id subject predicate object category agent_type aggregator_knowledge_source knowledge_level negated original_predicate primary_knowledge_source 23a50d72-b994-468d-afed-6b64da37f4a3 CLINVAR:586 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bc605838-445a-4a5f-8cc8-6ad42d2dd08a CLINVAR:586 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c60cb61e-1f3f-4f1f-9bb2-19feb0397511 CLINVAR:102844 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ee9eeb0d-1b0e-4c90-b85f-c4ae429090cf CLINVAR:102844 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9d91807-f3c2-48ef-a1d9-80d5099aeece CLINVAR:102736 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3cc00956-b0c3-405a-9d20-95adea5a418e CLINVAR:102736 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4066c97c-a596-4e68-b36c-bfe345804ba3 CLINVAR:102705 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 06cbbc33-54ad-4125-9e73-a17b48c2494a CLINVAR:102705 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf2bcc78-d1cf-4d3d-97a8-2a651890344e CLINVAR:102518 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 20ae68a5-8f39-4e48-865f-809d40c4ca5d CLINVAR:102518 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dd155e5-40e1-43e5-aa3f-a69fe0344bc3 CLINVAR:102498 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 853d0f2b-655f-4ea5-8d2f-91cf9025a63c CLINVAR:102498 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 743a5165-d94f-40c5-917a-fd01345d0392 CLINVAR:102475 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2a1228de-6814-4ccf-919b-80b8caf95fc3 CLINVAR:102475 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2172b3c-321b-46e2-8f1a-7e4d695881ef CLINVAR:92752 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f05eb0ba-ab3d-415f-8f61-e3bfcf62b0d8 CLINVAR:92752 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 696989c4-2e26-4c35-aec8-72c18435472b CLINVAR:581 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a61e4b4f-2751-4cfc-b0e2-74a632c0e8b0 CLINVAR:581 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62aa4c8a-fa05-4c97-8907-ae9c9971358c CLINVAR:102693 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e007d34-5812-474b-9a6b-9db744e4966e CLINVAR:102693 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99240261-5c7f-44db-9355-e82cd0afea25 CLINVAR:102723 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3b458778-3ab1-4cd5-adba-b978c787b3e9 CLINVAR:102723 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed9b61ae-79d0-4468-83aa-48437264f5ee CLINVAR:92737 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8377afa7-5cbf-4a75-a5ff-81439ef38ddb CLINVAR:92737 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca337e61-6b6b-48f1-af87-b1ddad5073cf CLINVAR:102742 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 59448850-665f-4f20-983c-13e36d929bc9 CLINVAR:102742 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b167a1e4-84fd-4e96-a1ef-5bd8e9dd12d8 CLINVAR:92746 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9c49fb14-c24d-4440-9296-9232bbaffdbb CLINVAR:92746 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 466c54ba-350f-473c-9286-9fce95577580 CLINVAR:92741 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3aab4464-8697-4cca-8678-a03551b7ba73 CLINVAR:92741 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac9cba4f-b1dc-4f5d-aaa0-fc62340e4c01 CLINVAR:306914 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fbecf1e1-b4e3-4bc1-a183-496460749e04 CLINVAR:306914 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 859a8331-7431-4be5-8f6c-7ac85d43e25a CLINVAR:102703 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8230ad1b-8d39-4653-9b72-c8eb02069a5e CLINVAR:102703 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42ff452c-9073-4c3a-abaa-d7cd5c5aa618 CLINVAR:102687 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 743fdb25-ec74-4052-b2a1-0dab8fc0d208 CLINVAR:102687 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0737c0a6-a05b-4d1d-8bd7-4f3320d6331a CLINVAR:102716 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a8f84c5e-355f-4f9c-9de5-2ecd0e33c0cb CLINVAR:102716 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88f488e3-f990-45c3-89c4-de2d811a0cbc CLINVAR:102601 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f398aab8-9896-4352-8a2c-e539fec91267 CLINVAR:102601 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b65060a9-88f7-4bee-b1a5-08d48a793c0f CLINVAR:102729 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 640015b4-f8c3-4ae5-9653-1f60638424db CLINVAR:102729 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 033ddefa-0054-45ad-a10c-bc72e8d05ae9 CLINVAR:102871 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 37bd2545-a257-43b3-8e58-29d4cc1195c9 CLINVAR:102871 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a42a4960-9368-4aed-9647-bf37df019a55 CLINVAR:92743 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 102fa2d0-32ed-44f8-95f9-86534a09751b CLINVAR:92743 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c8d394a-3393-4c34-ba02-e68b5dfd30f9 CLINVAR:102706 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 85c724fd-3747-497c-9a93-d32f796ea085 CLINVAR:102706 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e72fccfe-c219-487a-94ad-3d1c2997eb80 CLINVAR:120273 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e7f11d95-f6fc-4ebe-aad7-df7e258f14af CLINVAR:120273 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47551f8e-e9cd-45ce-96ec-3982875b0522 CLINVAR:92729 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 97d50003-4ac6-49ad-b8ab-8f083197874f CLINVAR:92729 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d882b362-2e05-4c84-849d-ded1f55a2e06 CLINVAR:598 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 30535bef-6d55-4143-9638-d0ec0410ed12 CLINVAR:598 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d357b60-cebb-4cd9-b267-3bd8bfacdc58 CLINVAR:120287 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d9749bc3-8711-45e3-9dd8-78d83e7b7d2e CLINVAR:120287 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9eb06e91-a7e1-4c02-a436-d18b9cebad37 CLINVAR:92740 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba4ad6c6-2e1a-471c-b9b6-886bb0e004e9 CLINVAR:92740 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58db0c83-603d-4d45-a143-512da044d819 CLINVAR:120271 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 30f2d261-916a-4949-a99b-02104854310f CLINVAR:120271 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c23fc14-85dd-472e-9d21-36c09c8c8b64 CLINVAR:225135 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 534460d1-0fb1-432f-ad01-065b7fa8fb1c CLINVAR:225135 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b414ff6-10c0-4c4a-894e-572ec074d6f2 CLINVAR:102821 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 280af501-c2a7-4727-9b20-deff40f58658 CLINVAR:102821 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 631c09b7-addf-4e3a-84ea-6a4557c932fe CLINVAR:603 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e6b10123-7a0c-42a6-8cc8-339cb606d754 CLINVAR:603 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9b6a694-4205-4345-893c-cc3773f24456 CLINVAR:599 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dfd21366-da4c-46c8-af12-1fc988418ab6 CLINVAR:599 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61990458-0f39-4e53-9896-01993a2945d8 CLINVAR:632 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5a13e2f4-790b-4fde-a6ad-9ab8bc4a9aa1 CLINVAR:632 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9b19a5a-2ea5-4893-b2a3-a69fdcda8c11 CLINVAR:102483 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e0674f34-63d0-4933-8ab5-38b95d262852 CLINVAR:102483 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dba6773c-7565-4c1f-821f-cca21fafa054 CLINVAR:102557 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d53ec154-6afb-49d8-8597-31c2bb7558f7 CLINVAR:102557 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adf7d074-9467-4f61-83d9-687dc5efe00a CLINVAR:102696 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a8aede8b-f5e3-47e9-9f02-e665baaabac8 CLINVAR:102696 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3de30852-2730-43b1-890d-d6376ec59cfc CLINVAR:102913 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9e9d1256-3039-42f3-bbec-02d4d2bc00ce CLINVAR:102913 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf631237-152b-4046-b606-79a6ced4fb99 CLINVAR:281073 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 82a86ca6-5f46-4315-a6e6-24c88504c9d0 CLINVAR:281073 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10181dd2-d0a2-4745-89b9-855863b4af61 CLINVAR:439228 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 695be8aa-5c14-45a2-ac5a-22b481b3a6a2 CLINVAR:439228 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d68aaca8-9b54-4248-a994-743b3bfcf9a2 CLINVAR:92742 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79970217-c789-4d12-8c46-36bf73d4b130 CLINVAR:92742 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen becd4cb2-22f4-4656-9057-dbdfebefa17c CLINVAR:577 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 602a4b08-932a-47a2-9f09-548aa760a6df CLINVAR:577 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbaf525a-021c-449b-a310-ebeb9783b307 CLINVAR:596 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b2ae326a-1c58-4c85-8de6-5464ab9de85d CLINVAR:596 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1438a848-0b4a-46c2-a831-04f13a349da6 CLINVAR:102650 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 27b00dee-c072-4d3e-9033-f3778523ff01 CLINVAR:102650 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffee5f48-bfd8-4d4f-8f02-f2876d2938b9 CLINVAR:607 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 56e8b505-7788-472b-8c83-ed5d1e02d85c CLINVAR:607 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6622c04-5c66-4d88-96fc-883f6c732e6e CLINVAR:617 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ea442500-6b27-4ebf-9d3d-78eb83c5c279 CLINVAR:617 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfc55672-808d-447b-9f1c-bf4b3db276b3 CLINVAR:610 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 10fb6f09-59ce-4ac0-882c-de9e56dca3d3 CLINVAR:610 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad9e4216-cf3b-4cc9-9480-450b03ab4bd1 CLINVAR:576 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 88dc72a3-e4e2-4575-b9cc-711ae324803d CLINVAR:576 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98f69f03-f140-4b32-ad76-19ad439ea796 CLINVAR:593 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c8d6dd21-90b9-4b0a-b773-3cc21cb6a07f CLINVAR:593 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bb5408d-6cae-451d-a457-cf463bd997bf CLINVAR:582 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 126de7a2-53bf-4ad8-8673-5a8b9c559e45 CLINVAR:582 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 776454c8-492c-41fb-9b34-313da8380910 CLINVAR:592 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 04af535c-6715-48c1-a603-4aff55a6acef CLINVAR:592 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7923e30b-0b0d-4061-bc06-40cff307d8f8 CLINVAR:102632 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 222910d4-0de0-4069-9eed-94ab5edff2ae CLINVAR:102632 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92a4d99f-50a2-4f65-a0d0-45c6a25a077f CLINVAR:612 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d3c30c04-6761-4108-ab9a-868ef23bbc86 CLINVAR:612 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82475dab-9ab7-40d9-a10c-6e08f0bc5ad4 CLINVAR:376937 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f1390c92-4fe7-4cd2-94ee-4589a2fd39d3 CLINVAR:376937 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e052ca5-9fcc-44fa-b5b5-e994b1f9976a CLINVAR:619 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e18be1a3-f9b2-4082-b6c3-d199a96b21b7 CLINVAR:619 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87612925-f28c-4fb7-afca-53c797ebb914 CLINVAR:102784 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e4ff1590-c625-4a9f-9c56-4a156f5571be CLINVAR:102784 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55e280d6-a438-4e40-b23b-5a077f82d880 CLINVAR:628 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2019b6f8-1bd6-422f-b529-fa5f2ad2d60f CLINVAR:628 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ef67490-20e2-4a30-b48e-80d8a668add1 CLINVAR:594 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 82cb4ec4-bbcf-4959-bd4d-42a8e4fabe96 CLINVAR:594 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5666b417-a3a3-47fe-8dba-3e8b21435f0c CLINVAR:102803 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 69d4bf96-ca91-4888-8a75-7ec79978673d CLINVAR:102803 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cddb62f0-f00c-46a8-aea1-a3c4c80ec2c3 CLINVAR:102804 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 70f3c350-f2bf-4375-85a5-48dd5ab84541 CLINVAR:102804 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f7ea43f-875f-4669-98bc-a2c3c334539c CLINVAR:92731 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3cbd28ca-22be-4c80-95f1-781a2cfd7e2d CLINVAR:92731 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff7c2964-1227-4faf-8d11-778b87c27d4f CLINVAR:601 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 158ad8dc-64e9-45c2-9131-9c27c6d31ffa CLINVAR:601 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c9ada0e-6c12-4677-a5bf-0bfea1e39b39 CLINVAR:625 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0f4dfcea-1e0a-4ca8-9d9a-d76492ea3d39 CLINVAR:625 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff3ad279-8b04-4472-b680-4c0dbd2d01e8 CLINVAR:92751 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b676755e-ef05-47c6-b4e1-a4159dcfaf74 CLINVAR:92751 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5257b91e-7944-46d6-8180-b83c0b093d86 CLINVAR:588 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9c1987eb-47bc-43e6-ab22-e824cfb5d84d CLINVAR:588 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35bb6e9c-78d0-4f64-af33-58d5630f845f CLINVAR:584 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d214fa4a-5c89-4c54-ab9f-3cba7e5c63df CLINVAR:584 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 981bcda3-9968-46a9-ab5e-547bd970b341 CLINVAR:102824 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8b205184-1816-4b47-b6e4-20986cecc775 CLINVAR:102824 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4914d775-fc93-4126-871e-746820c878e4 CLINVAR:92747 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 48ef636b-a4ff-4c0c-89cb-6e1744ab91a8 CLINVAR:92747 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59568b95-0486-46e1-897a-d328f43a847d CLINVAR:92753 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 122deb62-9acb-41da-b53c-9a528bb7f8ec CLINVAR:92753 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f9f37ab-1dad-4fa2-9c64-9b41461e71fe CLINVAR:618 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7bd80237-2807-4dd9-96d7-da6a71cc0c51 CLINVAR:618 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c82058c5-aac3-4e26-8183-09c5414c754e CLINVAR:102720 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fe384e0d-55fb-49ac-9375-9f40c5d43752 CLINVAR:102720 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aed0bc39-a1eb-41cf-afcd-92f190d27da6 CLINVAR:92744 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 35bf5081-8a25-424a-88c9-f9bcbf28d43f CLINVAR:92744 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d3b2e41-2083-4f5d-b1a2-b27932fbaed7 CLINVAR:102698 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 58aa6253-3d0d-42a3-a382-e2e58273d1ec CLINVAR:102698 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a632510-b62a-4bfa-9b74-7f063a199de3 CLINVAR:595 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 64d7b1c3-4d4c-4128-b916-85988d6c42c7 CLINVAR:595 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9578e034-8e48-4d84-bdca-746844f2ea1f CLINVAR:142269 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6c16d4fb-d9fb-453b-9075-01fc30cfb701 CLINVAR:142269 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d99f863f-3ddc-4d42-983d-9c154db8e1f5 CLINVAR:127662 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b889d55-966f-496a-81ba-16b2dc598568 CLINVAR:127662 biolink:is_sequence_variant_of HGNC:37212 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30117833-d001-4373-8df5-3141106fdeb7 CLINVAR:185989 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f797d688-8e09-45bd-b5c7-8024092031d8 CLINVAR:185989 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62c44bf3-054a-4bd9-848c-9709cad2ff4d CLINVAR:142681 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dfdfa365-4b47-44fd-9ee4-6b989c894aee CLINVAR:142681 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbe28ff6-6818-43f8-a686-5c680aab7013 CLINVAR:127687 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8b4aae67-a501-456d-8133-be7b5c2bd37c CLINVAR:127687 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b05602a4-c35a-467f-bb80-68ee641b4fcc CLINVAR:187673 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 24e15847-3b41-48c0-a94b-eeabde89c33c CLINVAR:187673 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51f8588b-8184-46c6-9662-eef608f28ffa CLINVAR:7844 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3cd65473-92aa-49f5-ac93-9b6e7006f936 CLINVAR:7844 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48294026-5cf2-4786-b8f8-fa04b5ce27d0 CLINVAR:404147 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4006fb3e-965e-4f7d-a534-df7d07957619 CLINVAR:404147 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2d6099b-cd42-458a-8123-52aae4ef7b20 CLINVAR:184104 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a317cf97-5f90-49dd-9420-1175576cbeba CLINVAR:184104 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b9e5fba-f636-4fcc-904c-085e01da48e4 CLINVAR:187590 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 00ac95c2-10a0-4042-b17c-72ed456b7cd7 CLINVAR:187590 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa64e155-bfe1-409e-b3cd-ad2c1209e7d3 CLINVAR:189462 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 47457bb2-63f9-40e4-aa0c-50428ac9a138 CLINVAR:189462 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 026f2152-b11c-4575-87b9-e24d4f2993c2 CLINVAR:189441 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2fce254f-3eb5-4c3e-aa1d-528d3af4f841 CLINVAR:189441 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73b70d52-f053-40cf-9e12-de08eb3ed701 CLINVAR:187657 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 25430b5c-667b-4285-bfcb-237bd878518c CLINVAR:187657 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5df7c5e-7539-4c3b-802c-f4419c476f5c CLINVAR:185213 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b4d4656a-3622-41ec-a806-fa37346fd580 CLINVAR:185213 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74ba8b45-6948-4ee9-b145-4abed4aa920b CLINVAR:189411 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 49a92629-710c-49b8-8a58-4d3f2a574810 CLINVAR:189411 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bc27d3c-7b84-4501-8204-d8cdb9e821bc CLINVAR:141654 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 87c63ef1-2da6-41c4-9228-37eed2887108 CLINVAR:141654 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28a0e133-7d25-4704-a4a1-ed18b638e1d8 CLINVAR:141485 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6019efe1-a6d6-49ac-8f0c-98611213959c CLINVAR:141485 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 141d9d8a-9ece-45f2-ad0c-b296abfb5bfa CLINVAR:220007 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6ee3810d-bf9c-4fec-9a27-22cfa5daab82 CLINVAR:220007 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89622e69-4c43-4b39-bea5-22e93ed97939 CLINVAR:404140 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c6895b4c-ea97-4899-8e2b-49269fd65e40 CLINVAR:404140 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eda18d6c-4b63-48c2-8de5-054c4e277514 CLINVAR:92816 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d40e8ab8-1b45-4542-8af9-1e8391e9f7f5 CLINVAR:92816 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9f91183-ba20-46df-bb42-27e594a81aad CLINVAR:142423 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3836b859-424c-4a0e-b07b-13a118351192 CLINVAR:142423 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e785f88-a61f-4106-944e-3f74730ae605 CLINVAR:183722 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 879b772f-1316-40a9-8c9e-48c123700300 CLINVAR:183722 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f800870d-9720-4b25-9831-230239a3634b CLINVAR:231916 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e1626d30-78c8-4139-8c2b-89bdf30e7f4e CLINVAR:231916 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90667dba-cd4b-4178-adb0-0723499bdb36 CLINVAR:7829 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 42ed389d-470f-4007-a75a-936977e33a72 CLINVAR:7829 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f91bf78d-fdb5-4947-984a-24a0283e0ac8 CLINVAR:189406 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8f0e79c3-c21c-49c3-a1fb-b949819a6079 CLINVAR:189406 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38d7bd20-89c8-4821-a0ad-35c431b00863 CLINVAR:189500 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 37d36e62-ca8f-41ac-bafc-d8311867b7c9 CLINVAR:189500 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aba7f694-c6d6-4efd-85f9-600b42e159e3 CLINVAR:92822 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c84b412e-4548-4a37-946f-cae22ac4a336 CLINVAR:92822 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dbe5afb-cb09-4774-95fa-cbbdcda797b2 CLINVAR:127674 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af24a960-371b-44ce-946e-ce0133787cb1 CLINVAR:127674 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa603119-ce09-4fa3-8c67-dde6bc99536b CLINVAR:189424 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d1a139e0-f444-4db1-8891-555b32de7bb9 CLINVAR:189424 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b26c8a73-260e-4929-919f-0d0f660726d6 CLINVAR:7824 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen afd8a610-ead2-4e60-9f3d-6065a91c557b CLINVAR:7824 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16b73bde-567d-453b-8099-0f1796daae5c CLINVAR:7814 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 370032ac-14dc-4d4f-b624-14243534eb17 CLINVAR:7814 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3833032-4bcf-4f3f-9c0f-328f250b258b CLINVAR:7834 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 51703193-8348-4884-989c-92850816fcdb CLINVAR:7834 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1aba0587-906f-4f49-bfda-5e7270381f72 CLINVAR:7815 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5eb4989a-a265-43d2-b1c2-9cc97c610155 