec-9827-41e5f637d505 CAID:CA397317983 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9578035f-23a4-42c6-bde8-79eb709427ba CAID:CA397317983 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4671263b-2299-4116-9afc-cf4db406f778 CLINVAR:1038367 biolink:genetically_associated_with MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78aefc29-fdfc-4523-b117-f57ab352bf49 CLINVAR:1038367 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cc5fed2-395b-42f1-a7cd-d283f8e6d2e3 CLINVAR:915468 biolink:associated_with_increased_likelihood_of MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed20d7b8-c6f9-4f97-9c19-fb7989019f8d CLINVAR:915468 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 308ba97b-3858-41c0-af44-20fd4e78490f CLINVAR:957857 biolink:genetically_associated_with MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36360b0e-9bb7-4b77-974b-de5a68e13c80 CLINVAR:957857 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90f6c89e-c810-4b99-98b1-b06b4e15edef CLINVAR:97337 biolink:associated_with_increased_likelihood_of MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c32a5d8e-d479-4fc0-9231-1dc7ff4278d4 CLINVAR:97337 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a615f2d7-ef16-42ad-9c00-32aeabd34f0d CLINVAR:1720979 biolink:genetically_associated_with MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77ee6e8b-ec2a-4146-9cdd-df95b9289f8c CLINVAR:1720979 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1689d2de-c5d8-418e-99b8-93a423812f29 CLINVAR:943237 biolink:associated_with_increased_likelihood_of MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 71da4f5b-68ba-4c78-8a7b-2b01079cae15 CLINVAR:943237 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de724d09-0379-4296-94f0-1d7a69a8367b CLINVAR:867094 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0ac5fa75-b183-45f7-acaa-1efba16bd6e4 CLINVAR:867094 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa275967-c2c4-4856-9921-ec0c280efc98 CLINVAR:36143 biolink:associated_with_increased_likelihood_of MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 72ad182e-7829-4042-a32c-e37a2fafcca6 CLINVAR:36143 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a1fc4f9-f3e8-4137-8633-1f30318702ed CLINVAR:102783 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d2a82c9-b022-4613-b24e-138069ebb800 CLINVAR:102783 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db7fa1c7-a499-43b2-b7bf-51471afd27b2 CLINVAR:102760 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4804b6b3-1362-4661-9dba-556b3ac1a1f0 CLINVAR:102760 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b545b52-4c7b-41fe-b8dc-808ae7cb3b06 CAID:CA16020884 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b5505db-daa2-47e8-bd57-f44ef5e4a731 CAID:CA16020884 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d50684d-79f4-4827-b1ba-2e6b4e7199be CLINVAR:840575 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 576665ca-65e3-4c52-9f73-bfae988b754a CLINVAR:840575 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5659738a-e744-4cd2-92d9-84890ee4fc6a CLINVAR:4820220 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f524d452-b283-43c0-be0a-f576d5766f55 CLINVAR:4820220 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ead9e623-94a0-428b-b2b7-b0e8e8efe761 CLINVAR:1167086 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f955fb6a-4092-4127-8c6d-e76f865e13b2 CLINVAR:1167086 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07947c81-9234-4d65-a69b-6c3a96696a69 CLINVAR:160208 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc4b0a1d-450e-499c-a391-84e5fc0f3acd CLINVAR:160208 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c777acd-28d3-4e31-a016-6b7fbaf0acee CLINVAR:1180752 biolink:genetically_associated_with MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10ab4e99-aa39-4096-8b3c-58c62f200d17 CLINVAR:1180752 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cc3d0c8-606c-4dbf-8bda-82d864411103 CLINVAR:201154 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff249bd9-025c-4f31-a86b-16b446fe3de1 CLINVAR:201154 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30f15aa6-b311-4b12-bc45-b121035dc93d CLINVAR:657321 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c55c6f09-85da-4973-877a-0375793e4ad4 CLINVAR:657321 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6a0de43-fe0d-49cb-8b5a-ebc72e8f2cad CLINVAR:2635623 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf48bfb0-c45b-422e-80c0-8363cbcbdbf7 CLINVAR:2635623 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95b0c0ee-d15b-4f42-9ba5-a9082aa8447a CLINVAR:1070754 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17c933f0-beb9-4a72-ab28-1f1e07488fb5 