CLINVAR:7815 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d9c3da8-8087-4117-ad73-2c6433de2942 CLINVAR:7816 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 55bfcac2-b1b6-40c3-a368-6f49818f8a20 CLINVAR:7816 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 891ec07a-5dfb-4f1c-8546-1d8c9c29c626 CLINVAR:142220 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 73cbf3bc-f1b2-449e-b8ea-fdb1a29be180 CLINVAR:142220 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c3ca7eb-e3bf-443d-b1e5-ab0d8c8d585f CLINVAR:6613 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 64c92fbc-d636-4ced-8049-fe4e87243bfb CLINVAR:6613 biolink:is_sequence_variant_of HGNC:2180 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15724b6f-907c-48bc-a35f-c211c7a82a28 CLINVAR:585322 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 957fc6c6-e6ae-48b7-afc4-4efb1b7cf22c CLINVAR:585322 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d63ef9ce-db0a-4985-834a-1036cad49f70 CLINVAR:585327 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5aaf1bd-a7e5-40d1-bd81-44227b64b135 CLINVAR:585327 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2f56ff9-bba4-4158-a3cb-1d6f83329aa4 CLINVAR:17014 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3936ced3-2812-4662-b5e3-0747358db1c9 CLINVAR:17014 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d90446a-4af3-4caa-948e-876cd133b373 CLINVAR:505302 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 64a111de-9585-4cef-a17f-1b3e884a6938 CLINVAR:505302 biolink:is_sequence_variant_of HGNC:6298 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3432130d-0cf5-40b9-9ac8-a5fcbb9d7cde CLINVAR:17004 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 58625cc3-69eb-4b66-8377-70ddb1f4d57f CLINVAR:17004 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5a63ef6-3152-4a45-91eb-1152e794ac08 CLINVAR:44740 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1e2620ef-969f-4774-a3d5-dad5f1702c41 CLINVAR:44740 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bff96b82-1c70-4e6b-9a06-60240b94ffd7 CLINVAR:177859 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 26339609-16d7-42b3-8c0f-222c45861cad CLINVAR:177859 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f34d394-6741-484f-b862-336b1c61f29c CLINVAR:506273 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen de9a032c-14bf-413a-acfb-bc4251edb6bd CLINVAR:506273 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 851f5965-5625-467e-9158-877639a412a5 CLINVAR:166499 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 648ee1fa-6b32-404f-aded-7c73c0d511ee CLINVAR:166499 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen feab4875-23aa-4cd4-8df8-4d09b9469cbd CLINVAR:198366 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d18e0e96-36fc-485a-866f-a5a02bbec481 CLINVAR:198366 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33ef05a6-efd8-48b2-a69d-3d3905618d58 CLINVAR:43546 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 99e40bb6-128b-48eb-a72c-c9c014827d51 CLINVAR:43546 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83d9e52a-5105-4945-a5e9-8d4f999e264d CLINVAR:179542 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e08dc3e6-d14c-440c-a579-9e79a99666f3 CLINVAR:179542 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09d1df74-15e9-454a-a087-f75a2cd7f989 CLINVAR:517357 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 183e5eb9-10b9-4507-aee2-ba1ed11fa9b3 CLINVAR:517357 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ccdc749-1711-4ef8-b949-2b6e6c633eb5 CLINVAR:178957 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cd739db5-0d14-4be2-bec6-101804098008 CLINVAR:178957 biolink:is_sequence_variant_of HGNC:7605 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e338189-3abc-4401-8531-92735fc69224 CLINVAR:228491 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 693e9e68-c6f2-40c6-8432-d943c1c6bf31 CLINVAR:228491 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9891df20-95c0-476a-ad20-85177a7ce4ca CLINVAR:161326 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 890f8f38-47d9-4ca7-883d-9faa8db2f26e CLINVAR:161326 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e125691e-3c8b-4d51-af64-e4de2e1aed0c CLINVAR:43085 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a716839a-27b7-43fd-ad49-c01b58ac4acd CLINVAR:43085 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81616339-9f11-4b47-b684-b3effb1c5906 CLINVAR:43029 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38b19440-2461-4327-ac97-a50d2e52e5e4 CLINVAR:43029 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbc6f498-68fd-42c5-a913-fa8b9b79e35f CLINVAR:42965 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9f4a2d19-c3de-4121-a51c-3c1ab5e1529a CLINVAR:42965 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcfb90db-d4a4-412b-8e82-4859faa020ba CLINVAR:43011 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d74e5cce-4a3a-4b25-be6f-d0fc9476aecc CLINVAR:43011 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48ece77e-a462-494c-b074-73dfe4e6b542 CLINVAR:43005 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c89ad6ee-0a3a-47da-8333-4182fefff8a7 CLINVAR:43005 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c86a9773-ae69-4056-b787-43ed4bfdc04e CLINVAR:43003 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 76f00f34-f1aa-4cb7-94fa-27b37d8c19af CLINVAR:43003 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 411457a9-1b96-4639-8884-46a4aea0ce34 CLINVAR:42992 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aab817e6-9de7-4ff7-ae7d-bfb43910725a CLINVAR:42992 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82b0bcf6-b2c9-49c9-8e9f-50a5422d81e1 CLINVAR:164294 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9c933c21-d10c-4845-bfe3-df2416d31961 CLINVAR:164294 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e9dad0c-628f-49d4-a599-529f80df3461 CLINVAR:43088 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8c317990-9133-4401-9ebb-23506eb22a22 CLINVAR:43088 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2116029-aedf-484e-af08-d07286d74cde CLINVAR:42968 biolink:genetically_associated_with MONDO:0009144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d2a3851-71a6-4eb3-890f-eaf746e87cbd CLINVAR:42968 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 306b141c-dc13-40ed-a1d5-952febc2d954 CLINVAR:42950 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0c682994-3c1f-495c-89ce-2e748105c140 CLINVAR:42950 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44ad8c8f-5d14-46eb-a7d6-cc2600d0a50b CLINVAR:155814 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 640059c0-a1ee-4b9f-993e-7fb2bfc846e8 CLINVAR:155814 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20bd7ac3-181e-4b0d-8a3e-950d6f763523 CLINVAR:177753 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 22bac761-be2e-40d3-9596-56547762ec41 CLINVAR:177753 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 952ecc5d-13a1-4365-a1b3-7cdbae97ef4f CLINVAR:42934 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 13a6d524-2413-41b6-8024-417bfbbd4f6c CLINVAR:42934 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1612a713-9476-404a-b822-ab3c558c3c20 CLINVAR:14097 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5262e2a4-8316-49ca-b923-7843cc647a63 CLINVAR:14097 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0368dec4-2472-4d9a-ad72-966ab37820da CLINVAR:14125 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 421b2329-e6ea-4038-890d-4e413dab6fb9 CLINVAR:14125 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac8d3f80-1d98-4849-acee-47af22820536 CLINVAR:42922 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1589696d-749a-4a9c-ab41-77a51bd14301 CLINVAR:42922 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c7e14bc-e4f4-40bc-baaf-11b89602a09a CLINVAR:14120 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ecb755a-91ad-4af3-8c76-3eee8a5d7d72 CLINVAR:14120 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d17c96e8-41e0-4a68-b726-49892b928c11 CLINVAR:177757 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8ce5254a-ef11-4a31-a5a7-32efc3561a05 CLINVAR:177757 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8521a35e-e1ef-472c-9a71-f2f839eabdff CLINVAR:42913 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e4c9b8b4-5198-4307-979d-14f422eeee9a CLINVAR:42913 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2138b2f0-b02c-4a94-8fc5-38a0fcc5f01d CLINVAR:42910 biolink:causes MONDO:0005201 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0522050b-5c64-4712-89d2-03e314413b80 CLINVAR:42910 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49600127-6478-4476-b3ec-e3a6a7f2c40e CLINVAR:177665 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b855719c-a0da-4169-8b14-a40bde8c63de CLINVAR:177665 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a9c108a-915c-4f3c-b55d-47306c077cb9 CLINVAR:14098 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1333ed72-e01f-4d70-8c55-b5d4b84dc6a6 CLINVAR:14098 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7fbd021-0165-44fb-9f25-fe4a5d95551b CLINVAR:164342 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b9d65263-dd02-43e1-8297-309f43eda2bc CLINVAR:164342 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d89f9e83-0fd3-469b-93b6-c7ca9c1147ba CLINVAR:14095 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9f58ce16-afd4-4bbb-9e90-2933bf671ec7 CLINVAR:14095 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3448afb-8d85-4899-b680-dc8f1857d23e CLINVAR:42885 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 08f17394-4365-42b5-9e31-6a2c60fde7dc CLINVAR:42885 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2814a741-cf8a-481a-8ae8-87ac006e0647 CLINVAR:43076 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c8385124-5548-4a27-b67a-73af1abf8cd5 CLINVAR:43076 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85db41fc-1c52-432a-8229-486d5aafed53 CLINVAR:43069 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 644e81ba-6e03-4ef2-a09e-a9eb0ae60118 CLINVAR:43069 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a016009-0715-420d-978a-04508e953ab1 CLINVAR:177697 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 991e7df1-d666-444e-93f7-da1e0a67c508 CLINVAR:177697 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c12040a-7927-46ac-aa31-2c0d38e0afba CLINVAR:177629 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f06834c1-a44e-46db-a3b9-c91ff565be1e CLINVAR:177629 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 861eba41-ad5a-49e5-8483-185515a23551 CLINVAR:43059 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 112a929c-26a0-496b-81fd-4eddd70b380a CLINVAR:43059 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 346b8ea2-db41-4236-be82-b270d891cdae CLINVAR:14107 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 31bb1336-17ca-4d62-b3d0-09385fcc6730 CLINVAR:14107 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72da8ab3-aff5-466b-98c9-01fd979dcd87 CLINVAR:14104 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ed354f9e-d14e-45dd-b451-cd2f38ee962d CLINVAR:14104 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b582b590-9d4a-4312-b96a-163cc8c66917 CLINVAR:14105 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 790b89e5-c159-4ee3-b6a6-1860ce08ade6 CLINVAR:14105 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35522362-4aa9-48ce-967e-57e45e1bb9c8 CLINVAR:42875 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b569aa8c-499f-40fb-b33d-9a654ced6dd0 CLINVAR:42875 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd09c132-0ce4-41b6-ad5d-3617b18aab16 CLINVAR:14090 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aa9a960e-d45e-4c79-aea0-674335c64d9c CLINVAR:14090 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a370aeb-2181-4cab-ac6f-f8b3a1e290df CLINVAR:14108 biolink:causes MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f3c336cf-e0de-4c3b-ab84-a013b537f2ab CLINVAR:14108 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bc323d4-0964-4d0c-a048-ded51188cfa9 CLINVAR:36642 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba28194c-f130-4907-8da4-7b3708fdc6a5 CLINVAR:36642 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9eb71f98-cc27-4d9f-8db5-25021f94d743 CLINVAR:177817 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c060a50-ab0f-4a66-a064-b231d9718be3 CLINVAR:177817 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81afbf04-e1a8-4adb-a6e7-f257e481120c CLINVAR:14087 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a0851600-b9db-4fa9-8384-e0e32c7fcf19 CLINVAR:14087 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f217dee-1f72-4b6b-a1e5-644ad9ae19b1 CLINVAR:14102 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e487a248-022d-44db-af29-93453873ca0d CLINVAR:14102 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b746a869-603d-436c-bd05-bfd9be4d5795 CLINVAR:42838 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bdb36660-3a44-47dd-ad8b-3bda0d085efb CLINVAR:42838 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d76e57a9-1348-4399-ab10-e23b376f5d2f CLINVAR:164378 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 956677f5-1ed6-4504-af9a-df8f80703c93 CLINVAR:164378 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82737437-fd1e-4d25-9ff2-d1481788af06 CLINVAR:42822 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 16421ad6-d107-46a3-8f92-29be38444522 CLINVAR:42822 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4384ca20-8f7c-4613-8df9-e6a95930c59f CLINVAR:43106 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e4bfa304-7f60-4998-a0cb-88fadfe61bb4 CLINVAR:43106 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f610743-b588-4d7e-b8f4-601b29216056 CLINVAR:43006 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen efae7382-a93a-444a-9266-c1b27b7cccaa CLINVAR:43006 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 722d0b24-8d79-4308-8721-12d349757de4 CLINVAR:40649 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2d2f4b60-de75-45f5-a19c-6d3214f5a247 CLINVAR:40649 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43022b29-3837-4898-9c14-1d1a75aeb2c1 CLINVAR:181528 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 03a4132c-d13e-46e1-ae48-b04ddbd63df2 CLINVAR:181528 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83356057-f5ca-49e5-a36e-5ff76a70dfb4 CLINVAR:40634 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4486795d-a6b8-4936-823b-e26cbf7f9db1 CLINVAR:40634 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5ee4fde-6cb5-46a7-8c63-f95c5cb71522 CLINVAR:6821 biolink:causes MONDO:0054637 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 91403b79-fc82-4ced-b30f-e5daad2a9684 CLINVAR:6821 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16c11527-da44-47d2-a398-8b1d5b48553a CLINVAR:40601 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1c0fcdaf-be25-422b-82b5-4440b31a755a CLINVAR:40601 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1bb7b12-0a85-417a-9ecf-0ea13352dc5c CLINVAR:40607 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e263fd79-9836-4a7c-8944-4c8a4c56dd5c CLINVAR:40607 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a7d4582-f75b-478d-b067-79b85cdae542 CLINVAR:40600 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1b843e13-d134-4be3-91f0-ecce14240698 CLINVAR:40600 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed66f893-63b5-4091-a4b6-6555d610e7a2 CLINVAR:40612 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dfaea45a-d3bc-409e-9447-a8f31822a852 CLINVAR:40612 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4a5e47e-6dcd-4908-afa3-994ccacb08d6 CLINVAR:40613 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 02444cf4-7909-41f8-8d9f-d30281e37dac CLINVAR:40613 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 255be06b-a080-4641-b25f-77a341d6a67c CLINVAR:40614 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a3ddb258-d5e9-4faa-adea-5ae0ec741be7 CLINVAR:40614 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95eb4410-87a2-428b-8636-20d1d11595da CLINVAR:40520 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ad0c884a-4b66-47b3-849e-826a8ccf5069 CLINVAR:40520 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98a9b32a-a007-413d-a653-84536d0fdc34 CLINVAR:40567 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 829e6e2d-89cb-43a4-bc8a-7aead6411ef1 CLINVAR:40567 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6cbd996-9ed6-44af-a810-12965b1a1f03 CLINVAR:40522 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e7d3d4e8-d5bf-4991-80b2-66ddb61f84a9 CLINVAR:40522 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31a2cd09-68a6-4fca-871f-aef9d8a1f375 CLINVAR:13344 biolink:causes MONDO:0007893 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1a66aa89-d3cb-4f41-91cc-b0c5ea371009 CLINVAR:13344 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4db8e848-8362-40c1-b117-f76a6253c824 CLINVAR:40504 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e7d8aedf-545a-420d-9495-7cabb9f34433 CLINVAR:40504 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78cf0fea-02c2-438d-8b61-2cc88ea1fcd6 CLINVAR:40484 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ab4821f7-466e-4f2e-9387-c711ef0c09f8 CLINVAR:40484 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56e95500-e0d4-43ed-acea-420e9e8918a4 CLINVAR:40786 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc601a62-9a3b-42b8-b5e8-e39447c03619 CLINVAR:40786 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d072a8c-b74a-4f9d-8ec2-dd20a9dccc5b CLINVAR:40813 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 76970ca7-c546-49a0-815e-f0f8a29c06af CLINVAR:40813 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d556739-3318-42cb-a9d4-c03a2b725d40 CLINVAR:40779 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bcf65762-0caa-43b7-a1ea-16c76f46cdc3 CLINVAR:40779 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1912afb1-bb4e-4c30-80aa-2db2e79d32df CLINVAR:40452 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d7938191-3a3e-4461-90f7-4d6671a3287e CLINVAR:40452 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4c0d404-21cb-4622-a8ca-643920b8a7f6 CLINVAR:12594 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 88a3aa00-b0a5-4b15-ae82-b36dc0b2d3f8 CLINVAR:12594 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5beca99-0966-4404-b586-5351da927893 CLINVAR:40435 biolink:associated_with_increased_likelihood_of MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fc8f32e8-fe87-4dbf-b277-95796920dba4 CLINVAR:40435 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5248b3eb-8e12-43ed-842a-c59b258f346e CLINVAR:40439 biolink:genetically_associated_with MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 478dd61f-0bf2-47f4-8159-89329a6c8c0e CLINVAR:40439 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4d5cdbe-b9bd-4c0b-a2e0-ef368b8a306c CLINVAR:177672 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c3eff605-0da4-4607-814b-096d36db528a CLINVAR:177672 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9426afa-ec49-4c00-8dbe-98b680cb4e08 CLINVAR:40380 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e7efddff-fbc0-46c6-8811-023f732c4e54 CLINVAR:40380 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dddb4ea-71bc-46a4-a4b4-e217026fb99e CLINVAR:40387 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e522f8a0-d3b3-409a-b7fd-d0d0ae1fe3bf CLINVAR:40387 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ef48b86-bdf1-4158-8ab9-df2fec17719c CLINVAR:12586 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d1047f5f-d49b-45c4-8e7c-c1af1818fcc8 CLINVAR:12586 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15577c56-cb8e-4191-aead-99cb6db77b15 CLINVAR:40454 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 038a0735-81fd-4834-a518-c41178155cdb CLINVAR:40454 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 024eadc7-c19e-46bd-bacc-bfb17ab40e65 CLINVAR:12587 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6ffdf251-e692-47e8-96ef-49c982e25051 CLINVAR:12587 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37ec9b62-3201-4baa-91f4-61e642f0c3a6 CLINVAR:12588 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2a04718b-542d-4103-8414-31b60db9ed53 CLINVAR:12588 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3dba9eb-e39f-4392-b736-a57cd1ee2ec1 CLINVAR:12589 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 06b7bd95-9b8f-431f-868d-ed6bea1f5422 CLINVAR:12589 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25a11ff8-8d16-46f1-be52-68b93ff6c936 CLINVAR:12610 biolink:causes MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 34c7a6b8-b92e-4c1f-80a8-f36ac2432c6c CLINVAR:12610 biolink:is_sequence_variant_of HGNC:25430 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 478129ca-3713-4d95-82f0-abc15298c47e CLINVAR:12602 biolink:causes MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2bc4aca1-b15c-40f3-ac78-73d40e6a67f6 CLINVAR:12602 biolink:is_sequence_variant_of HGNC:25430 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac5b07cd-f48a-4ca3-97ab-26e378023098 CLINVAR:12605 biolink:causes MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 009e03ed-43f9-4436-b503-d8b53db3b6cc CLINVAR:12605 biolink:is_sequence_variant_of HGNC:25430 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c695077-4b4d-46a5-b7d3-702f7b04d43a CLINVAR:12606 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1a3af1d3-61d2-42cb-950f-07384af72011 CLINVAR:12606 biolink:is_sequence_variant_of HGNC:25430 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6fc13c7-b058-4193-8c0a-339de414ed42 CLINVAR:12871 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a8ed4697-b1ef-4614-8814-e27c100ffdbf CLINVAR:12871 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c37fa5d-ac72-4496-a5d2-58d7ad81c366 CLINVAR:40678 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c35abc29-e600-459b-be4f-e105d0e2cfec CLINVAR:40678 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 468857db-a94d-4baf-b24b-b7a3760ed0ec CLINVAR:40662 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aecacc4a-3bf2-47c6-8e99-1ef7349e0506 CLINVAR:40662 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e46d57c9-93d2-42fa-a0f4-dbae8d1eee24 CLINVAR:40706 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e0397c8c-5dcc-471a-a5f3-d9efe4756dd9 CLINVAR:40706 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa31a728-dae2-4662-bf29-58a428d9229b CLINVAR:40651 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6f5d3ef5-3325-41dc-9199-96a83c149564 CLINVAR:40651 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 613b065f-b960-4488-9ea1-50384aec34de CLINVAR:13957 