CLINVAR:1070754 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a3ee1b5-8c31-4ef1-90ef-7a44daa2bc77 CLINVAR:38561 biolink:genetically_associated_with MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 951edf9b-0c41-4aab-80b1-4f639a9029af CLINVAR:38561 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7bbe799-908d-4301-81bc-b4f084decb2b CAID:CA340745868 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 06089fa9-a278-4e36-a34a-a5ba468c6460 CAID:CA340745868 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff9ba365-f45d-46a8-9a57-2fd581f25690 CLINVAR:25165 biolink:causes MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1257c4cc-b3a2-408f-89ed-743a20ec6a3b CLINVAR:25165 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7beeee7e-65f8-4d18-b7be-53eb49463c7b CLINVAR:2577272 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8853389d-6e9d-4fef-8890-ac4c3280d8b4 CLINVAR:2577272 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1834ab45-e5f9-4f6c-abdb-e05fe59d3843 CLINVAR:25231 biolink:causes MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 766b5ef2-1d5c-44e8-b6f7-82bc9462f7cf CLINVAR:25231 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce3756fe-cf62-4c8b-be9b-6756fb973a24 CLINVAR:1803135 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2cc66f2d-10b7-499c-9ad3-73d42e62c6ce CLINVAR:1803135 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdddf9b7-45e2-4c0e-9da8-e31a5b289f09 CLINVAR:98850 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 341e5e67-eb32-4ebb-b79b-487a7989b108 CLINVAR:98850 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5c78b50-6fa1-47d6-88a6-0443ea8cd285 CAID:CA373279081 biolink:genetically_associated_with MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40b23a3a-5744-4c4d-aa1b-487be05bde9a CAID:CA373279081 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50480c55-06a4-4d8c-9151-34b10825ba0c CLINVAR:92522 biolink:associated_with_increased_likelihood_of MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 70f5367c-ee26-4532-9666-954748e94fe2 CLINVAR:92522 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b08e3667-5adf-41d9-8299-b36ec457bcc0 CLINVAR:3621 biolink:causes MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 863718d1-44e8-4ce4-8773-109956099c9f CLINVAR:3621 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5371f954-c18d-4fb7-8e76-d89cf7313158 CAID:CA340744120 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 223cf9af-fae9-48c3-a499-ff8fccae6d50 CAID:CA340744120 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce4f37ec-2bdf-4714-a0e0-06249c6df6fb CAID:CA373284208 biolink:genetically_associated_with MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2137a34d-c9d8-407e-ac94-f38f6c2236bb CAID:CA373284208 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cabd3a32-eb43-4476-b59b-bd55ab15040d CAID:CA259329 biolink:associated_with_increased_likelihood_of MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73a3bcb3-5ca8-4a0e-bce1-24c53a3fb81b CAID:CA259329 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06c0693c-d8f1-4ebc-81c8-5f0cff29a8ce CLINVAR:25174 biolink:causes MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26752bf3-93f5-4b15-9633-49756391b341 CLINVAR:25174 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60503d33-e0db-4cce-8564-d7c8e2f0a5cc CLINVAR:439751 biolink:genetically_associated_with MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5e07c45-e1d0-419a-bc10-a5fb5100951f CLINVAR:439751 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c352f86a-dd99-4410-ae5d-5e603eb08814 CLINVAR:197716 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29ff8d2a-a53b-4cd6-8be9-d92efb108668 CLINVAR:197716 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ac1c54f-5073-43eb-91f1-91190bfb5f5c CLINVAR:25194 biolink:genetically_associated_with MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a9a9612-456c-4636-83f2-1be73d288ef2 CLINVAR:25194 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9ca5540-6fb4-4c14-b200-bd21fef449f3 CLINVAR:203732 biolink:associated_with_increased_likelihood_of MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ca0c1d08-1185-4f01-8af9-f39c79ff0f0d CLINVAR:203732 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 965a7a76-f3f6-4480-b78a-c70bfae4d454 CLINVAR:2941442 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bdf1310f-a3e9-4300-837c-22917f2b4a8b CLINVAR:2941442 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 217cb643-7cd6-4b95-9a90-22d95102f71a CLINVAR:2000377 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99a135ff-6cc4-494e-ad39-4e7eecfe439b CLINVAR:2000377 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7cb74d4-1e35-4ae3-877a-91d24aafee1e