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec889f17-931e-4cfe-ba7e-89ac489cff16 CLINVAR:13957 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba5cd439-aac1-4e22-8332-0242af4cda04 CLINVAR:13958 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 87c02aeb-2a1d-4bc1-bbde-e9e1c6300455 CLINVAR:13958 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e09efe17-08f6-4c4a-a72a-fe3b0660f9b3 CLINVAR:13960 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 14fe14a5-cc51-4b3b-883a-fafe9d4db4ab CLINVAR:13960 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4f42128-77c6-4d59-8098-1bf31a892e93 CLINVAR:21342 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 191d40b8-bab2-48da-9d69-35c1bf8bb0dd CLINVAR:21342 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9512dcb9-b922-4162-9502-3862dd42d917 CLINVAR:40599 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2c0cf985-c9df-40c9-a937-c41443cc5b68 CLINVAR:40599 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c1d7141-db3e-4356-91a4-a00cbf742b61 CLINVAR:13326 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1f75c2fb-3f23-4fbb-849c-f2768b2c3a09 CLINVAR:13326 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 602a98ac-19d6-42bc-bbff-ec61d13b1db6 CLINVAR:177868 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a3d9c9de-609d-45b9-8fa1-8127ecb46a06 CLINVAR:177868 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83804e27-0c93-424c-904f-217418c8873d CLINVAR:8274 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4160b282-6b29-4cf3-a2ca-8f382ca6b83e CLINVAR:8274 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaa6c798-9e79-449a-b256-708f22b24ad0 CLINVAR:8272 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1cd1fd1f-3a97-4b62-8b18-4e9cfc293d3c CLINVAR:8272 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e48160b2-4b86-491a-99c1-33ecab838888 CLINVAR:8275 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2114edbf-74bb-4451-a319-4273d449f67d CLINVAR:8275 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d18ee58-91f6-495d-b6de-553fa1fc6e68 CLINVAR:13350 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 95c41ca2-092e-439e-aeeb-4a7dff72d3ab CLINVAR:13350 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dab7bc7-08d4-45c1-98a4-2e9d6767eb5f CLINVAR:40781 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ccffd8c8-45f1-4489-9d89-a7c63ef9074c CLINVAR:40781 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d89d05a1-2f3a-41b6-b594-07d3698dc870 CLINVAR:40747 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 957e4b83-935d-423f-9d27-59a94203e562 CLINVAR:40747 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 238ca792-2c4b-47f7-9397-c06fe4d1a83b CLINVAR:13351 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5ad17032-993c-4408-b91a-eb2c4611172d CLINVAR:13351 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9967f55-4101-48dd-bec4-97246b71a258 CLINVAR:13979 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e73c3bd0-fbcd-4beb-8165-d8a31cf65765 CLINVAR:13979 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74c99490-e490-432c-823a-e747e338d779 CLINVAR:13965 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2e904e12-684a-4757-aa38-00eab9d692f0 CLINVAR:13965 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b54949ec-25bf-42b0-bf89-819ccf6fa7fc CLINVAR:13974 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1259a20e-42f1-46ad-a531-4e6d6a34501f CLINVAR:13974 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4945dfb1-29ad-4603-a512-ce355b2eced7 CLINVAR:40346 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79d084df-0fa7-42c3-b0fc-07d490af0c50 CLINVAR:40346 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5deecab0-f969-417c-9b67-f5e4c2deb416 CLINVAR:44588 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6c60c312-5d38-49ba-a025-000026bc8db1 CLINVAR:44588 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f88ef00-0bda-4e73-a042-e117fb38bcf1 CLINVAR:13973 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e2d5f41-3edc-46c1-a345-c03873ea0d12 CLINVAR:13973 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6276a702-1d1f-444e-9667-e6ea811fe44a CLINVAR:599655 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9d91727c-5bbc-402f-ae0a-b27181511c88 CLINVAR:599655 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef1dcd5e-dd8f-424e-9c3e-369386690f4a CLINVAR:418841 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 70bd572a-20e6-4449-ad34-ddb51c4b819b CLINVAR:418841 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e30e51b2-41be-4b58-9ecb-d5ff4c2a6308 CLINVAR:140871 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e258af5b-76a0-4915-9f86-6a976610e833 CLINVAR:140871 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a988c5d-b2e3-4f94-9288-f748d223e8c3 CLINVAR:496233 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e567e2cc-167c-43a0-a774-b966bb0dfb01 CLINVAR:496233 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen feb2d1fc-4b52-461b-907c-dff97ec7d919 CLINVAR:599651 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 17369054-a15c-4706-87c6-f295ab0685d9 CLINVAR:599651 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e629a83d-45a5-4107-9cb5-f40ac6b02212 CLINVAR:136055 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0d8fc5aa-cd72-4f89-96cd-0bd9b6acea08 CLINVAR:136055 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7cb0c90-4d27-484f-b630-c78d5f5d5593 CLINVAR:463775 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8bfce48b-feb7-4283-88a4-5c1f4a2f3851 CLINVAR:463775 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b742b67-1e22-4006-9bc8-78fccf21f783 CLINVAR:156496 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a55433cc-8da5-4770-a26a-be801b02dec7 CLINVAR:156496 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b19d885b-6f8a-4123-a51a-ec21a20441a1 CLINVAR:599653 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 125c0b38-4881-4c3d-981e-ea93bbf15024 CLINVAR:599653 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c88aa85-6403-421c-ab4b-edd94643c512 CLINVAR:599656 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a159ab20-91cb-4bb1-aa7e-5f70de3e7780 CLINVAR:599656 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2621aa2-99d8-4ee8-bd03-2a550f4b86f4 CLINVAR:239914 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1e0bae3d-1edc-453c-b2d3-f96ee8f2c65a CLINVAR:239914 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7feb306b-5ca5-4ae7-be1a-bb397ccc6417 CLINVAR:599652 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48f4a7f8-2fe5-4718-a394-08a6cea2d92b CLINVAR:599652 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a5e3d1d-e9dd-409e-8224-34d0c993ac8e CLINVAR:156497 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 89689c5d-1190-406b-9d52-ecb8b26e09a0 CLINVAR:156497 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6944a18f-b974-4796-8297-6a3efb99dc44 CLINVAR:156499 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d62089d4-414f-4d07-a4bf-26511f252e0d CLINVAR:156499 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2ba9a39-e0a3-4cfc-ac5a-6535887e4d10 CLINVAR:449341 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ef843849-78f6-4916-be15-2e7e934c7cf0 CLINVAR:449341 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5284f365-53ce-4cf6-91ba-109c5052510a CLINVAR:599654 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd9c2c98-4755-4889-887a-076b64203fd9 CLINVAR:599654 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49306ab6-97be-4d29-9072-449afebf510f CLINVAR:486824 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b5bed586-6b6f-4881-a455-108ebee918f3 CLINVAR:486824 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bca3086c-9623-4cbf-9f8e-1ad2d0c7e102 CLINVAR:239913 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d4f6610-1191-4454-a230-d59bcc23d59a CLINVAR:239913 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db290f6f-8b0b-41f8-a9f3-0b8c44c01b61 CLINVAR:479504 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2d39fc5c-390d-4699-ae3c-4864f8b0460d CLINVAR:479504 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a92a24b5-8d4b-4ce5-ac1f-def0b5b2bf00 CLINVAR:479488 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d5209442-7ed4-43db-b89b-467ce4c23606 CLINVAR:479488 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06e03b4b-1cea-4711-ac79-bc7df1482638 CLINVAR:234554 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8bd56520-e39f-4f1b-9c04-c04d4dcb6511 CLINVAR:234554 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a45af913-743c-44a8-94b1-76496da53e4e CLINVAR:239906 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8e15e803-6445-4f8f-99ae-c9493ffbe1d2 CLINVAR:239906 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be01a2e3-7b37-424c-afd2-e99fe7289986 CLINVAR:483264 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 172bcde7-a81e-46d1-b00b-c9cf1a7ebbce CLINVAR:483264 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ad89d39-6e2c-40a9-af7c-3d16953446d2 CLINVAR:12241 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 38b301b0-082c-4f45-abf5-2258999c3169 CLINVAR:12241 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc16926d-7fae-4ee7-ad09-89ead7f04d14 CLINVAR:231647 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ae4e4b6-09e8-4adf-bac9-a0a7359d2747 CLINVAR:231647 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baa5fa65-e046-4716-8817-523dfad2b0bb CLINVAR:187464 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aac1daba-7497-428c-a8a3-ce076876f2b2 CLINVAR:187464 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2560e47f-dc12-40cb-8de0-6a675efb9c60 CLINVAR:18453 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f7f1eade-1529-4b49-8b2a-a8dde5399e7a CLINVAR:18453 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ec36af1-3d1e-4510-8b05-e1bd6967053a CLINVAR:406663 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e4200f61-8913-4991-a29f-524fd5a7c07d CLINVAR:406663 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e49decef-7bd8-4198-92fe-4d5a2784bd0a CLINVAR:177763 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 97442c87-a06e-4606-9032-21819b9931b2 CLINVAR:177763 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f229d515-367f-43af-b173-3f16e5626eff CLINVAR:7826 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e9aa6939-b65c-4e73-995b-c9b8da402923 CLINVAR:7826 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a57c11f-754a-4f8e-afa9-c30c6d8af495 CLINVAR:185713 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e7255b42-7d1e-42d4-89c2-f4df50aeaa1d CLINVAR:185713 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33cf02e8-72cf-40b3-9166-43a0a49e7791 CLINVAR:7831 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3893b22d-30bc-435c-a95c-a2cece12e543 CLINVAR:7831 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99253e2a-9e08-4ca2-af7d-6c24e52ae181 CLINVAR:7828 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8862ef99-ac9d-416e-ab63-2c3cec4ab46b CLINVAR:7828 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a945ecc6-d7c6-480e-809c-0eafb0b3380f CLINVAR:7823 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dae07358-011e-4420-a8ae-9ee004246025 CLINVAR:7823 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd4a53c3-5edb-4dfd-a921-ae4b382144d2 CLINVAR:39668 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a3fb37d8-7db0-4661-a158-1c2a06b7c426 CLINVAR:39668 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 945cf3e7-4890-406d-808d-1f316bbab1bd CLINVAR:140807 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bfdc83cd-52eb-40d2-95bc-0660ea44fdfa CLINVAR:140807 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1b7bfb3-ac04-40aa-80f4-b4012abb5604 CLINVAR:92820 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3a0e3f3e-6e13-4265-a056-2fba77baf308 CLINVAR:92820 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b02a4d8e-3d6a-4446-ac9f-80c70a6c104f CLINVAR:39669 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a51eddb4-37eb-43d1-8542-e7fe0d82e576 CLINVAR:39669 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7accc20-a2f3-42e3-865d-b0078a88a023 CLINVAR:428271 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fa093bc9-a515-43aa-9af3-33bc33d0f26e CLINVAR:428271 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 929a64ee-cd81-4472-8569-0d9dd42a2fea CLINVAR:428274 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 80edf21f-593a-449c-8a33-ad2170375560 CLINVAR:428274 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce1da9f7-fdeb-42d7-a013-a0debc7a372b CLINVAR:7841 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bb06c044-6773-474c-b54b-322ed6f159e1 CLINVAR:7841 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8da87824-ee0f-45c7-b712-f6ef84183541 CLINVAR:7849 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 004e4fb9-eed1-467c-82fa-01c801286f67 CLINVAR:7849 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b332d7c7-14bd-4d31-89ad-31b02a85f065 CLINVAR:7839 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0f5b1cfe-22d6-458b-b499-ee8f7f11d22c CLINVAR:7839 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a56c8df2-9a7f-4a8d-9b7a-39ae72abc1d9 CLINVAR:7850 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9481f083-064d-432a-a1e3-f46a0e90c6e0 CLINVAR:7850 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26e64fee-7bc0-47bd-b0a3-b09d5131d309 CLINVAR:7848 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4687e9e7-633f-4fb5-8d39-cfe21a560735 CLINVAR:7848 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30e4bb8d-be23-4fec-a6d3-ea01d73a8b4f CLINVAR:552907 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a87da840-ea9a-4782-85fd-1d220df1b117 CLINVAR:552907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baf366d5-c854-4d45-b7ca-92aafdd6e620 CLINVAR:619167 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen df737019-77dc-434f-9475-7df0bc884f94 CLINVAR:619167 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3369736a-8043-479e-84d9-0168433c808e CLINVAR:102567 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f22901e3-f7ac-4016-a1da-cd0f8e110503 CLINVAR:102567 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c3554d6-b9cd-43e8-b7b7-e8036982edb3 CLINVAR:551555 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 88495314-3c61-4265-b138-0f49d26bafef CLINVAR:551555 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b1a78db-5de3-4fb5-ab2f-efbd9ba87f8e CLINVAR:102526 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6aa490cc-3b8c-46e3-8ca9-10b4680d0178 CLINVAR:102526 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7af12421-ac0d-48e0-ace7-dc7d09a6b72a CLINVAR:619161 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 376a9288-a1ab-421e-b673-7843c1ca73e5 CLINVAR:619161 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c2ed26f-8edc-4ca0-a53a-38c32d5ecaa3 CLINVAR:102525 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7dc31810-de31-4eaa-82f2-e98b791a83ca CLINVAR:102525 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb7bd892-e3b6-4f7c-a9d5-79ac7a404795 CLINVAR:619153 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c3092714-de13-4082-9903-b7b648bda064 CLINVAR:619153 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e6618bf-bd97-4eee-a1bd-3efffc27051a CLINVAR:102726 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9f489098-561f-4fd0-8546-4f45152dcfae CLINVAR:102726 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3349c4ef-2847-4a6d-8b98-ad56db53eb19 CLINVAR:627 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b6e3e19e-11b6-4e54-b849-27528fa4e7a4 CLINVAR:627 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e877f6f1-3541-443e-9b17-bcc34f970db7 CLINVAR:208180 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5b631b2e-c16e-4ba5-861a-2b504ec278a8 CLINVAR:208180 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70abb289-e905-4293-ae2c-d36ecc8c319f CLINVAR:225133 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aad4ceec-db5f-495f-939b-7b34f46f028c CLINVAR:225133 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94571102-8426-4056-b90b-f27462008626 CLINVAR:633 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fa91c958-ffd3-4836-813c-52dc89b75228 CLINVAR:633 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30c1daf7-bd94-40b1-a2b7-5b4abdb39e4d CLINVAR:102905 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8abfa7a8-2824-437d-9e6d-6b222b585065 CLINVAR:102905 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49f78cf2-0ef6-4aca-ab8e-4301647fe560 CLINVAR:619151 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8ed182e-f637-4a1f-beab-be1554113c43 CLINVAR:619151 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7862da0f-8b3d-441b-975b-d03b7033c199 CLINVAR:619162 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d822afb7-3e70-4d21-bffa-036b0731fa92 CLINVAR:619162 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee6e0a4b-b9dc-4c6c-abb9-42a1a7a4f041 CLINVAR:619155 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b42764c-5e95-4294-88e1-4a271a019089 CLINVAR:619155 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6741d6f4-7eca-40d6-95c9-4c7f6da4f875 CLINVAR:619157 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a396d3b6-f0b3-443a-85a9-1c536858fe9c CLINVAR:619157 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1af86f97-5fca-47a6-96d2-d669dabe79e6 CLINVAR:102882 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c0287c3c-c2bb-48b3-8949-4c45ac8674fe CLINVAR:102882 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e94ca4ca-8ff5-4fdf-a744-5d26b5052f8b CLINVAR:102881 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1768684d-cb30-45c7-a8d6-de136cf633d4 CLINVAR:102881 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 859617d1-7508-4ad7-a7eb-42f9df083932 CLINVAR:619164 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3fe1c551-ed21-429b-800e-44f417d40b8c CLINVAR:619164 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e32fe7a-46ba-4a8f-9df8-712012a3e7ad CLINVAR:102880 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 528e689c-87b5-4b09-a1f4-6585a24e3f2a CLINVAR:102880 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 556af4fc-6954-48c3-b9be-faf9e9b5ac07 CLINVAR:102877 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d903ed75-4c46-42fc-833d-8587b4e0e89c CLINVAR:102877 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4bcc332-c491-4f6e-be25-1561ef1867ad CLINVAR:619158 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen efc9f479-2fd8-4216-8087-8c209816401c CLINVAR:619158 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d09ef87b-98af-4113-81a7-926dc59a64a9 CLINVAR:619149 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f34dcb12-aeff-4100-98f8-14462dc9bdad CLINVAR:619149 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2b899cc-e81f-4f8b-9f11-3a98038bdfba CLINVAR:619154 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 728aa412-ed3a-4c89-aaaa-61b4f76ec351 CLINVAR:619154 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 208da6fb-f69f-4a18-9161-793063652cd3 CLINVAR:120279 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 45e180c3-2569-43ec-b938-cb56f6a73c71 CLINVAR:120279 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee9e4aa9-9b8a-45c6-be93-61b5d6ea5313 CLINVAR:102694 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ace7db80-395b-4cdb-b42f-4771cf62e15a CLINVAR:102694 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0f00856-03e1-42a3-9fae-0cb263639960 CLINVAR:102667 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen af5b5886-01d3-49ac-bba9-da914c83d1aa CLINVAR:102667 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8ca035a-1a2c-4e76-b5cf-1396ba02a081 CLINVAR:102658 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68a9b625-7fac-45e5-9d1b-6e5f90aa1dec CLINVAR:102658 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4164be59-380e-4c92-8aff-24032c6f1a3a CLINVAR:102620 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c586293e-99d0-4581-a29d-424b6608c309 CLINVAR:102620 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 739703da-759a-440a-9034-5e141eb7143a CLINVAR:102619 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3528d135-4edd-4d85-a199-1caa5c171ba6 CLINVAR:102619 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 999efb06-8f29-43e6-80a4-2301a2ba57b4 CLINVAR:102616 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c9d8471d-c31f-46ed-8d89-e158b2c522d0 CLINVAR:102616 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eb78395-8c16-4eb0-97bd-32f07a27b438 CLINVAR:120266 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c790396b-ce44-4f65-93c2-db59ab5e7c76 CLINVAR:120266 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1b9ecd7-b569-4bd0-ab8f-25af91965797 CLINVAR:619156 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 787548f4-d373-402d-bdab-f9465a29851f CLINVAR:619156 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9106d1fa-2aeb-4c41-9998-88b742195a28 CLINVAR:619148 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f13ee79-19ce-49a6-a0f1-97200d56d720 CLINVAR:619148 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac0da869-d7f9-4ac8-84c1-4c524db0a53e CLINVAR:619152 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ebe36be7-ff3c-4f66-9ce5-e95b4a95843b CLINVAR:619152 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17891140-f097-48fe-9e85-413a968082d3 CLINVAR:102850 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5fc886d3-7eda-4809-abb3-168eebedd7c5 CLINVAR:102850 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8a8ae1a-bc3f-46c1-8a7a-f675e949654b CLINVAR:102849 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b198551-bb03-4296-bfa6-4eb8cb86ba28 CLINVAR:102849 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afe146a1-554c-4e7a-9ec0-4a65a5f6344d CLINVAR:102623 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 20fb5b78-7d2f-4e7d-ae9b-04efeae8ecc2 CLINVAR:102623 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fb3a04c-79e6-4502-bb36-fbaa65520992 CLINVAR:102817 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen df9332f6-7aeb-469f-96c4-c32fbc400db2 CLINVAR:102817 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd2d4d6f-9ef3-4103-8067-1085aaafe5d8 CLINVAR:102816 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e58fd9cf-a1f0-42c4-a76e-89f021ad7189 CLINVAR:102816 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4839c32-7dca-4f29-927a-214c0313ec80 CLINVAR:102815 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen da717df3-db85-4991-b744-19f8a2fcd561 CLINVAR:102815 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efe01de1-dbe5-4f56-bd66-51b88ddfbaba CLINVAR:619163 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9189f9c7-02e8-403c-af4e-17edd34907b4 