CLINVAR:1066954 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01e12fd7-d700-4f9b-aad6-abcce9d57ad3 CLINVAR:1066954 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fc89af9-0e75-4283-93ac-1844a71343bb CAID:CA902149 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 81e6f989-b528-49e6-a929-f92b2355baa8 CAID:CA902149 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c4ba460-6b71-40f9-af41-193046f86d40 CAID:CA373278809 biolink:genetically_associated_with MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b611bef-8342-45bd-80f1-91a719d6b77a CAID:CA373278809 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2683df4-b3c8-4c0d-8177-1dfc5b04993e CLINVAR:25117 biolink:associated_with_increased_likelihood_of MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17eaa0ba-83c7-42e8-966b-0770f61e2284 CLINVAR:25117 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 165a78e0-c6c9-4b5e-82ca-f6388ed69270 CLINVAR:2945021 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fdd37b4f-3b18-4950-b766-eb6b57169794 CLINVAR:2945021 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c43b446-57ca-4ecb-9079-66e9806e8d58 CLINVAR:3622 biolink:associated_with_increased_likelihood_of MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df394fb5-e0f2-4eda-a9fd-fbd2aad1b90e CLINVAR:3622 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 123b52f7-e6c1-4761-ab18-2427c7c1c75f CAID:CA587568387 biolink:genetically_associated_with MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed7e73ca-2dc3-4c6f-9ba0-997510a3b187 CAID:CA587568387 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ada28e0-7fc8-4bb2-a3ae-438c4ab249f1 CLINVAR:1687586 biolink:associated_with_increased_likelihood_of MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c441bbf-7e6e-4102-ae22-82b5345b122b CLINVAR:1687586 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8511755f-0d84-4872-8333-97fe52400ad0 CLINVAR:951360 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e3bf251-b820-4226-8c72-6b95ff94980c CLINVAR:951360 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 900cdab0-d016-493e-b9ba-de9552759221 CLINVAR:2018845 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9fe0c074-4565-4a25-a2f5-59b44c89f04a CLINVAR:2018845 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc216102-097c-438d-99e6-ccb53c9fe9bf CLINVAR:2675829 biolink:associated_with_increased_likelihood_of MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e36645e0-bc67-4cf4-911e-cf7d1d7857bb CLINVAR:2675829 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ca52272-fd47-4b19-b303-3685c63fe2c1 CLINVAR:439749 biolink:genetically_associated_with MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dcbf8e7b-bf5e-4e37-b430-bf53a44a4e15 CLINVAR:439749 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9b41b62-ff52-4a32-af95-7c8d432da222 CLINVAR:242644 biolink:causes MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f7091ad-33eb-4d7c-8eaf-c5716952a070 CLINVAR:242644 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39871d2f-37bc-4c70-a566-402c77c67dbd CLINVAR:25142 biolink:causes MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fec950ae-380c-459a-84e1-32ab25bffff2 CLINVAR:25142 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 839cc9af-2fc3-4da6-a2cc-99448513dddc CAID:CA405642059 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cff0c541-b0fe-4b41-949a-1be583bf64d0 CAID:CA405642059 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fae96cc-afbe-4753-b7e6-1667bc3a3c6b CLINVAR:133183 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5630025d-a2dd-4ced-9b04-29a104bde2e4 CLINVAR:133183 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29080016-20e1-470e-9983-e70f1c1a8ffe CLINVAR:281479 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a3eef8a-0ae3-48b4-9955-53fb58a4871b CLINVAR:281479 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 864191c7-a8b1-4813-98ff-49e0bd466f1b CLINVAR:133012 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0aac89c4-9f5b-4bf2-8e1d-88f49f29c22e CLINVAR:133012 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c8555b3-4ee3-4ac2-b9a4-aca96319ae09 CLINVAR:133017 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad9fa9b6-d6fd-4b62-8c61-bf5c8dd92b1c CLINVAR:133017 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0090bb65-7107-4fb8-b070-c35417cc4f66 CLINVAR:2438819 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2869e2e4-1565-4d2b-a7c7-31f078e2a001 CLINVAR:2438819 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c95fed9-6393-4fc0-8457-863ea94a0e27 CLINVAR:160221 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 16a42d5a-0654-454d-a68b-aaf0a995f970 