CLINVAR:619163 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a1e50b9-fa4b-468b-8f69-34a79f595f33 CLINVAR:619160 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 94cd2dd2-2a18-457f-bb1b-786c5fb90b5f CLINVAR:619160 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6339c0d5-6c5f-4732-ab96-b26c6565d892 CLINVAR:619166 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d4a93f36-880c-40a0-939e-31ef342fdf83 CLINVAR:619166 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2569d082-99a5-4da4-b09f-eeb464637ffb CLINVAR:102772 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b32eb2c-fd0d-431e-bfb5-24d4e33c3b96 CLINVAR:102772 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca66c277-941b-45b2-946a-60a79efac255 CLINVAR:619165 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c40bf43e-6d58-4ed3-80fb-49a05d44c7c9 CLINVAR:619165 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4ff36f8-8f14-426b-9017-ec74142b4bc2 CLINVAR:556296 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 37670c86-eada-4b8b-8017-dc8430341211 CLINVAR:556296 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5451c121-d6f4-44de-be86-ea3d560f47ea CLINVAR:102841 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 187115bc-1002-43fa-b5ba-df56dced4c78 CLINVAR:102841 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 316b1293-c822-4d3b-95c1-9b2d8f6bbe44 CLINVAR:102840 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 51fdaf64-8e16-4769-8cff-58c4a54418b7 CLINVAR:102840 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9655c6e1-3ed7-49fa-ab2d-651d15c30efc CLINVAR:102839 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 59ffff5c-bb16-4240-af3d-95bad5789e30 CLINVAR:102839 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d802009b-8946-4c93-89d8-0ba670c63abc CLINVAR:370701 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen da109828-a7bb-464b-a755-cd52d363ec88 CLINVAR:370701 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bcf6634-a90f-4d0a-8e44-a14a6a2fb955 CLINVAR:120258 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 77550cff-f01f-45f9-a3dd-a86eb1111471 CLINVAR:120258 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8e7a315-a8e3-4545-9260-4ec05df4c3a3 CLINVAR:102767 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4ad93380-1123-4f63-bc2b-b34e25bf6104 CLINVAR:102767 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27561518-698b-4dd5-ac1c-7287b64bb925 CLINVAR:102604 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79b20eec-4ca4-43dc-9802-be1ffeae0d65 CLINVAR:102604 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 303f8b7b-b508-4a94-93a3-0ae0b101984d CLINVAR:102588 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 23ff7e17-4c6a-4114-857b-b0388c99da4a CLINVAR:102588 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a70f9c58-3242-419f-906d-684db8ef7ef4 CLINVAR:102857 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f77060de-b6e6-4d07-a60b-039e907b7951 CLINVAR:102857 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffe261c1-bd2c-48d1-873e-9da5909a35fe CLINVAR:102856 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 02592038-6500-4a04-8e67-e75f46104d44 CLINVAR:102856 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9273fd7-f2be-4751-a503-336d638a2d35 CLINVAR:102854 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 40b0a5bb-0c25-4dca-adff-18f01d608159 CLINVAR:102854 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1477cc07-833e-4f2b-be6c-9458dc79c549 CLINVAR:102853 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1dee9d5f-2119-40aa-bb25-04c9aaf20760 CLINVAR:102853 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f925a340-055b-4ae0-a45a-c935b4659a5e CLINVAR:120286 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 27cf386e-cb69-4224-8e50-2059ec485059 CLINVAR:120286 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09f5236d-0f58-4090-8fe4-f0000ae61903 CLINVAR:619150 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 53181e18-d5f2-4afa-97a0-2abbf63d7e6f CLINVAR:619150 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73133642-72e0-46d6-8734-421a39d9d2d9 CLINVAR:102833 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f12d9a09-edb1-43df-913f-adeb02cd2fbc CLINVAR:102833 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52e48b1e-fc49-4b30-aef3-a8ebe9780ace CLINVAR:120285 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1fcffbcf-ff7b-426f-a503-e25d935a57e7 CLINVAR:120285 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76ac9b1c-8aa9-4496-b7dd-bf099b12639e CLINVAR:619159 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ae714c3a-a2fe-49c9-9c14-f28fc2b85af4 CLINVAR:619159 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f396e541-22f6-4ad1-a642-c35934290247 CLINVAR:587 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a4fc1dc8-5bf2-4e18-9450-4ee00f2de535 CLINVAR:587 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3f4ddc4-c322-4b20-a7a1-de7c7a2def92 CLINVAR:102842 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 972bc5dc-1729-4c5d-90c2-0f9668c54fa2 CLINVAR:102842 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7340eb4-eee6-4ddc-97ca-da1d38f34038 CLINVAR:102823 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b0e52489-d934-4f63-98cb-01664a8b381e CLINVAR:102823 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53af5982-11ee-43dd-8404-8b93a9a34d09 CLINVAR:589 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 28a218a0-ea15-4318-b49c-c61798712577 CLINVAR:589 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 918f9cfc-7037-4375-ab33-e4b9aa6d379a CLINVAR:92749 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ad6fb42c-6847-4af8-8c84-fa3ffc2c6811 CLINVAR:92749 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e568694-186b-4ff8-9d79-28573c32fe98 CLINVAR:46014 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 89a51685-91ee-4ed8-ad14-85ae35169cab CLINVAR:46014 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e47ab2b1-5678-4214-ae05-34b933d35055 CLINVAR:6611 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2da97294-9ee9-4626-9865-92a4d5de4e11 CLINVAR:6611 biolink:is_sequence_variant_of HGNC:2180 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5174106-291e-4d6e-8cbf-8e24e0b3d170 CLINVAR:447450 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fad25c9e-51cb-4383-a70f-48e6b7ebbf1b CLINVAR:447450 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 264649c7-95d7-41b4-a6fb-e9b780016009 CLINVAR:555720 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48c65a68-f4f6-4e6f-bee3-89ca52179181 CLINVAR:555720 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d19c358-3454-481f-8513-eca44522c408 CLINVAR:17002 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f3226ed3-0f59-4daf-a5f6-61b857c856be CLINVAR:17002 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d56f6bc8-02b8-462a-a28e-b74e76196896 CLINVAR:4840 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 189cd8f4-c93d-43e0-980d-e32bcd14cc3c CLINVAR:4840 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94babbdf-1639-478c-aca0-8c83df0b1804 CLINVAR:17010 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fb6319b4-4bd2-4c74-82b9-8de8af80dec6 CLINVAR:17010 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d63aaf9-27cc-40ee-aeae-023563c32183 CLINVAR:375406 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 187e3cd7-3d38-4393-b49d-c0cba28a7007 CLINVAR:375406 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0f3b19f-cbd7-42fb-a9b6-bc8f42554154 CLINVAR:43555 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e58654d-089b-464f-a80c-46171a9e567a CLINVAR:43555 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34caa498-f7f1-4cda-bea1-b2248693381c CLINVAR:48535 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c44ffef9-c065-4707-b55d-eb9213a8e313 CLINVAR:48535 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8056e15-7832-4a46-8c02-50ce85cb7502 CLINVAR:6241 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cb46ec7c-d48a-4e8c-91db-bb8dac045a46 CLINVAR:6241 biolink:is_sequence_variant_of HGNC:6298 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 473ca24d-f24f-484b-99e6-81e1951f899b CLINVAR:43498 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0d465ab0-9e64-427d-aaee-78549f163bb3 CLINVAR:43498 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03eae5f0-7396-4fb4-87d7-c36d9f361e1f CLINVAR:4835 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec170e75-5ca5-4fd0-9953-7d0b07dbdabe CLINVAR:4835 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cc4c15c-b58a-482c-bb61-07acbd0e0a82 CLINVAR:166504 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c37ebb4d-f011-4fe9-a980-ab5c77fb6798 CLINVAR:166504 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23549920-f8d9-4c80-af5c-a65535a08d8c CLINVAR:2353 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3885c9b2-1fbf-4077-bc92-350ce3ba6598 CLINVAR:2353 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40eefc4d-f935-4f90-ac29-1f3eca3a1975 CLINVAR:48604 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e7aba3b-8ae1-4dc0-9b53-a43f9235708a CLINVAR:48604 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7003ad5e-0b19-49d4-94f0-72b17bfb0aad CLINVAR:43565 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 99e1951d-ca38-44ee-a49f-e25c308e8f43 CLINVAR:43565 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 635bf50f-b618-4ccb-a804-b0d7d25b8496 CLINVAR:48347 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1789e487-3376-4f2d-8e3e-4b4e40b5eca4 CLINVAR:48347 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1950bc14-4c3c-4e6a-9013-8b2a528197a1 CLINVAR:197510 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8bdfdc14-c46a-4f03-92b3-a67524c99664 CLINVAR:197510 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 362376be-29f1-44ee-aaf5-d64977f02943 CLINVAR:189148 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5a1677e8-5273-40d7-867b-de6232ca11ea CLINVAR:189148 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bed6eaa1-2250-4ebf-a75d-a0b24a5be142 CLINVAR:449088 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cca91e01-a322-4cef-b829-d995585cbd4a CLINVAR:449088 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efc62052-4f4c-44ca-91a1-b3bb38ee6daa CLINVAR:102661 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 37bba7b3-af83-4cb9-a6db-e05a64351118 CLINVAR:102661 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02118a6f-ddfa-448d-84fc-7b83cd3567c9 CLINVAR:102858 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 36cca0af-d5a7-4e82-b319-9e627f152ba0 CLINVAR:102858 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3426d3c9-b5ec-417b-b61e-f9c77158f80d CA16020876 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5157bb1b-ede6-484e-9ecc-2eb914a86da3 CA16020876 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c016b5c-bff7-46ee-b624-daab002a1eda CLINVAR:102889 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a0844963-d377-4bf2-b4e3-07c8949d2025 CLINVAR:102889 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5a34097-74a3-4c80-895e-91a6b5318c55 CLINVAR:102584 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ccae7e2a-f0f4-40d4-afc9-f1134b49078b CLINVAR:102584 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4957ba4-3291-4445-80f4-67c2c5b7e541 CLINVAR:120274 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2b9d1a64-be1f-464e-9497-e36bbb9a0dff CLINVAR:120274 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03e85219-cefd-4336-a38f-9abd0887f553 CLINVAR:102689 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c1461bd8-f131-4f2f-bf6e-76b40abcd079 CLINVAR:102689 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cc8e9ba-790d-435f-930f-41cd61be4c75 CA16020719 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 976e24f8-d8a7-4b08-9892-d47de245bcdf CA16020719 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07f5ea34-5ba2-42a5-b8f9-bf7f34575fd2 CLINVAR:557124 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 102ffa68-e084-4b63-8d14-a27c41c588ff CLINVAR:557124 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2405a76-9fba-441f-9a17-c0a77b8cc030 CLINVAR:102744 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 960b15f0-dffc-4bc2-93f4-a6d4e2350a64 CLINVAR:102744 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9bde1dd-757a-4c0b-9c84-84327c55e295 CLINVAR:102581 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ce0ab10a-00ff-45a6-b66d-00bdebebaadb CLINVAR:102581 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 385c5d9d-70bc-4ccb-b95d-a9b559842172 CLINVAR:102660 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 30f498e8-cb0b-4d07-a402-6dba7f047afa CLINVAR:102660 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4919d097-9ddd-498e-9ead-c635b7c7fdd4 CLINVAR:102686 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 336d6809-d157-4ed2-9693-a52a7bcc8987 CLINVAR:102686 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 703f5fa2-c2e1-47ad-b333-e430d187497b CLINVAR:102700 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 44a7e06b-511d-48b1-b522-5bdbe7131612 CLINVAR:102700 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a788ce4-2d76-4ee4-93fd-876759fd0d8b CLINVAR:102701 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 275afa4f-426e-48ed-8a5b-c82a8640d575 CLINVAR:102701 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4a1509d-bc5c-41a5-adf0-86e5d96ba78d CA16020800 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1f38162f-af07-46bb-8029-1484e66918e3 CA16020800 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a3ef044-aa88-4056-9a92-f6a46637964f CLINVAR:102702 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 70a654a8-6f7e-4a97-982d-a79be9eb849e CLINVAR:102702 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11282999-91b8-416f-bc86-35d0ded68f57 CLINVAR:102721 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ea8b4cc3-3832-41eb-b452-91f25478bb5f CLINVAR:102721 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3addc99f-194d-485d-9057-fc9e612f1600 CLINVAR:555366 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 32e55dc7-697c-44c9-b7ee-5f385d72ca86 CLINVAR:555366 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 998c95da-a09a-44cb-9afe-09a5ee670439 CLINVAR:608 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen da503b7d-af37-411d-b9d8-7bc8e2f0fba5 CLINVAR:608 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7450c4ee-c374-40d4-9e40-536c9c17d7ca CA16020761 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d8f3c44c-8fe7-4e89-a473-e67391b19e04 CA16020761 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec6c0ed0-f44b-423f-b002-fedac1bdb92d CLINVAR:102873 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c83a8f05-e7eb-476c-9d16-06b7ee49e2e0 CLINVAR:102873 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95ed83be-fcd3-44c6-b7b6-7d3f005795a0 CLINVAR:102869 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bb05c5f7-8e8b-4c93-bde8-3524ad5787ff CLINVAR:102869 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c4ee6a3-7e06-4eac-8a39-49516f8ecc24 CLINVAR:102670 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f2342be9-ce86-41c7-9abf-81a2eac87c59 CLINVAR:102670 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c8edca9-f658-4272-a625-57bb6876be6b CLINVAR:102735 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9c89c343-5ff1-47eb-b23d-19dd6322f651 CLINVAR:102735 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e63025df-5c5c-4853-ace0-51aaa956f250 CLINVAR:120280 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 18c4886f-0f8e-456b-b726-ad990ce2491b CLINVAR:120280 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f1fbf63-47dc-4201-83c1-724ed893442a CLINVAR:133314 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen db531ea8-e6b7-435b-822d-d3bc3c653b93 CLINVAR:133314 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d63cae6-ac17-4816-b2fa-8beb46346e66 CLINVAR:597 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0b92d2a8-c379-4b69-98eb-076c932a28cd CLINVAR:597 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9766f3c-60f4-429c-aba4-62c42321b68d CLINVAR:120265 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 92cfae0e-7de8-4ebe-a854-25af399e54ae CLINVAR:120265 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e695f709-f99f-4850-8a32-562cedc96cd7 CLINVAR:102605 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 245cba49-54bc-4a63-86eb-f4a53869461f CLINVAR:102605 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbb9eaf9-843b-4d87-83a5-0fcc326cdef2 CLINVAR:120270 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0de7e7ea-3c10-4839-a30a-7db3de394f74 CLINVAR:120270 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2a026be-820a-4267-8d55-cce94196a869 CLINVAR:120277 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 880905f8-f996-49c3-bbb2-6be7b55ec840 CLINVAR:120277 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58b4c12f-0456-4f69-bc31-a18845d915a3 CA16020871 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cda2c2a9-5666-428a-89de-630868ec6606 CA16020871 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8586614b-3a77-4ce4-9c38-612aa59f526a CLINVAR:208182 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2dfd97ed-efed-403c-8e2d-c038f4dd4889 CLINVAR:208182 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9663457-d102-4b53-8c46-8352119bb160 CLINVAR:40447 biolink:genetically_associated_with MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af29e47f-d703-4584-b917-f646b8879bab CLINVAR:40447 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fa22101-8bfd-46e9-b5c4-21c6c4d21c52 CLINVAR:40347 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 31070efb-037d-4b98-a13d-863fcbdaa961 CLINVAR:40347 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66c78db7-1eec-4018-8e03-800cdf2f8ef1 CLINVAR:40348 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dd88a854-20d4-470f-b736-0e76667c7cc1 CLINVAR:40348 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4684350-9612-4570-af3c-6849a3196517 CA281951 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 43c8facf-4753-4286-afbe-70f5d1daf5d4 CA281951 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6dbe254-b151-4235-9b84-722b457a7ae9 CLINVAR:180784 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c376344-3c5b-4b96-bdc0-2a68b2c30b27 CLINVAR:180784 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc31ca4a-8e40-4115-b873-ba132f15613b CLINVAR:55793 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b9eb601-0142-4e9a-8f75-7d5d32f93270 CLINVAR:55793 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93a716b7-0841-4c80-a28b-70806cc7290e CLINVAR:44830 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1cdc3755-76d9-4a2f-a5cc-52470d26233f CLINVAR:44830 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52e0c4f7-bd42-4136-b806-859e88e91870 CLINVAR:477669 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b8a99509-2441-43c2-9c45-6f039cfc3140 CLINVAR:477669 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e284ebb-1703-47ab-ba55-bff8ca2c04d4 CLINVAR:40485 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ab70db87-4598-421f-bad4-4a697a059643 CLINVAR:40485 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 787e9eae-524d-4be7-a930-a6ee5dedfb5f CLINVAR:543999 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e4efb0ac-9de3-48ce-943e-6e55ed22f399 CLINVAR:543999 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57def32d-0b0b-4ffc-b5bf-5086c80ecafe CLINVAR:40818 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ce874c9c-93dc-4541-ba38-bd4bb91374ba CLINVAR:40818 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7863adf8-7cc9-4a9d-bbbb-aa96cf7a13fd CLINVAR:40562 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bd3c9e31-0a42-448b-bfa6-f439f986b4a8 CLINVAR:40562 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d60238e2-e879-479d-b538-69e7ab291eb9 CLINVAR:40513 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2717e48f-865a-451d-aabf-92651c25952f CLINVAR:40513 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76fda65a-2985-4819-83c3-5bf530e04a31 CLINVAR:17000 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 753ac76b-dc53-4ad0-ba51-72d5438c3ad0 CLINVAR:17000 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e92528d4-b613-4a2a-8b14-adb7e69d2e64 CLINVAR:203873 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 29bd91a0-fc15-4de4-8d16-91b14c4b0567 CLINVAR:203873 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0027781-16fb-4ede-ae0f-dc6c6b1a6f44 CLINVAR:585206 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 32a14d8e-4442-44b4-9cbe-bce35ee2d3ba CLINVAR:585206 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe2178e1-f347-42ae-99c8-a6a6975dcc15 CLINVAR:102626 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a311a08b-c1cb-4d12-87b0-19e189111317 CLINVAR:102626 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba2ee65e-f0ec-45bb-9f19-36d11b80e943 CLINVAR:102647 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 12ad5e20-726b-48b1-828d-5c87c2c489b3 CLINVAR:102647 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b106ffe-9287-434a-bedb-74ba9a4997b3 CA16020886 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 032eb6fc-3553-47aa-bb28-c2c719f1fe05 CA16020886 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc7c11c9-4f46-4be2-824d-5923ffb35f28 CLINVAR:92750 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aed65758-287c-476f-8177-295c10c43440 CLINVAR:92750 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cb0e591-35dd-4aa8-a292-5a1d4f2c9211 CLINVAR:102885 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1294f9c6-c5e3-460f-bd65-558f1ee48ee6 CLINVAR:102885 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24557bbb-ad58-47c7-872f-74e0dae2fbd4 CLINVAR:120291 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen da8a59ff-d162-4b58-941c-e5b019f4f341 CLINVAR:120291 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b640a96e-fb28-4756-b287-d331222a6624 CA16020885 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0c5da40-a7df-465a-bf56-ea2b19a53a3b CA16020885 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a216f8c5-b5c4-47d1-849e-16d6e9188399 CLINVAR:120297 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 09182882-9e5c-44e1-aaa4-fa52e615206b CLINVAR:120297 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52628077-d344-4882-8632-9c3975b0ef0c CLINVAR:120288 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bc925c81-6c57-4e4f-ad2e-311489481abc CLINVAR:120288 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9b99ec4-0127-41ba-8b1b-72039d8eac69 CLINVAR:637 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dfb778c1-d1f5-45d3-8f27-ebdf5096e723 CLINVAR:637 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c093867-f890-47d1-8020-0b1ee5daed70 CLINVAR:102884 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f764fc43-5ca0-44d6-a311-e8ad59b8d985 CLINVAR:102884 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f4e3d80-f39b-4c39-97f3-1e89a1ea0c92 CA16020846 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d452984b-1cc1-4ca1-851b-2d0272ee4b76 CA16020846 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d58a3bc6-bf78-459b-b14e-079e3bccbbaf CLINVAR:102886 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen facce6cc-b893-4989-9837-0ca8f211a9a6 CLINVAR:102886 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 387402eb-13d1-41a1-abf8-394b9caa424c CA16020889 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac727627-b2c2-4b5e-a77a-1613e533b17f CA16020889 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 163c5291-4688-4438-8d42-cd709bf108ef CA346365197 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 068fd01f-d763-4d64-bfdb-99b1981ad11f CA346365197 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9896530c-a631-47ae-a7c5-51a61c87c781 CA891862608 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6bac4841-4e9c-4619-9dfc-9401886ad819 CA891862608 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f409db7d-16a8-426a-bf5e-f6ab71fe8337 CLINVAR:45373 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cedf57d7-4880-42be-a9c2-3f3adceef39d CLINVAR:45373 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38624217-c6a8-452b-b33b-36fe3230e5d0 CLINVAR:8273 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5a899780-bfcc-4b50-bb9b-2171f5499b59 CLINVAR:8273 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f6c13d3-2d7e-4404-b0b9-79cb84707c7c CLINVAR:13331 biolink:causes MONDO:0007893 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d879d2e4-7e8f-4895-bd52-ca7985a69bee CLINVAR:13331 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50122d6e-1246-44cb-80b3-544848389b3f CLINVAR:13333 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b1efa077-7d10-4554-b542-6690643e0f31 CLINVAR:13333 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42ee3f3f-99ec-4a42-aa69-1538c3ebeaa5 CLINVAR:158604 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9904a935-7fc8-44bb-b601-c65cd44fbf00 CLINVAR:158604 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36675e21-bdee-4658-b967-8972db7be12c CLINVAR:162956 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 553ffdd8-dc2f-4bcf-8bd5-411b2d9c8653 CLINVAR:162956 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b87a5160-1f4a-4792-ab10-3d970ccc1240 CLINVAR:177732 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c70ca998-5523-494b-bd76-1106d1742692 CLINVAR:177732 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4f0a71b-fcd7-4718-b55c-07d259f5775a CLINVAR:44760 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a97b2048-745c-4eb5-9409-72b25a9def4a CLINVAR:44760 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc714d6d-d2e7-46ab-bdbb-d6053b38953f CLINVAR:4838 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 375a5dc6-8587-461b-936d-eaa6704a3160 CLINVAR:4838 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbbc6923-ea3e-4d2e-af6f-367d9c615260 CLINVAR:17023 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1c767b50-ae56-4963-ad83-38c1cbcf39af CLINVAR:17023 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57813310-8a37-467f-ae89-2b5975711893 CLINVAR:120260 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen abc8c62d-d189-4ec9-b73f-0d6edcd04090 CLINVAR:120260 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5fedaa2-a8ec-4612-a82a-5198331e6e4a CLINVAR:7817 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5aef5bb8-9a03-48b1-a91b-cd2c445e8308 CLINVAR:7817 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 202355d6-73ce-4e3c-9dbc-10e2d6478c18 CLINVAR:223142 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 55deb165-8aff-4329-98f5-16e1e60baad7 CLINVAR:223142 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f08618f-cf66-456e-85ba-6dd635a5f887 CLINVAR:375958 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba8a9c77-28ac-4aea-bd12-609f73a52e55 CLINVAR:375958 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 751c7bc5-91f4-4d7c-8099-f93b605651d7 CLINVAR:375959 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7b32ca1b-2667-4cf7-afe2-3d86aca31eea CLINVAR:375959 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef1b7ecf-b8b9-4a77-b196-3ffb91883ab1 CLINVAR:189403 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b395d2d9-306e-4e78-87f4-0fb652f8142d CLINVAR:189403 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 143fe800-1e8e-44f8-8147-ee63c7c682e4 CLINVAR:187827 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 120f946e-a907-4779-832d-e881f38c2831 CLINVAR:187827 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0cd94f4-27fd-4913-a826-19647231978c CLINVAR:142212 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c452a54b-6a19-4ed4-ba75-27d3ca558d51 CLINVAR:142212 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 228edc89-61dd-4d96-b527-281b69d77496 CLINVAR:237639 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1bf412a0-3296-4277-b7c5-0dc0d45d42ea CLINVAR:237639 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bce32572-1e7a-4067-8e3a-07bae5e7c773 CLINVAR:184466 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff5f35d7-c658-4a86-8ce5-c74dea194538 CLINVAR:184466 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 617fd0b0-a9e9-4326-9442-aed80ff91894 CLINVAR:427623 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4738b597-1113-4990-83d7-1071a6959b19 CLINVAR:427623 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21b807e5-10a3-4fcc-9e62-6ca4585a5921 CLINVAR:372481 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f3fd3be9-6957-4e9e-9ca8-886ea804cf5f CLINVAR:372481 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b487a86-65b0-40bc-b269-058ae21dd644 CLINVAR:372482 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2a08878d-4601-4e3d-88a5-64a0c5dbcc59 CLINVAR:372482 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a5bec75-3b6d-4604-83e4-872b69ab26da CLINVAR:184844 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7f8fc215-9af7-4fb3-9b96-3bdbd5dab221 CLINVAR:184844 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4535d7c-3a51-4592-8927-3668f1037dc3 CLINVAR:376510 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 880cce8b-9603-47cd-ae9a-00ed35492f0c CLINVAR:376510 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72a2def5-313a-478e-95f9-02c936bc60ba CLINVAR:139567 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5ce50639-052b-41eb-92b7-c98ccf744418 CLINVAR:139567 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ce3518d-0047-460d-be33-6af4422e58cb CLINVAR:237643 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3d596c7f-ccf0-4218-b972-1422df84e04b CLINVAR:237643 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8d77051-cf57-4644-9bdc-7d9afb76ca40 CLINVAR:7843 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2581998c-0946-4950-a3ef-f581abe3be44 CLINVAR:7843 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92175aa0-9e30-43fe-9c51-e7c5775b5121 CLINVAR:428216 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2554b4e6-73c0-49af-9b65-6745da1168ee CLINVAR:428216 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa19eb53-140a-4490-8efc-b447982d9476 CLINVAR:7845 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8e8d0d16-2be3-4f2a-91eb-e278974209f3 CLINVAR:7845 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd0b082b-ac04-40f8-9925-6d9c7747ba82 CLINVAR:428206 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7822dcb5-dddb-469c-b9ad-fe89e5bb5d20 CLINVAR:428206 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 398c8299-dacd-4029-aa9b-46230559caf9 CLINVAR:7825 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 92fb459a-9889-4723-80af-9e8b3cb87dc7 CLINVAR:7825 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66831ff8-353c-4db0-8944-6ddd4d35dd79 CLINVAR:7821 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8512ffe1-b91f-4b09-95dd-b7b5df3c14b5 CLINVAR:7821 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efaac0b4-72ef-4f7a-bd99-3bbcc56a3724 CLINVAR:7822 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 440887d6-305a-4705-8317-b683894425be CLINVAR:7822 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da953a1f-a00f-4fef-a74d-55a1da4f5f0a CLINVAR:7840 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 37e7cb71-b46d-40e3-9c90-5a2765facc3d CLINVAR:7840 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ef599c9-3a15-4d92-82ad-b2a378d8db62 CLINVAR:186427 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bb9ccc43-cc2d-4c9c-bcc7-51f3910cb965 CLINVAR:186427 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f652d3e1-49ae-4d51-8d41-50b374eef3c9 CLINVAR:142261 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e41390a4-763e-4a22-80bc-7a4ac0250d81 CLINVAR:142261 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d6e5af6-2fba-4eb7-9468-70bca99343df CLINVAR:186161 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9c3cb80e-93a5-4422-826b-d64bbd924380 CLINVAR:186161 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e82898b9-9ad5-4674-a892-469e90310a6a CLINVAR:184878 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 40cdfe4f-440f-4df0-9398-ccd8ada0e9b4 CLINVAR:184878 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e20bf98a-f2af-43c4-8faf-c92aefc5b105 CLINVAR:127696 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a1d2355-0265-4776-a5f4-2422a48bbb1c CLINVAR:127696 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7d49d7e-a87f-42af-b4aa-c6f1e0857aa6 CLINVAR:45304 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 17a2bc86-dac9-4a79-acbe-642f00734ad1 CLINVAR:45304 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abbc86da-98cd-4f11-8ae4-10aaf3c79903 CA16020890 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 05c9cd58-2701-4330-b533-d53b545142d7 CA16020890 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da75ffdd-1183-4ea4-8226-e29707637b67 CLINVAR:376018 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2b4fc1e1-a3ce-457a-8bf1-1fd840da9b82 CLINVAR:376018 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3e415f6-e8fa-48fe-b1b8-9ae84781b512 CLINVAR:545522 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d09db0e3-e8be-486d-b044-11cd3722ca1c CLINVAR:545522 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44aa86b1-7b84-461b-99ef-036ba0d780f1 CLINVAR:14467 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 18c2dd67-4239-4d3f-8e1b-55a0c15f4d13 CLINVAR:14467 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6a97899-f976-4ec2-a26d-f0023a9026d5 CLINVAR:561222 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 59db5fb4-100c-4c80-9802-d7e17351a395 CLINVAR:561222 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64f0993a-4c50-49d9-8de1-b22de3420966 CLINVAR:14465 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 64ee575b-1f29-4ff9-8547-0c2601c66baf CLINVAR:14465 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9680d799-a139-4437-b97b-ef5527f57f45 CLINVAR:429813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8c649dd1-585c-4ee2-a130-89cac6ebe171 CLINVAR:429813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6fd01cf-920c-4a71-bd89-cd124eeab594 CLINVAR:14468 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e876865a-c7bb-4cd5-86b8-f08f2e94a53e CLINVAR:14468 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffd447e5-a238-4bc7-9030-dba03974e8ab CLINVAR:14471 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 23fadeeb-5039-4ded-9e2e-3179248c1257 CLINVAR:14471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2defc917-e9d5-4be2-8951-aa46c51c533e CLINVAR:417961 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 364e1ea0-61d3-4f13-93b0-7e80ca3ceb6d CLINVAR:417961 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0fba4b4-5e65-42fe-bae1-18498a3b6087 CLINVAR:212089 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 84913258-6bdf-4203-af19-6f87c6d94cb3 CLINVAR:212089 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5b2af5d-c6c3-4966-b21b-36f1fb79ae96 CLINVAR:14464 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7c1fab47-5682-4577-91be-7012e7b066ef CLINVAR:14464 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03b3537f-cbe7-473c-a097-34d8a5f51195 CA410146870 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d578bab-9f9e-48fd-861b-577ddb212625 CA410146870 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 419842a7-9d3c-41e5-809c-326a13ab25d2 CLINVAR:463988 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8422230c-39e2-48bc-a6a1-f2e34b303687 CLINVAR:463988 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ca0d3a5-7508-4365-b200-9a8acbdfde7c CLINVAR:14470 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 82bad3b1-17a2-4959-a3e0-f2f52e3a0d43 CLINVAR:14470 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc383c5a-84d0-4c44-a742-7909a8684894 CLINVAR:436616 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 97bd99b7-e9cc-41ca-a94c-d6f496418168 CLINVAR:436616 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a26559e8-98b6-4885-8c9a-f36ed78e464b CLINVAR:14463 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 03995571-af33-4088-97ba-ad01ae0f8767 CLINVAR:14463 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 835ff4fb-f74f-4831-be14-c303ac792cae CLINVAR:409822 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b0f981d5-d0bb-4cfb-a729-fd7750d0d7df CLINVAR:409822 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93e551cf-bc4e-47b5-83f8-90c52936beda CLINVAR:14466 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c3c4e5c0-1aad-4c5e-a06e-4953c821badf CLINVAR:14466 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 813f9ebe-9a78-4f37-b755-3e97cf6a3d97 CLINVAR:532664 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 17aaf015-1baf-4eb6-9d31-1cdb56d96abf CLINVAR:532664 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7a61ec9-a8ea-4125-8804-a6c57bbff8cb CLINVAR:339874 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e025353-d1fd-40d6-93b6-7ad554eca1fc CLINVAR:339874 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c87a9730-189c-4a8e-b75b-3c68086c3671 CLINVAR:436611 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bf936c15-669f-40cd-a7e3-a37118840c97 CLINVAR:436611 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f33eb20-9b82-4d98-9cfd-62392bcc0322 CLINVAR:532662 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 180f42ef-cde3-43b8-b685-ce849b1949e5 CLINVAR:532662 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d02d3efb-3e4c-473a-9229-a9cca3f755b3 CLINVAR:436618 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d481b41a-4199-427a-b6df-4f6e9e7b161d CLINVAR:436618 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c723dbab-bd6c-4942-b6c5-dbc796bc2b1f CLINVAR:239044 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d327fc11-af3a-4d26-860f-7c2533cea959 CLINVAR:239044 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 717bb38f-88f4-4f24-b29b-16abfac836ff CLINVAR:339878 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7db31723-12cb-4d4b-88c6-d79c4cdcb82f CLINVAR:339878 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a81a5b1-a3b9-4ed8-a735-ee7780fb776b CLINVAR:532659 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0a9ddaed-1802-4aac-9dec-f2e22c99d5ee CLINVAR:532659 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d89f8b24-a0f3-46b1-ad19-6f2bd2bdb4b2 CLINVAR:561246 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed4c1fb7-81ed-45c3-97ce-107ca0efb5ab CLINVAR:561246 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b382839-7c93-4a7c-84de-1c01fe9a0efa CLINVAR:561243 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 19a58e07-9afa-47cb-8b09-35f3f3db9f28 CLINVAR:561243 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6e943ae-7e8e-45cd-8907-04f5580a5495 CLINVAR:463994 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e32dad6a-0eed-4c99-8a12-ba572635ed8f CLINVAR:463994 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9696ed41-5f98-4f3f-9a28-06c51963b945 CLINVAR:532671 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6c4e4a93-b6fd-4aa2-bcea-1a3b2ac39495 CLINVAR:532671 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1d2c38c-7d79-4a09-a45b-11b2c94959ee CLINVAR:436617 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e086a504-7b9c-4915-84d1-262e5a0b0706 CLINVAR:436617 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00e9b3af-eaec-4738-be8a-d0b02d9015d1 CLINVAR:561233 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 95182fe6-1738-4f8c-af3a-bc6c242a97cd CLINVAR:561233 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffe85786-318c-4524-abb0-7b9ce00a1b95 CLINVAR:666274 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d9ef981b-4e49-49ae-ae0b-110c3c567c09 CLINVAR:666274 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10b53559-0bdf-46ec-8e43-5c70086b5ee9 CLINVAR:417477 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 94dac504-0ed6-4944-b98b-a458c68903e2 CLINVAR:417477 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5411ee96-e962-4b0d-a7b0-b1f6df085758 CLINVAR:463975 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cef139f8-bb4c-41ae-852a-ae4cd4e109fb CLINVAR:254081 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 02621b4a-2f51-4ad4-9c34-2befdc16e5ce CLINVAR:254081 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a958f4a-a9c9-4f08-8cd8-abe06248f024 CLINVAR:120275 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1636b076-0f2f-4de6-98a2-0c404a4e2426 CLINVAR:120275 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72fe061e-04e1-42d3-ab7f-5c165daa4e8c CLINVAR:102892 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5c6bcd59-31e7-4ba6-8f09-8fff7991210e CLINVAR:102892 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7b69e52-b64b-4acd-9f17-5d25fcad3095 CA16020877 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0f47a649-b45b-45b0-8d51-b40acae18773 CA16020877 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 659f0b5d-cb9a-4c67-b245-c2cfe4d29586 CLINVAR:125436 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 36a151ef-e282-4930-9388-17c418686d19 CLINVAR:125436 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51f3fcae-bfc3-4431-90a0-eea032a8d225 CLINVAR:120278 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 02656881-bee8-42e6-878b-5940f51a3baa CLINVAR:120278 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c1b25fb-ea33-44be-9670-126ab210576d CLINVAR:102832 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9d9c67cc-92af-4cb6-8791-82b81815983d CLINVAR:102832 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed9777a6-4b9f-402b-a94d-2aca13a18877 CA16020720 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f3347b7b-8e11-4ca4-93cb-59a2c113d63b CA16020720 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76868497-bc19-4bb1-afdf-f49c7e21983e CLINVAR:102749 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fa4dadaf-cd14-4403-97e8-00f2060fccc9 CLINVAR:102749 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 358700cf-6e29-43c1-b9d2-90a59c54ca33 CLINVAR:102757 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4212cb10-17c8-4b71-9ef5-19d440f6931b CLINVAR:102757 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ba9a9b2-cd87-40b0-96f7-9bdabeae41fd CA16020722 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 70bfc0e7-dd4e-4c26-b7b9-4b0cb72b149b CA16020722 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe6f7781-2733-4ca9-804d-249e2f5a9dac CA16020714 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1b66a7b0-7faa-444c-8ba9-af9bccd93c6e CA16020714 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d8ef638-51a3-4ae5-9d74-c98617cc8efc CA16020715 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e62b975-e36c-421a-8da2-664e01eaaf13 CA16020715 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1a93608-d09e-4848-8601-93914d05b136 CA16020716 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bcd5e3f8-65b0-4c57-b8de-e7aa6a510941 CA16020716 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99decc9e-d842-4309-9369-e5be354a599d CLINVAR:21385 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a48781a7-fd15-4e07-be39-1a5670877a50 CLINVAR:21385 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd797bed-344d-4a31-934b-cdfe5472e596 CLINVAR:444219 biolink:causes MONDO:0020678 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e2e13c48-1263-4234-873d-52d00e12201c CLINVAR:444219 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c9ebeec-c115-415a-a99f-199a654af131 CLINVAR:2356 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1e9e486d-31c8-467d-a8d0-43038bea3be8 CLINVAR:2356 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65d5d80e-a10d-4da9-a344-8d4b21d74043 CA891862634 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bb1ca2bf-ecfe-41d7-af93-9bb4ec10e26e CA891862634 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cbd049a-48a8-4007-b97b-08b44a1d0011 CLINVAR:102597 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ce565f2-6ef0-4a8b-9c01-8cac0e43e528 CLINVAR:102597 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6585fc6-9476-4560-830b-c33d9693eae5 CLINVAR:120310 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6c4a6241-5bca-4f42-bd5a-d1e70b930168 CLINVAR:120310 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4029dcfd-7f97-47e7-8a26-b95b3f8fac0e CLINVAR:611 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 31e2c352-e7b0-417c-92cf-198299d5e96d CLINVAR:611 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 285dcd4b-617a-410a-8df2-9c63d474458f CA16021002 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81a24198-8cab-41dc-8178-5ce83e973155 CA16021002 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b961369-b19c-4d32-b2df-15a2f4e42098 CLINVAR:102531 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f505121e-3230-4ba2-934a-86dccc0a519b CLINVAR:102531 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f967863-ecb5-4bdd-bb8e-d5cf5e77582a CA16020735 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d7db094d-160a-4e4c-add8-400075ee940b CA16020735 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a2c9017-20df-4b3c-99ce-42fd5d366fcc CA913184971 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ee8a571a-b60f-4de8-a55c-c0308de803ec CA913184971 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a0135b9-2809-4238-8b4c-e6a5a65ff014 CA16020737 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 