CLINVAR:160221 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 374a3b13-863c-4395-954d-5f621c11b851 CLINVAR:2629699 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8adcb815-9b34-49de-a3c8-4a9db1991abf CLINVAR:2629699 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbc762bc-09e3-4a28-91e7-6de5fe15fce5 CLINVAR:1678621 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f393effa-0937-47e6-9aac-5b36b88b9a50 CLINVAR:1678621 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d08673da-a0e5-490f-a2bc-f4664b7a83e3 CLINVAR:918065 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb2ecf03-c92a-4739-95d7-724d9d6c2681 CLINVAR:918065 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d74e1bc-a1e9-4d6d-a9a0-5e61b531db05 CLINVAR:4742486 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 18dec0b8-395a-4c67-84fb-bae7af61056a CLINVAR:4742486 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e0f4e95-994e-4a17-a54e-9a9667c97081 CAID:CA386964284 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2aec323-310c-4622-b86a-8ea5742f419a CAID:CA386964284 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46f679c2-a58f-4492-baef-937810129ddd CLINVAR:4847389 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 268c1982-23a2-42cb-9827-5100ac77042e CLINVAR:4847389 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79f381d1-8c50-4a41-8749-863e769215fb CAID:CA367398398 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 358b137b-3c14-4624-b5ef-d63ef95ea9ab CAID:CA367398398 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1048759-fdba-4abd-94e3-89cdbc7dc381 CAID:CA367397010 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3a71617-adf8-4844-b554-3bbd85306807 CAID:CA367397010 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d87032a2-1b36-42f6-8535-962a4a117404 CLINVAR:288531 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4573e69-9d4b-4fcb-867e-0cea9a2f2b56 CLINVAR:288531 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b77b1399-8b47-4be2-a808-a8201f80f565 CLINVAR:36240 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43736e7e-dcb9-4292-b1a0-3fd8cdc6a3ed CLINVAR:36240 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f00ebb3-330a-4f07-81e9-75c51071d29e CAID:CA409107487 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 97345ec9-b780-41e6-8e58-08099217ca1e CAID:CA409107487 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95580f21-69b4-48b9-bebb-2a99502f9419 CAID:CA409107488 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eadab46b-9b4e-4117-a5d3-5de1e53fdd7d CAID:CA409107488 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a32a3670-54a3-47da-a1b2-700f228ab910 CLINVAR:435309 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81c99327-8433-4170-9ba4-489928af7fe0 CLINVAR:435309 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfe9b905-117d-4e3c-be4c-a927e66100d2 CLINVAR:1801853 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4d0a276-c567-4a4d-baf9-d93a3f2e6559 CLINVAR:1801853 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1941721-da36-4b28-8fb4-d801979f21c1 CLINVAR:435305 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd6778b4-5980-4e13-94c3-3ea2712bad69 CLINVAR:435305 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5713808d-d6a6-4510-b603-7a6e820c937a CLINVAR:1679546 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6923050-3f7d-446c-863a-db0f35d865f4 CLINVAR:1679546 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffeb9513-480a-4df4-8399-ef11eda3130e CLINVAR:804849 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b6f1a56-860d-4f80-a1a3-1a5f19a96c0a CLINVAR:804849 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d8bf76a-0871-4faf-a869-c70a482095af CAID:CA367402127 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed8c1eed-2496-482f-93cd-8202cf1f5d05 CAID:CA367402127 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6324cc1-7441-4750-b1cc-6103127773f8 CLINVAR:972807 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3afcc37-4b49-4d21-ad28-1f96255ddfed CLINVAR:972807 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9665f6d3-42a3-4db3-a8e6-0ce80dfbb6aa CAID:CA4239600 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4f01a99-f9ee-4ee8-abb4-48711df79df8 CAID:CA4239600 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58ab82f3-ffb5-4558-a5d4-81dd1f9951e6 CLINVAR:3600553 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9034db8e-3939-4247-bbec-af75acdf12bc CLINVAR:3600553 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 317ad56d-9b68-4c96-af20-01609d084bd3 CLINVAR:2136907 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1ffc668-7490-441d-8c15-37f2affe336a CLINVAR:2136907 