770c1b1f-4418-4d8f-a7fe-b007f90e102b CA16020737 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae1e3d9b-8da7-4817-9813-6822f30d1a94 CA16020872 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3db1ef54-6453-43e5-a224-a209d2762693 CA16020872 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eca82d5e-8c89-4567-b797-8efe5fb6ef92 CA16020746 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3aac60cd-b678-40de-8fe8-c9c015607fdf CA16020746 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ef1ff3c-949c-42d4-b621-6247e3a370bd CA913184978 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 78bade5a-4577-4cf5-a682-855d6811d1d7 CA913184978 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a878a11-2886-490b-8daf-2e22a312e1d9 CA16020742 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 971c770b-191f-47e1-a0ac-57af7c74efa1 CA16020742 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 208dcd05-7c77-4d79-9bec-c074f90b1c40 CA16020759 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ecd0c6d9-287d-497c-b2fb-c496449ad1e2 CA16020759 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1875cca6-930a-4e90-b28a-1b6ae4340196 CA16020888 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 677e1cbe-e2da-426a-9072-f577147ea0ae CA16020888 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2907322-d1a6-4843-980b-41651d22af20 CLINVAR:102888 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 95b21467-8b2b-4b6a-8bd2-d988657449b6 CLINVAR:102888 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a578525e-f53a-4297-8df9-f85b00538474 CA16020730 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4d3c2572-eb46-499d-b9f4-1e1bd31e80d3 CA16020730 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a04618c-58ab-4a38-9ffc-741275815bd4 CA16020721 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f2aa3dbf-011f-4f94-80b7-813208127eda CA16020721 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d017ee9-2ce0-4afe-8587-a4087b0d95b5 CLINVAR:102607 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bddf9bb0-c50d-4989-8d65-64e01344a2b3 CLINVAR:102607 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3f7ccf1-6dde-4b2a-b50a-7303f6ddce3a CLINVAR:102613 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 45a1b5a1-c1be-4e78-a257-df86f80b967f CLINVAR:102613 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79321685-a4d4-4fe1-9ad3-43f8e45c31d3 CLINVAR:555212 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dd75c0c9-ca39-4e7c-826d-135186d7a00f CLINVAR:555212 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0ddf590-a005-4ba9-8345-8d142bcb585e CLINVAR:2355 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 31eeaa74-8e33-4285-9a0f-d8ce3ccb361a CLINVAR:2355 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef8f3176-7ef7-4c58-a7f1-0d12e76f5218 CLINVAR:140803 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2f3e3f92-8743-44fa-84a3-9162f5a30765 CLINVAR:140803 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2cfbab4-4f2b-4c85-9bad-a68ca6911c3e CLINVAR:545785 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6f8c9a48-5db1-418f-968b-8d92e8642203 CLINVAR:545785 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05fbc9c2-5f31-4792-94f8-af58f74201ca CLINVAR:582514 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d97a7cd-72df-4d9d-bfd1-3bc1e291186d CLINVAR:582514 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45a424a4-45e8-42ab-b65c-22157707d077 CLINVAR:545738 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ff73d845-9265-40b9-a78f-324887e1f214 CLINVAR:545738 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0390a2fc-04b8-4771-9bae-09331b09a406 CLINVAR:578952 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8b06562f-45e5-45d2-96d6-9c9906e16d3a CLINVAR:578952 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f180059a-f12c-4f85-880a-f1cfdef249f1 CLINVAR:463743 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b2f8e5f3-aaf3-4ac0-a035-2efd76a19d11 CLINVAR:463743 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fdd6f96-37a0-46b9-8f31-0ce9143ba5b6 CLINVAR:142888 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2b24dd5f-e42a-43ac-9b18-2359e3749395 CLINVAR:142888 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba2b4986-2f62-49d1-b407-d424603508d6 CLINVAR:141206 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7bc2d714-9833-4520-9e2c-40c1b3032861 CLINVAR:141206 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1858d988-6911-4fd8-a2ad-fefb749c7482 CLINVAR:406669 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1250e325-89fe-48ad-8792-e67024e23b8c CLINVAR:406669 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4209d628-2e01-4e22-831a-8dbd78c3e74a CLINVAR:483251 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ceb6ae44-3ae3-464f-ab1d-26941c41c008 CLINVAR:483251 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90b49a3d-38bb-49fd-93a0-ffd44a4be478 CLINVAR:406628 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0615cf87-9847-42ac-8b16-2a5baad751b2 CLINVAR:406628 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18b6eacd-bcec-4701-a564-960cc173aa98 CLINVAR:406616 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6d43b88c-2dc9-4a43-800e-18a49f77a072 CLINVAR:406616 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79f5113f-060c-4e39-9693-491a7ef7be21 CLINVAR:483227 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c096e5ab-e7eb-42cf-a2b9-9555a52187ea CLINVAR:483227 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9707bd0-1f3f-4db9-96ad-5611c9bfe498 CLINVAR:422315 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9143ebe8-2f9b-4559-9b6b-3fca4b1a3b49 CLINVAR:463742 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3cf0d43b-b36e-4b7f-afeb-aac79bad8d29 CLINVAR:463742 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a4c8d8d-46e3-4276-bbc7-56f88abb17e5 CLINVAR:239891 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 223347ec-be7f-4e30-9983-dd3038dbad7e CLINVAR:239891 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58c572a4-6720-4ba8-8bec-43d2bf40529d CLINVAR:231923 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fd6efdf3-ad20-4b84-b670-c55dd13ed448 CLINVAR:567608 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e25cdaf1-8add-47c7-9ad4-598652feb6a1 CLINVAR:567608 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3c37fb2-dd6c-4d80-9022-607b3127a2ac CLINVAR:187239 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 09721ffb-1b10-4c88-8c13-ad0e37ff5793 CLINVAR:187239 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85a01c5d-f1f6-403a-bbec-9890d4e26b85 CLINVAR:233979 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dee28fdf-67d0-4e13-af77-0167afa87e82 CLINVAR:233979 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bef119d2-98c4-43b8-a4a6-d5cc70bf2ff1 CLINVAR:230451 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b1acf035-06fc-4e53-8d90-bf92be16f0e9 CLINVAR:230451 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dff9c8d5-d296-45de-8440-2313e798b362 CLINVAR:156374 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6df42fe6-de4b-4d15-8ba4-155ea8a3a57a CLINVAR:156374 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7efccc31-0c9a-498f-88ca-308658d57b26 CLINVAR:234595 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 45eb4709-bf88-4708-a50e-c540c0a7cc04 CLINVAR:234595 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83f39c6c-0fe7-4c88-acda-2e17a71cc1e0 CLINVAR:234594 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e9ec46a9-1ec1-4d50-9425-2940656c7718 CLINVAR:234594 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8c0ed1b-c6a4-4c60-80d4-9c39234f6c6a CLINVAR:183750 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d1351f92-34b4-45aa-9060-8c03ced96d79 CLINVAR:183750 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbfdaadc-b135-4054-824e-5a092f80dd51 CLINVAR:12240 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc5fc5e5-8ead-4803-b129-648596e0a910 CLINVAR:12240 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75bee97d-7abf-452b-ad9b-e1e367a47f75 CLINVAR:406646 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e6c0f52-6dc7-4d3c-9907-18b1b08600df CLINVAR:406646 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a90cd86-84cf-4a35-bdab-52a71eaf43f1 CLINVAR:491538 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b416aff8-272c-4082-a2c1-d394552494a0 CLINVAR:491538 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 704a92f7-3bd7-4344-92ad-b154f7306755 CLINVAR:406644 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 36e9edd6-5cb6-4eaa-9f7a-e8a5cf9d6124 CLINVAR:406644 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57a963f2-4e48-425f-93fe-2d993f01d5fd CLINVAR:12234 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 50296609-cec1-4db0-940f-a98f52d01c35 CLINVAR:12234 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e7fd037-c389-4c95-8bc0-d39412fcd94a CLINVAR:567085 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 19a860b8-3dcf-4cd2-8c67-6af5d5faf2a2 CLINVAR:567085 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7eac2e2-0435-442a-ad49-659e45fa9bf5 CLINVAR:182393 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 61ef90bc-0355-4e29-886c-7e54ef8a2c97 CLINVAR:182393 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c19d708-9f01-4805-bd47-4371c0e61bfa CLINVAR:230948 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6f7451c3-839c-468c-a35e-1c5fc25ff1a5 CLINVAR:230948 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cdbace6-111f-48ad-9bd0-a6d376f4286b CLINVAR:419385 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 90b614db-f0c8-4dae-adad-0992c668b80f CLINVAR:419385 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a10b7a6d-7e92-4337-82dd-0d128c224af8 CLINVAR:141661 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e321a2af-f28b-48c7-88c2-36ca3d971d53 CLINVAR:141661 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a532503-6ec4-4fe2-bcdc-64fef2eb1955 CLINVAR:496819 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen da7ee50e-ef2a-4835-a1ee-fb63cddceff8 CLINVAR:496819 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9b7041d-6eab-4905-aa68-b1a71ebb290b CLINVAR:428618 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2d874ed6-0609-4939-9db1-86f1dbab0c6f CLINVAR:428618 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3f1883c-0b2a-44f8-8111-1b405824ed92 CLINVAR:492677 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2537f496-18cf-46a7-81b7-e8856f807928 CLINVAR:492677 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d39552bd-559d-451d-a6fa-c95b3306ca87 CLINVAR:12236 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b54ec364-4846-4770-895f-c836b232557c CLINVAR:12236 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64743583-ced5-447e-abb1-46e5dfa39014 CLINVAR:185408 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6b13ca3f-cf0f-4e10-a08b-63a91d061da8 CLINVAR:185408 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbf2f1fe-6c6e-445e-b28b-ddcf8beb47e3 CLINVAR:230956 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 16c0a306-1895-4d9e-b04e-cf815036bb51 CLINVAR:230956 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cb525dd-759f-4a47-a9f7-39eff1b25956 CLINVAR:12239 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e26b1df0-f983-433f-8a7b-ad1483262e36 CLINVAR:12239 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9441d3f0-a3ee-4af5-89ed-ef84e5190695 CLINVAR:548782 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 074272e2-665a-48a0-843a-ca6a2a4d585d CLINVAR:548782 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07e25115-e2be-4fa0-b38a-a220b8349a2f CLINVAR:179479 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a3595b37-3cd5-4aa5-9a73-67d2771a33dc CLINVAR:179479 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2343bfc6-f94d-4cc2-9961-b8fc9cb15178 CLINVAR:141951 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4cc3b7ea-f0d8-4297-a74f-79d36d6d48b5 CLINVAR:141951 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c8da1a2-3acd-4266-aa38-52fa10003037 CLINVAR:239909 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b6972975-509b-4a2e-af0d-141de507059f CLINVAR:239909 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f815261-000b-4340-952c-52c973642816 CLINVAR:428628 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ea46f97c-077a-4b09-bd07-fc04ee2a6d72 CLINVAR:428628 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 079c4e11-cc0f-45e0-b4dc-55b0fb98cc77 CLINVAR:279747 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f23ee259-426c-412e-9ce2-98a3eea7b73b CLINVAR:279747 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ffce17c-5faa-438c-8cef-4c822f17d246 CLINVAR:186618 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d3172abb-854e-4985-8a3a-adeb889327fd CLINVAR:186618 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25812f73-b8e9-4b36-ae59-67fe1304ba12 CLINVAR:43528 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2c2f569a-b13c-4b36-9b45-bad1f2940237 CLINVAR:43528 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 760a9e79-5e8a-4917-bb8e-6c8b6d684f20 CLINVAR:43527 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0abe2753-a10b-4d44-a504-c0cdfe2cbf62 CLINVAR:43527 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67650f22-2078-434b-9500-7e2e08047434 CLINVAR:255733 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a070205c-64f0-42c0-bcdf-45ff12b1c8e7 CLINVAR:255733 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb378ae1-5de6-4e0c-9d54-2c0712d2786d CLINVAR:616 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 977d29cf-8e94-458d-a86b-5fe678efe284 CLINVAR:616 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c62f500-d427-4ff9-8a54-b1b830bcd613 CLINVAR:430401 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 725c2abb-2399-454c-a85e-d41b320d63c7 CLINVAR:430401 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 336f231e-5cb8-4a1e-ba22-7f1cfe618753 CLINVAR:194161 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 49f43724-3bb3-46e4-987e-9cfb229404a3 CLINVAR:194161 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f88911b8-257f-4064-aa37-a0b9c1a74a92 CLINVAR:102565 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2557051b-6b7c-4db3-99fa-dab7514f1f04 CLINVAR:102565 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6376a81-ff0f-416b-8526-9022c920feca CLINVAR:439227 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc4dad11-b089-4164-b8ac-6035df7b9d33 CLINVAR:439227 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be91ecee-2225-4100-ab73-7f4be3183a49 CLINVAR:102674 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 34511002-611d-4a40-964d-60e71eee6942 CLINVAR:102674 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad817e79-c181-4add-a9dc-084efd63467a CLINVAR:102633 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1e31fb24-0a4f-4f89-87ec-8203c2d1b3cc CLINVAR:102633 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90c9e1a2-32a6-40cb-a734-40afd8a31690 CLINVAR:120292 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0db89b53-3ac4-46a7-ac5a-e02874a05a3e CLINVAR:120292 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7350ace3-f7d1-41fa-acb9-4f7a5215c165 CLINVAR:120296 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 303d943b-8932-4ddc-bc66-240d11a91a2b CLINVAR:120296 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f1348ce-ae86-4cee-869c-21299950719a CLINVAR:120268 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3a727dd2-1b93-431e-ba08-24e21ba5039b CLINVAR:120268 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 291520d9-e27f-4389-84e3-79ce021702bd CLINVAR:102608 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 382ae333-9cf5-4394-8ae2-58225d1a8982 CLINVAR:102608 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc7129c1-9914-49c2-a0df-cad9acf0ff04 CLINVAR:40842 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1426c54c-44d4-42a1-ba42-6474738906f7 CLINVAR:40842 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92a97ffe-0776-4b9c-82e0-819a0f8e4f46 CLINVAR:181510 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e6ea8579-138d-4b72-87d4-7122f4be5bea CLINVAR:181510 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51d8ae88-5b25-4e98-944a-4f47cdb8050d CLINVAR:180859 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen db344f64-53f4-411a-b82a-1608a3cdfbff CLINVAR:180859 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cd01b47-ce22-4ae8-b966-81263d51f416 CA346367589 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b56d2327-fd5b-4e45-b121-5ffa5c323762 CA346367589 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7635a5c0-b647-4313-a8bf-18aabe96ae95 CLINVAR:438172 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f8fe0687-ae41-41d7-9a5a-4092695ae042 CLINVAR:438172 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f3f28ea-de79-48ba-971e-1ecb5ef6427d CLINVAR:45366 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a907c674-36ec-492c-bbdb-f418e5ee10a6 CLINVAR:45366 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4904c2d5-b74e-4e6f-b3de-5f655bef1d8c CLINVAR:4928 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3ae2e0e5-66d4-4c7a-b1ce-12205b7b7c93 CLINVAR:4928 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9efc75e4-05b4-44f3-bb83-906fd27c42ed CLINVAR:590799 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f98f688f-72ba-48bb-b732-9ef72dd219b4 CLINVAR:590799 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fbb624a-27a0-4b65-bd8d-52368046f8ad CA16020920 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 30e18b05-893f-44b4-acad-879ddcbdf8dc CA16020920 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd2dc487-ac34-4fda-ade3-05822535c1f2 CA6748732 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1e17910f-30e7-4c09-ab44-a5f40a08e3ec CA6748732 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eeabe812-92d1-4f23-baf2-beeae47e7630 CLINVAR:4926 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 51b3783e-8062-4e65-a277-15defff268f2 CLINVAR:4926 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94d20af1-b80e-4974-9d59-21b414dd1b04 CLINVAR:48503 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 72b6050e-4bd2-4e7e-805d-2c7defc2aff4 CLINVAR:48503 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e527c960-122e-4dd1-8f62-a266bd965dbc CA16020771 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 581cc39c-f096-4605-9d74-5ebe54e29c68 CA16020771 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eaf2dc7-efe3-481d-950b-e59d078c6079 CA16020929 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5c48ab8a-26c4-41bf-993b-0aee524b735e CA16020929 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a1a4660-d586-4361-909a-a919b887cc6d CA16020930 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 08cb24a5-1518-4e76-9ac3-937a79a90e01 CA16020930 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4298661b-20b6-4963-920e-5c893119232a CLINVAR:604 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 13ed2211-1f92-469a-9e64-51a49d8207ed CLINVAR:604 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fe837ca-934f-4b7c-af78-c43ccc12cb30 CLINVAR:102672 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen af5d3ef9-2553-4e8a-8403-00d2115b5f7b CLINVAR:102672 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11c0d9c2-c578-4966-b1c0-9111523f4750 CLINVAR:438177 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 523cc545-7431-410d-a535-37e08c4d556a CLINVAR:438177 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4145c271-7d2a-46af-b2bb-a23c6196b33e CLINVAR:430229 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0650cba9-a843-4af0-9f6a-ad3d3987a21a CLINVAR:430229 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e0a9bb0-c68e-427c-93f8-616726c4278d CLINVAR:179773 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f9755bda-95e9-45a0-bac0-28a8a35b8a7d CLINVAR:179773 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6be9c01-8818-4b7e-801a-ecc176fda2a0 CLINVAR:48395 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5f62af2c-4677-4d3d-8575-250a051756ee CLINVAR:48395 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc4ceb0a-1015-4e06-ae44-87b6184d9260 CLINVAR:226441 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd87d40c-c237-44e4-a801-d7d56311a71c CLINVAR:226441 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38a59de9-fca1-4f25-b74a-8dae62a94552 CLINVAR:43521 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 64ef04fe-dc4d-4f9a-90de-069bfc1f6d87 CLINVAR:43521 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5233a25e-5f63-4c77-996c-ce594d5849ee CLINVAR:43186 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f9332884-af25-42b2-bef6-5c15813a4804 CLINVAR:43186 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cd85cb3-3c44-45c0-a5fe-9628894f6492 CLINVAR:48544 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f1ede017-6856-4187-b0f8-ec0fc4a14c2e CLINVAR:48544 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 937038f9-2b0f-43da-be62-09a2e2ea3845 CLINVAR:48417 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b334cf74-d0c0-4f6e-a976-7cd06cbc06e0 CLINVAR:48417 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15a73b11-eea7-4fc8-99a6-7d865d475127 CLINVAR:429984 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5916c826-1337-4b25-b71c-0afc82c1d26b CLINVAR:429984 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a757ceda-aeaa-4bda-90f3-099535f14b4d CLINVAR:290125 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 65ccdd91-7067-4a37-aea8-928b25fbcf63 CLINVAR:290125 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3715667e-6982-45f0-bfe5-7de9beabb8f5 CA16020924 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 93dff1d7-e0ed-43fb-9a04-d52984a96ae0 CA16020924 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 652cf62d-87c1-4214-9030-e349b2f126ce CA16020966 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7fbe8c5e-1f6e-4545-a5e3-862ed1489d3d CA16020966 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb53a488-ce62-4296-8489-fc0351a374a1 CLINVAR:102589 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9e6b6513-68c0-4f4e-a586-817bb2356e29 CLINVAR:102589 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43ed0e00-1d38-4a79-87d6-71cb6a9d26ff CA16020931 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d30a0bb0-ad6c-4a02-ad06-780340df871f CA16020931 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1cac171-2f30-4803-b9b1-60bd3a5ef051 CLINVAR:102590 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1d0ce0db-3c26-4279-9aa0-88e3d34bbe26 CLINVAR:102590 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3adac83-419d-4f64-90ab-ba1d467fb801 CLINVAR:585208 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2fed834a-102c-4831-aedd-a9685ed68404 CLINVAR:585208 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d947f748-fcfa-4ee0-8f95-3cd7cb5379b2 CLINVAR:120293 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen abaee156-5d7e-4951-b00e-26a6d56e38b0 CLINVAR:120293 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a11bbb6-8377-4851-b6a1-d1197d5f56e7 CLINVAR:120295 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 19f6c3f2-d9f0-4273-9358-9a279781dc7e CLINVAR:120295 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 643208d0-c685-4429-bacb-013537894959 CLINVAR:120294 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c300536-2202-4a5f-bce9-7b5170a0ae63 CLINVAR:120294 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97567a87-1027-4fca-acd6-b97d27c5d095 CLINVAR:549954 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b960c168-79e6-4a21-856f-bc993bc909b8 CLINVAR:549954 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0de2497-7f75-4bb7-9b7b-7fecdb113157 CA16020754 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bde699ae-31b3-4efb-9fe2-bb4ba99b6efc CA16020754 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be652308-cded-4f0f-91bd-fc3d073305f4 CA16020755 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f0a947a-bd15-4fe0-a1df-0b5721128daa CA16020755 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b174b4a-3d51-4332-93f1-76326720dbc2 CA16020778 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8b6a290f-b841-4deb-a3d3-319a47cd8dd8 CA16020778 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5689496e-baef-4c70-8da2-f5949fe012dd CA16020782 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bfb16ee7-6d80-41f0-a433-cf02e967b998 CA16020782 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 610a1cd5-bbad-47fb-b2b7-ed8c08d8c56d CA16020789 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15544f0d-b948-44bc-8211-72f53dcdbc0b CA16020789 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 599357c1-f520-45b7-b448-7d9d66557918 CLINVAR:164724 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 30b3e6b0-92ea-4567-a6aa-d55f751c8f6d CLINVAR:164724 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b5abdd5-7f93-437c-959a-fab5cb1469b1 CLINVAR:178667 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 418d68a1-90b3-4db3-b703-df424f5fbbef CLINVAR:178667 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18b573d9-1562-4188-a15e-f37b31a96dc2 CLINVAR:43335 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 22fb4bcd-7760-46d3-b28e-26f608800816 CLINVAR:43335 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd8e2c80-dfe1-4311-a418-4d558f4337dc CLINVAR:43541 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f20cb957-4d5c-4779-a613-ebce90e39e1e CLINVAR:43541 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c842e7cd-22a5-46e1-83ba-072d3cc5c5e2 CLINVAR:208366 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eba34780-f2f7-4366-901b-4f2f67d39564 CLINVAR:208366 biolink:is_sequence_variant_of HGNC:6298 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 900cb2de-9c04-455b-8ab6-38eecd0cfe05 CLINVAR:43292 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 576dca06-d566-4ec0-8f0e-bde9055f5b97 CLINVAR:43292 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e7fa432-ac0d-4241-84e4-0c3191da0bba CLINVAR:422345 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fa664844-745f-423e-adde-9d003cc8bc96 CLINVAR:422345 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bfdff77-1458-4d19-934e-66bf4b604e2e CLINVAR:228484 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e14561c0-8b90-4967-bd98-f8a78e1c0b02 CLINVAR:228484 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83e3e505-b419-4674-a3bb-42867b77db13 CLINVAR:228500 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8ec1d8b2-978d-4f89-8cda-fec602670515 CLINVAR:228500 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae47c143-bbb2-4237-906f-350305d344c1 CLINVAR:181547 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e130a94-b4d8-442f-9f29-abd78ba54f3d CLINVAR:181547 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1015e94f-d867-42d5-b484-1e9e7edad700 CA378386067 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 97f2a4f6-56dc-4f6d-9788-0cd2b3e76183 CA378386067 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bafb2cec-99d5-4a96-bf33-b2dc630caec6 CLINVAR:428277 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 30003201-ea66-45a0-8d4d-8618e64cde7d CLINVAR:428277 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4d6ff47-0528-4ec3-b74a-ff503b1933f3 CLINVAR:142878 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd161009-0e9c-47aa-81fa-9fe63759e29e CLINVAR:142878 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8710587a-9fe0-41e3-bacd-78d876df4d6d CLINVAR:40498 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cb8ac51f-b0cd-4068-9a1b-2bf2415c9a81 CLINVAR:40498 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77978e08-6899-49b6-8dbc-c7453b39d2be CLINVAR:279960 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3656855c-a967-4942-8fed-a92c980d45f7 CLINVAR:279960 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe81609d-14dd-4db8-9fa7-eecd58d604f3 CLINVAR:13341 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cba8dad9-59a7-42f8-abdd-6f360a25a9a2 CLINVAR:13341 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b164e763-2f1e-46d6-9a57-2311c60a5429 CLINVAR:484600 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 30838c2e-657f-48f6-8a12-523b2a1194ba CLINVAR:484600 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3954956c-13d8-479b-beec-2a0edf581b60 CLINVAR:142018 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 06dd8c3c-78d6-47cd-84c5-3fd1cd99add7 CLINVAR:142018 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4c4b0e3-f21b-4c98-b720-104aaf9e6144 CLINVAR:234144 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac1374fc-3f9f-4234-a6a0-1f18d34fe68e CLINVAR:234144 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d616c28-2355-4800-82be-3326e3e4ce6a CLINVAR:404168 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e3a71692-a46c-4ee6-90c3-ccfeb03c10e0 CLINVAR:404168 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91644337-c9f6-4db9-b8af-21cebbfe91f0 CLINVAR:102573 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 479ee70d-20ea-4bb9-be61-4b1402f5fbe9 CLINVAR:102573 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c2f943e-9113-4948-a21c-29200634ccaf CLINVAR:629 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7b95380c-e86f-4bf3-8561-706f2148a189 CLINVAR:629 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f34186ef-6088-49e6-b87f-921e7b907e6e CLINVAR:102680 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a876a82e-deb9-414a-bb5e-950d1c852d6e CLINVAR:102680 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3525457c-e3db-4b85-bb58-84efca32d5a5 CLINVAR:102685 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d8586c14-b899-4fcb-8c13-7313ce35a1b8 CLINVAR:102685 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c32d14d0-0192-4c02-8bc9-2897628995d7 CA16020948 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a59b9d35-eb1b-4d32-ba75-dfcb8246f4c7 CA16020948 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25d8c7ed-83cc-488a-8ccf-400122a78014 CLINVAR:102915 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cdb54cb0-0e9c-4a71-aabf-760903fc9b35 CLINVAR:102915 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19c3d355-6167-4e5d-91ae-35a258399366 CA16020995 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 10f00b42-8bd0-423c-840d-ef300ee17216 CA16020995 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61501052-eeb9-451c-aed4-eb140ccb7741 CLINVAR:427599 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 77c7d827-6ef2-461b-bbf3-784060385f8f CLINVAR:427599 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06a0ada0-0aa4-4f9d-862e-7645fdf7fe7f CLINVAR:428256 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 407b22db-280a-4669-9d18-49d0550d38b5 CLINVAR:428256 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31f1bcf9-7707-469e-9bef-564b2bae7733 CLINVAR:127688 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 352236c8-8c46-4eed-9504-1781b9548477 CLINVAR:127688 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffb76872-de85-49cc-bd68-bde74a977cfd CLINVAR:189415 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c1c7987b-337c-40f4-ad37-7f93388a4ad7 CLINVAR:189415 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2152935e-39bd-4181-8863-33ae54ad9892 CLINVAR:404160 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8c14030e-d551-4a81-8557-0f33e56c4b7b CLINVAR:404160 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 894adc3e-0e69-44bf-a005-fd8379c7a15e CLINVAR:418653 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8f1ecdd1-c060-4032-94d2-183f01a14a33 CLINVAR:418653 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68f35e8c-1c03-4a4d-90af-aa177994bb34 CLINVAR:421055 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e24bf0c-9192-4a00-bea4-b80ef3fb6c8a CLINVAR:421055 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9176f2e-ebe5-4ced-a4b4-2559ab9814f9 CA410202469 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8d15b2dc-02ec-4f79-bcd1-10621479114b CA410202469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36a1cd39-cc25-4ea8-87a4-7af6a9fc7050 CA645614124 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4cca4937-f83e-4dac-b820-1ef9a383d7e0 CA645614124 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 296756bf-a915-4796-a9f2-0f0da11325d2 CLINVAR:561253 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f1dc4925-87bb-467d-8ecb-b4628eabdc42 CLINVAR:561253 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de98b035-b175-43ca-891d-2846da688fe4 CA410207972 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ad992fcb-e81b-4f01-b37a-91eb5568813b CA410207972 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b184b4f-049e-4fe9-9ee5-364f769df58c CLINVAR:869209 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f48f561a-1d06-41d9-92f0-a3d8c9988277 CLINVAR:869209 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8ead37e-0583-4534-b125-5ea1e4dd817c CLINVAR:869210 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e67a7ef8-2a98-46b5-846e-1d87f729a440 CLINVAR:869210 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0d64164-078e-4658-9735-8ab9bd9b76c4 CLINVAR:618862 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 70de7cec-3047-49d2-8a5c-c0331c311f00 CLINVAR:618862 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d41f24a-8080-44d0-853e-39b82cb335d5 CLINVAR:532683 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eabbea80-c414-40ca-828c-05f6d5354c49 CLINVAR:532683 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc513993-8f20-4726-92a4-c24cae14c962 CLINVAR:464005 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fbb12a9f-bf9a-41b7-9b2f-36e52faeeddb CLINVAR:464005 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 008e64f4-f76c-4cc5-92dd-14fe10ae671a CLINVAR:415836 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 09c40b67-7e5a-471b-be16-c6304798a925 CLINVAR:415836 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb17cce0-819f-4479-a652-8a985ca89354 CLINVAR:234282 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a8ed737-7d60-402c-bfb7-942e045c4c0a CLINVAR:234282 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8804e273-9282-49eb-a119-c485fada4045 CLINVAR:422227 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e0aa2819-36e2-448d-9e16-dea666aad0c7 CLINVAR:422227 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24445011-60b8-4c68-8e9e-90f153945080 CLINVAR:420004 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 17ef2b68-dc1c-463e-b2d3-7070c1e1222c CLINVAR:420004 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0703dfef-dd5e-4f35-8f65-79157114a09c CLINVAR:463795 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 22e0e62e-643f-431c-b27a-99b036661293 CLINVAR:463795 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2f48a9d-ea19-49a5-b2a6-e45b74168414 CLINVAR:437928 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 153f0e8a-b0bc-4749-b169-b4f9d4bff745 CLINVAR:437928 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65932cd3-cc32-4183-a0f5-2b2d82dfc32d CLINVAR:229907 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f4035eab-ee1c-445a-b858-cd76ababb491 CLINVAR:229907 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c81c2da-aa9d-4c41-95b9-60707457c911 CLINVAR:231528 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 03d9f301-c0d7-4726-81c5-589bafe88f29 CLINVAR:231528 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ada8064-108d-43c0-ab67-3754335f86da CLINVAR:224528 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2490816a-606d-4f0a-aa85-275e7a5dab79 CLINVAR:224528 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dde8d7f-5bc2-4857-af70-9960845b56dd CLINVAR:428620 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 30bd5bd9-4aa8-4d05-8f36-3443332413d2 CLINVAR:428620 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2423291e-8598-4196-9872-6004e5bfbda8 CLINVAR:220776 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 25ccc1db-e965-47ce-83f0-edaa1d024893 CLINVAR:220776 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66eb03ed-d87e-43e7-8023-855873371f56 CLINVAR:428626 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e835c63f-81ba-429a-b1c0-50b145d05633 CLINVAR:428626 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b3b4212-7641-4ebd-ab09-a782351278d6 CLINVAR:463772 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 47727830-eb01-4f98-ab15-2652653fd7b1 CLINVAR:463772 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3bc56c3-cfdc-4385-b4f8-bbbb2d3c1e15 CLINVAR:406624 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c13f72a6-ec5b-4b7a-b960-ae4efcdf398d CLINVAR:406624 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f16c4c39-3381-4b22-aace-b5e5cd0a7feb CLINVAR:463790 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0972db3a-fac2-4d35-86c1-d4dafd0efc23 CLINVAR:463790 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c318a957-4b84-4c01-b31e-75d0ee22737f CLINVAR:569046 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 30138a20-4ae0-4546-bb03-d492f849ae25 CLINVAR:569046 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5d57062-9941-4fb4-813e-504715b85f2b CLINVAR:239903 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1845be38-a4b7-4b46-acf0-cfbd0eede466 CLINVAR:239903 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcf1cb06-4068-4239-bc98-9737aa6544ca CLINVAR:463781 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 807bfc47-9159-4e9b-ab42-31324e7bdd86 CLINVAR:463781 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d02498c-a75f-4b92-a1c6-c42b28791605 CLINVAR:418533 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 92adcdfa-44a2-4fdf-b444-7cbf6f565e0a CLINVAR:418533 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06cfb196-5819-444e-8266-d11584c0e26e CLINVAR:281818 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0732a0ed-ea1f-426c-884e-b7d4989adda9 CLINVAR:281818 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f564c27-3874-43de-94d7-fc82d156fac3 CLINVAR:133312 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a742ab73-6f8a-4aa6-a90e-30d0ee7f405b CLINVAR:133312 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa3e903f-d6fe-4707-a693-f2998556ba95 CLINVAR:196222 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b6d21767-75e4-4a27-8221-0fb73ab436a5 CLINVAR:196222 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb244e12-4a15-4f52-917a-c521511f26d4 CLINVAR:325774 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 51bb7161-becf-4e78-bc7c-73235a8af238 CLINVAR:325774 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 285c393d-6595-4ba7-b79e-420946736d65 CLINVAR:557429 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 951ecc3e-4d38-4b38-ad82-8c507a913032 CLINVAR:557429 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aff93498-1200-41a4-aad5-17e83db9cd69 CLINVAR:230112 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3e28b4a4-9fd9-4002-9b53-c9ce3a6fdd4c CLINVAR:230112 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 463cf848-6ed5-4555-b02f-e28839484eb4 CLINVAR:406578 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 431a2d6c-556a-4db7-982c-85e8937c79da CLINVAR:406578 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a00757cc-31b1-4ffa-9c3b-983a53178c28 CLINVAR:127819 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen da578d3a-ac96-4fd1-b806-d6bdeb7780d8 CLINVAR:127819 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85f7fd73-650e-4e1c-85a6-1655a5e7b7bb CLINVAR:142766 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 39bceae3-6265-4930-abe3-d9e3cb2716ee CLINVAR:142766 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88711296-7e6e-43e7-939b-10919e2bde77 CLINVAR:245711 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f7104e53-628f-48e3-9e79-3af1ae66cfc6 CLINVAR:245711 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7549ff5-9900-4029-abd6-d1aeb8412a35 CLINVAR:233951 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f535d667-8e26-43e7-9e47-69b79ee10917 CLINVAR:233951 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 073b38d8-b267-4065-a6e1-026a18f5edd5 CLINVAR:127814 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c7bd1b60-8c4a-4526-99fc-68903161ddad CLINVAR:127814 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89c82d31-e5cf-4f41-94ca-021fed9d6ca7 CLINVAR:376615 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7e21fe2c-cb5d-4d0e-bd3e-bf1a93cef830 CLINVAR:376615 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e62f8e6-3e67-4c8d-b7c1-a9169d94e47e CLINVAR:12375 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6e9f1b21-c226-4561-aa6a-fa3aa10e6b55 CLINVAR:12375 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13428a04-8a56-4360-8b92-32649bb260db CLINVAR:93323 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d4c18981-253f-4057-889d-d4cabecab9fb CLINVAR:93323 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 479601d1-71ae-4103-9142-8d3132c7acdb CLINVAR:12347 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3fae5e8b-6408-476a-8d4e-03bebb3b23ad CLINVAR:12347 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed6b3b53-b66e-4105-9c85-4bb987188682 CLINVAR:43587 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0235bff1-5edc-47fb-9c68-a53c9be46321 CLINVAR:43587 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62f53240-f4a3-434f-88b1-6f8505c6f40f CLINVAR:230253 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 29eb3d62-1178-4822-8aa2-0ea1cdb809f0 CLINVAR:230253 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b718feb-8a28-4f0b-83f7-a9b50e83e9b1 CLINVAR:482223 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a4c5b634-c6fb-4458-beba-ac34b94fcaaa CLINVAR:482223 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14b67544-f28b-4172-8154-e9e51131b434 CLINVAR:376563 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4ad2e82d-98df-4790-957f-9d62eae17023 CLINVAR:376563 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80ee67dc-5ac6-4111-9382-6111359e117a CLINVAR:428898 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4f4bb49b-6393-404f-a557-7105f8de42aa CLINVAR:428898 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c9515d3-fb00-4378-9670-378d78fc15b2 CLINVAR:458537 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 72044599-f773-4ab4-ad69-e11482fb3d3c CLINVAR:458537 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41f70ba7-ba8c-4254-a85b-aed59803f19c CA397842518 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7f42ec15-f1d3-46a2-8a78-5dac14c51f01 CA397842518 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b84427ec-7871-4d32-ba3f-da352b9fc1b0 CLINVAR:428862 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ac2ada2a-9df1-459f-b128-5fa33bc441e2 CLINVAR:428862 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98d3f0bf-701c-47c4-ada8-a752c28d32b3 CLINVAR:12366 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9e5b01e8-5b4b-41a2-8b18-97663d288d2f CLINVAR:12366 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 605daac7-d5ac-4fc9-a3ec-c236ebfc41b2 CLINVAR:12356 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3449693e-e543-4435-90bf-5cf1a98d10a7 CLINVAR:12356 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7aa1ac4e-17ee-4a08-90d4-f957e7f7dc77 CLINVAR:182969 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2ef387bd-2284-452f-8068-1a003223e093 CLINVAR:182969 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9da645c-e51b-4612-966b-e60f28844d8d CLINVAR:376612 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fd42b6b5-eac6-4d72-ac70-7ea1b0d9a52d CLINVAR:376612 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1b17f84-9c18-44f6-9eee-add3dfdd207a CLINVAR:102752 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7e295f56-04b5-49ff-bee2-8df8c3616539 CLINVAR:102752 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bec234c-4c18-42e9-a739-6cb335b43199 CA16020725 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d3d39359-44a2-4628-b75c-a15bff7b111a CA16020725 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a21cc2e8-5496-48e9-9328-3b8c070df477 CA16020790 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5cff362a-1db5-4b6f-9ded-e38860d16546 CA16020790 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd8c8659-7de6-47c4-a51f-fb1d387dc62c CLINVAR:619705 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6b2438ec-555c-43c0-9ba2-4ca49f597d1b CLINVAR:619705 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc441545-05e6-4938-81a1-51a5baef539a CLINVAR:102684 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eaf8398c-9367-4384-a54a-a52567e7a41c CLINVAR:102684 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 183e382c-78fa-42b0-9be5-620c080256f8 CLINVAR:102662 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7d40fe2c-0342-4c68-b45a-4db3829dbabd CLINVAR:102662 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08dbf557-f016-4b80-93b3-97f03ff315ac CLINVAR:102722 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 04307e1e-a29e-4dfd-b0f1-08c1c7cc4608 CLINVAR:102722 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dddf4381-4d7e-4a94-bd5a-cdc2567881a9 CLINVAR:286662 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e9213872-0d27-48dd-9dd7-d2b65320e02b CLINVAR:286662 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 255f7058-7887-4a17-8396-1a07aec4a22d CLINVAR:422049 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 815fc121-3801-4b98-a349-773797156187 CLINVAR:422049 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f26e986-ebb3-489e-9e6b-065749262f7e CLINVAR:102916 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a7a2687-f9d7-4a44-98d7-915c63202ee7 CLINVAR:102916 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4e0a581-9c87-40a9-bc22-26c3ec65a3e2 CA16020739 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c806ebca-f5a0-4859-a04d-4e11bdc25301 CA16020739 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa9874b2-735a-40eb-8cc5-4efdaf848928 CLINVAR:501777 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 00e283be-68e7-4eff-b662-803579c6ffb4 CLINVAR:501777 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7ca70e6-ddf5-4655-92a4-4d88ca30a50e CLINVAR:526521 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8c9086bb-8aae-4d55-a6aa-2bacdb84d587 CLINVAR:526521 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9303345-2ed1-4512-b9e4-62985a22bea2 CLINVAR:286458 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce80a9e0-57a9-494d-86dc-bf56e32b83c4 CLINVAR:286458 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86ddf80c-9e28-4853-b50b-9622e4dc4eef CLINVAR:283971 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3413681a-c572-44ce-ad2b-a57654efb9c1 CLINVAR:283971 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64cd5242-f929-4c5a-aff2-057154276c37 CLINVAR:288505 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 37dd4fc3-ed5d-4ae4-9a62-f327d017dd55 CLINVAR:188936 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b7350734-6b6a-4b2d-a83f-2be22ae45d0e CLINVAR:188936 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65b7ee0e-a8af-4814-a61e-b5ca41959558 CLINVAR:188904 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4c9cb03e-bad5-42b5-b656-d468abcfe17b CLINVAR:188904 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen befc3f6d-0093-456c-a484-1d0dd15273a0 CLINVAR:189025 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cf826544-4521-4d72-a5f4-b26c3ab268da CLINVAR:189025 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8770ec1-4c04-43fb-bff3-035c992a2f8a CLINVAR:189009 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 65ee437c-f6ee-484a-90d2-0e908af045c7 CLINVAR:189009 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf713527-3a74-4fa8-b247-ce600b7fb7d8 CLINVAR:526535 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d32a7a43-3d9f-4c02-930a-b0280b1b564e CLINVAR:526535 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f22b8ba-fa86-4f43-bc21-6c93bff478a2 CLINVAR:550713 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3dfd9de8-60d2-4301-aab5-fe6ce8a727b3 CLINVAR:550713 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 550dda22-35d4-4e1b-b9f4-763c40554096 CLINVAR:556985 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cfe75ea1-3f26-4295-b9b0-f1dc401a2bfa CLINVAR:556985 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaf3f4e5-421c-46f4-80cb-7a922962f875 CLINVAR:932898 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9cc5cdff-3c7f-4b81-87ba-ec4c892edee3 CLINVAR:932898 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cfa2259-8fbe-4358-b7e1-f011451c5cc6 CLINVAR:932901 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dcbd5ce9-2acb-48a3-82ea-81024fdd7bd5 CLINVAR:932901 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8da99178-3601-4f4c-ab8a-d17ceb01c6dd CA401361056 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 96746803-1645-4762-b9e0-cb54aaa501e8 CA401361056 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8a4a4bf-f65a-4d84-8803-74268123586d CLINVAR:495665 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d41833d5-5103-4596-98f7-12fd92c50083 CLINVAR:495665 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19703997-d980-4ceb-bfab-009a5720e724 CA658795235 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ee5dddde-3557-41ee-b2ef-5244ffd12229 CA658795235 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3420b12-e695-4e21-986c-4265d29e5652 CLINVAR:370357 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 97beeb87-6b3c-48b5-a7a5-fed191a4db44 CLINVAR:370357 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75691bc5-7577-4955-b676-f95bbc73f91e CLINVAR:370124 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0dd54fa2-4fe0-4438-87f4-fad5079daf51 CLINVAR:370124 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b37ad485-da39-4acb-b966-1089031c39fe CLINVAR:189144 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 202f4bd2-df8a-49b0-9032-be5b888aab9d CLINVAR:189144 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e36c858-3266-4e33-9f4a-681c71fc10dc CA401364293 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 68a6e83c-84d2-4f9b-895b-239b7cebe49b CA401364293 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77db9d57-0de8-4c9e-9ee0-62fc4f379d21 CLINVAR:574052 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6e368e1d-9e35-4d54-9065-6904302cda2d CLINVAR:574052 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a87c005-9520-4e9c-a0b8-318c1fae3dc1 CLINVAR:556975 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a747d739-d610-4b3e-afc3-e9e27c9e9fda CLINVAR:556975 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5aa93926-f773-4d99-baad-e15c7d136119 CLINVAR:102894 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5834a9ac-f8c1-422b-82cf-ad6acea341b7 CLINVAR:102894 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9154d9ec-383a-4ee7-87ab-8b36337a98c5 CA16020887 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c72f9b9e-e013-497f-8174-a2e3629b5d21 CA16020887 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd38ad6c-6052-4764-b738-dc063c634997 CLINVAR:13329 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a6d3f6f1-9abf-4046-a12a-9d0bdd082235 CLINVAR:13329 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3fd4982-0f02-4c99-8580-7b30ef76e6c1 CLINVAR:43568 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d750f493-4ede-4777-8a6c-e36d26bef544 CLINVAR:43568 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68ec96ec-7884-4ccb-93bf-105cea1c55f8 CLINVAR:43495 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4cefe9e3-563c-49d8-80f8-38a67a06c98a CLINVAR:43495 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fac01a90-6c5a-4c8a-9aad-5c51b2f1e4c7 CLINVAR:371781 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b9c7fe76-16d1-41e8-acf1-ed5469f89307 CLINVAR:371781 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3729794b-0c83-4eff-bf95-9a283e522002 CLINVAR:178283 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb73b2a7-1154-4f76-bc3e-506e5ff4c43c CLINVAR:178283 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b3637f7-5f84-468d-b553-8bc14559baea CLINVAR:92756 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 52955046-b1d3-4096-8e90-5a865804a1a4 CLINVAR:92756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc57625e-76a9-4153-a422-197496875ab6 CLINVAR:265979 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 104a6436-df87-471e-9b94-3e226df7987b CLINVAR:265979 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87c49a3e-f40c-4a02-a051-373b7bf3473e CLINVAR:549981 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7b2b32c0-4353-41de-b0b5-be80b8438f4d CLINVAR:549981 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a12b2cef-5b03-44bd-9b70-4b1ecad52a77 CLINVAR:177844 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 64568d6d-cc9c-4d0f-8680-3ae9fd991d04 CLINVAR:177844 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5efb5505-10e7-4d5a-a8e7-e270e02d4b71 CLINVAR:13975 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2244ef99-6347-4a5e-81b1-b716bb8f8236 CLINVAR:13975 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa34c844-8585-4353-9eb5-11d5c4596c2c CLINVAR:40370 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 52fcbea2-8bd3-4f2d-a12c-eedbb17a222b CLINVAR:40370 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62588f92-bf5d-4c72-b41d-abc3d80130d5 CLINVAR:225136 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e873b0a9-0249-427b-afaa-3a6750679c8d CLINVAR:225136 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1962905e-81f7-470e-b087-1a7a857bc867 CA16020831 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e4e2e3a4-3b6b-47f8-8aee-e4258f77575a CA16020831 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 192b0891-e8f4-43da-84ce-fd70309d69bd CA16020832 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f90ce00a-a19c-4962-98e7-d56b31bdca02 CA16020832 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8df87b09-b333-42dd-8321-e9ff5f12c614 CA6748883 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 25a52c96-9d96-4e37-9f2b-1d32f4eff199 CA6748883 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03938263-fb24-4e4f-b2cc-5c2b13c5e59d CLINVAR:177876 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 201d4097-2445-428a-b860-c17eb7c88abd CLINVAR:177876 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 109ee8e5-d11f-46c0-94c1-d97f9508b609 CLINVAR:41443 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 22ddcfbe-10ea-4c41-bbde-90cba0ae38eb CLINVAR:41443 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e417643-2c4c-4b09-bc5b-ff0d433715ba CLINVAR:13964 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5efb063c-5997-4258-87f4-c0af2d5958b8 CLINVAR:13964 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ccd1679-fe16-4c49-8c59-7700863c34fd CLINVAR:561347 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2416ff75-540d-44f5-a2b2-be573b79243e CLINVAR:561347 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8c62788-65b8-49da-9b52-640b30141838 CLINVAR:222774 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e8ae87ea-95aa-4735-9845-bfd0b3e4d20d CLINVAR:222774 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb15a474-bde2-4751-a92c-09ea22dc3298 CLINVAR:477722 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a7c5f939-698c-4e44-a9c7-09a85a41d20b CLINVAR:477722 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 476558a7-f0bb-424b-b1b0-d6f65732007f CLINVAR:359048 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cb29b071-4449-47d2-8e3e-1a739a159f26 CLINVAR:359048 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a23a4563-992f-490b-848e-c7f1083c50f0 CLINVAR:40654 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d634dc01-27ff-4f28-af58-da4ec51b47f2 CLINVAR:40654 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e74f6c5c-f40a-408a-8800-5ad6833cf383 CA16020836 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1453696b-10ea-441a-82a5-90a1bd703619 CA16020836 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e6d01e9-647d-4789-a95c-dcc6155d090c CA16020854 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6c3e69bf-48ea-4acb-8691-6b361a1351fb CA16020854 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a94c9e12-0864-4247-96ba-7dc8550b201c CA16020922 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0f9cdb28-1fa0-48d8-8871-500b8602844c CA16020922 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02ba430e-455d-4620-b8a9-42b14e29d074 CLINVAR:228282 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a39e1310-206e-4d9d-b860-302a04356179 CLINVAR:228282 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05c3d9a2-52c0-40f7-a2fd-5fd23ca87dd9 CLINVAR:229012 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bf279f27-76b9-4534-ba55-308829abd8bf CLINVAR:229012 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75776d61-b83d-4f08-ada5-0ab501a66eb1 CLINVAR:43185 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 60690e92-c3e1-4826-9818-3ebebd22baf5 CLINVAR:43185 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e25b6638-07c5-4ac3-ba3c-6d2b87eba5a2 CLINVAR:569590 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b475ab1-7945-4592-8b21-5dc9d46662a4 CLINVAR:569590 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d716728-ad95-4d76-9f4e-a83cdb1c9d08 CLINVAR:181553 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e4acac6e-2eef-4b19-b3be-fc16aa408d06 CLINVAR:181553 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71255ce5-7e53-4052-817a-fba8be76b06d CLINVAR:561935 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d5c04ca5-4291-43f4-be40-c05b74861a28 CLINVAR:561935 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c87d410-b456-4d8c-b3ef-ffc379718c9c CLINVAR:228273 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d0b38921-7a39-4d6a-8b6c-96579283bcf7 CLINVAR:228273 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c283337-2a2b-4448-9d52-288ee47f1c89 CLINVAR:40388 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 381b9069-fd3b-4237-aaaa-de2b9cb432e1 CLINVAR:40388 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dc1f6a4-a2b2-4302-94cb-fd68b2a71958 CLINVAR:280033 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4c72d423-2861-4b54-b5ef-5356f5a393ae CLINVAR:280033 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcbe2fb6-9736-4a61-9ec9-5ab992667a82 CLINVAR:280939 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1dc7569-27ae-4303-969f-d7b4a20fcbad CLINVAR:280939 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b09be5ab-940c-455a-a91f-cc178cf488ce CLINVAR:575203 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f7858820-c39e-4a78-be31-bd7d84e6c7f2 CLINVAR:575203 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9479992c-5823-4255-aa3d-2037418ce14c CLINVAR:427613 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3dc1a7eb-4885-4df1-943d-1c1e08bd2ad9 CLINVAR:427613 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 755fe2f9-71b1-465d-adf6-d456cbf8216d CLINVAR:427621 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d3901793-11b3-44ed-b7d8-2584e01cf50a CLINVAR:427621 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf6d22bf-e5dd-4823-8a2f-0ca89e1de08f CLINVAR:427619 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a3c12eda-cace-407b-9130-670c2047a434 CLINVAR:427619 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73391cc9-3002-4b62-bbe3-c6cd844a0a3b CLINVAR:449089 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d8ed3774-2c10-496f-85bd-1babc45f3f94 CLINVAR:449089 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62a71c7a-3571-498a-8b7f-cd48ffd800de CLINVAR:141771 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d268af0-98e1-4f65-80ce-4567211dedd5 CLINVAR:141771 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1406e8a-f711-4eba-9dc0-1bac62414fb0 CLINVAR:142088 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d4abfd1-3733-471b-b6fa-c7a52fb059f4 CLINVAR:142088 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87c99ee7-32a6-4a48-bc4c-737d135cc177 CLINVAR:184068 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 45f31e5e-da58-4121-a763-c959afd94738 CLINVAR:184068 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34f3912d-3698-4fd2-8b97-172b855e8606 CLINVAR:135912 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen edf7d0d2-60f6-4a9e-ab24-6851616ce374 CLINVAR:135912 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5004e4c-4a05-4bca-82c8-b26313a43127 CLINVAR:301423 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7b43468d-b808-4f9f-985a-c3991273a491 CLINVAR:301423 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6462126b-1bc1-44f4-9851-b7d992a44e04 CLINVAR:428268 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4c1c0207-25e1-4396-bb27-8052b1a8d236 CLINVAR:428268 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fd285bb-818f-409f-91ac-1f3d605ee842 CLINVAR:189414 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c850684d-26d0-4175-ad0f-c3926d3471d7 CLINVAR:189414 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8636a7ee-0403-4af3-8e06-de2273c48940 CA16020943 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 577a8ffa-a5a8-4269-86c1-9bc0423cc465 CA16020943 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc6c78be-32c2-4c94-9940-d4961293b16e CLINVAR:102583 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e3b84003-f39f-4b08-8f6b-7b286abbab50 CLINVAR:102583 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6747b568-c749-4230-8f23-2485794a4417 CLINVAR:127663 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 28f7756f-dc8c-4e18-bb33-41c78ea87717 CLINVAR:127663 biolink:is_sequence_variant_of HGNC:37212 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3eba73cc-d765-46c6-94fa-a318a809f55d CLINVAR:102922 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1f2a918c-b95a-4be6-ac56-d73523d7fe94 CLINVAR:102922 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0cb2a5c-6e89-49b4-93ac-79120632fe36 CLINVAR:102879 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cab4269a-9058-48cd-9582-27abca4b184a CLINVAR:102879 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d0c1f2d-e768-4650-83af-bf8a6bc8c14b CLINVAR:556894 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aac8ae5c-5a71-4f6f-b325-b5af3f3551fc CLINVAR:556894 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf04dd8a-5862-4efe-b7ba-3fd9ec8ec29a CLINVAR:102852 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 472db332-6410-4bc8-aa52-7ac881f33e0a CLINVAR:102852 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c1e9727-96a5-4d9c-9b20-57913b1d4339 CLINVAR:102782 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 872893a3-f493-4bc6-b0f6-7a27d8198839 CLINVAR:102782 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2835ed0a-80ea-4f03-bbb3-027e2a58b51c CLINVAR:625290 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f906ee00-e401-4541-9737-76b46520076e CLINVAR:625290 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae48d87a-4888-4905-b9fa-f96b1f71915b CLINVAR:625286 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 19c7fc5c-5545-4e1a-aacd-89861314c21b CLINVAR:625286 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 786a8f60-266c-45e1-bf14-44aab8b47043 CLINVAR:625287 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bb0ad61b-50fd-4575-acdb-65289fd72882 CLINVAR:625287 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 897f8157-89ae-48c8-9fd3-8230dd9c2543 CLINVAR:553851 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a10f9ad8-cdec-4865-9410-73b227eb3ba7 CLINVAR:553851 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82b7380a-34aa-46a7-9f88-2d34ddab5e8e CLINVAR:102618 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f83b6559-b088-46d6-83f9-793ef9601455 CLINVAR:102618 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63e3a7ca-4d56-41d1-abf3-4787fa04d3c0 CLINVAR:625291 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fc58998f-7719-48a5-9056-5ff6991c1c69 CLINVAR:625291 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fd28514-ef9a-4a15-b9d2-baaa59a7ba92 CLINVAR:120257 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91fef706-017b-430f-97d2-75dea96f6a28 CLINVAR:120257 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cc7d1f3-1708-4d02-9a81-07526123bcb5 CLINVAR:120261 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f17574af-ef89-466c-b53b-933366698a1e CLINVAR:120261 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b2026f6-9118-42ce-a73b-d1f9686ecf72 CLINVAR:102921 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d53e0b3e-42fa-450e-a95b-4064cdfc03cd CLINVAR:102921 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c706eef-5af6-47bd-9be0-498a0d71f1c0 CLINVAR:579 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 013a0468-6e39-409c-a2e1-79b25dde522b CLINVAR:579 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 606a6a6f-8f4a-4e59-8547-74e84f053d9d CA16020912 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a28c2304-ea79-4df1-bf0c-042c960aa748 CA16020912 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c96b00e4-4737-49c1-9be9-60e00cff5b41 CLINVAR:102491 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 22ffbd83-f29b-409e-8788-99e20e96d51a CLINVAR:102491 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8867ca7c-399e-4616-9bb4-86f53050f31b CLINVAR:102763 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b30e80d-7576-4a5c-816d-a4bd1fbc9efe CLINVAR:102763 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e1daab0-442e-454d-b5f5-09650bea1001 CLINVAR:614 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 693b0dbd-f9c5-41e6-9e22-53f9446f572f CLINVAR:614 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bdd1a42-abea-4d3d-a62a-cba9ab3ed31e CLINVAR:625288 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7f3a1586-acf6-4179-80ca-a96dc58d5a25 CLINVAR:625288 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a92cb9b8-9df2-40c4-9d0c-91dc3fd95b48 CLINVAR:635217 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3b3fe0a5-54cc-4e90-bbf7-4e38c782d0d0 CLINVAR:635217 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5855e810-86bb-4712-be48-ee3fd1022009 CA16020992 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 391452c2-a0b4-4a15-b712-1f17df29e230 CA16020992 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2b10a09-1fdd-4728-81ff-2197180ed12d CLINVAR:449488 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 131789c7-7398-4c04-a1a3-2a9c7effa2b9 CLINVAR:449488 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de4c1f95-9477-40f7-943c-a05c6f4913df CLINVAR:224749 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d4ff7194-6d83-4830-964c-7c0d7960a838 CLINVAR:224749 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 809c9ad6-bfff-4f8d-b149-30adb8fa8c31 CLINVAR:102758 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e95fc5f-6548-4058-83cf-ddd800d5a5bb CLINVAR:102758 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdf542d7-8fab-4304-b72b-2adc8e2189b8 CA16020953 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 54e9cebb-7018-41b9-8a1b-90776b2f6fbd CA16020953 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35c45807-bb5c-4592-891f-b7fad9474269 CA16020757 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 162d861a-6867-43fa-9b45-32b54c48205d CA16020757 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46c5bce0-2611-4a76-8224-ef8588321eb6 CLINVAR:102656 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a4afa176-0cca-4d2a-830f-e1fa3f51939f CLINVAR:102656 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb4b6211-4c3c-42b5-9b4f-fb310d6bc133 CLINVAR:665198 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b77e9c02-0310-4e1f-a5ff-eb9cec72ba46 CLINVAR:665198 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0596be1-6d70-420c-a1b4-f789ff922528 CLINVAR:102806 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8b298f4b-174b-47ad-a9f2-61d0484d923c CLINVAR:102806 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cfe1892-3ebc-4083-b3fb