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6ef7235-5981-4cbb-a0f3-5da104465633 CLINVAR:428225 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2880a6fd-1d24-45ee-b66e-600be0541046 CLINVAR:428225 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51bb27e4-0ef3-41c5-b6e7-97657b34a20e CLINVAR:554960 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9042cf41-4c27-4162-9db8-f3d9e5ab13eb CLINVAR:554960 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44a6f082-cd71-41c0-aa11-2f963442595b CLINVAR:43168 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7fa0f12a-8f3a-4b97-94b6-960c604c6153 CLINVAR:43168 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12fb3a61-c4ab-4c34-b356-2b3b74a5109f CLINVAR:447443 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f527ef25-a079-459e-b54d-7455ccf142cd CLINVAR:447443 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a859efb-483c-4c8d-ae47-89e73d179c92 CLINVAR:2126293 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1652d96-2120-43fe-80e0-bc035fae959d CLINVAR:2126293 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 979a2f9c-2754-4169-bdef-b619f85f4954 CLINVAR:2033861 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c57db816-077b-454e-bd0c-0dded09bc117 CLINVAR:2033861 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9409bb23-7d60-4ea3-aef7-3ea374178b89 CLINVAR:2028290 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b2d745c-06a6-4e8b-b450-3a494202bf84 CLINVAR:2028290 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b824b2c-4007-4bb8-80d9-0a779d6f7097 CLINVAR:536551 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4accb905-c534-4eae-b5ca-d6effec5a093 CLINVAR:536551 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10d863bf-1cf4-4836-a6a4-4cdc20bf75e0 CLINVAR:301416 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36001bea-4de6-4b41-a211-1a427d554cba CLINVAR:301416 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01de6dfe-92cc-4063-9080-9cf04ef27d46 CLINVAR:7833 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5118c71-4232-449c-924b-18f2b0568456 CLINVAR:7833 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e44e3d7-6862-4fa0-bd57-fc4d32bcffd2 CLINVAR:1012092 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4eee3507-25fc-4d58-a2f9-64877907c5b0 CLINVAR:1012092 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8a2b7cb-063c-434e-a64a-f3d6a630b954 CLINVAR:481129 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b22b8004-c7e8-43cd-b23d-353cee4d90db CLINVAR:481129 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c1112ff-c178-4a08-be41-9e4692451593 CLINVAR:185200 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5339a7a9-89e1-44fa-b9f3-b5d737f850a4 CLINVAR:185200 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f6fcdac-16e2-41af-bd2e-9179da7ef67b CLINVAR:468706 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d37753c-bbc8-45fd-9f41-c3bcfea1af0d CLINVAR:468706 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c0c860c-e501-4302-9d45-da61621f5b6c CLINVAR:436442 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e55c5f5e-3352-4d25-ad4a-4825615a9ed7 CLINVAR:436442 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f4bac2f-1246-4e8e-9aae-d8db2afe7f45 CLINVAR:421123 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27cf4b94-25d7-492a-b2a5-ce331091ca1b CLINVAR:421123 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 356e1a67-5ccc-40dc-87f0-6e1bdba8247e CLINVAR:428224 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b2f9ee3-4ca1-45a0-928f-473a6f3a37c1 CLINVAR:428224 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0264448-3c40-4c35-98ec-40635da1acc5 CLINVAR:1042020 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb3bea3a-86e2-461c-853f-1ca758bbbbef CLINVAR:1042020 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77c7e974-29d1-48fa-8b9c-92be07e197ad CLINVAR:2447222 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34918111-a083-4377-978a-c02a3f0df960 CLINVAR:2447222 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88055baf-d6c0-4457-8056-2a7a6d4de875 CLINVAR:495246 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13df8913-e28b-4ebd-bd25-cc5674a0f37a CLINVAR:495246 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df995ff2-1eeb-4623-a763-ba121e829e14 CLINVAR:590772 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c9f445c-f47b-44a1-becf-67250f1eb39e CLINVAR:590772 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e87fcdb-0137-4674-b536-7026907175e1 CLINVAR:1305774 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db5f6f67-069e-47c6-94b1-10181a118e0c CLINVAR:1305774 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen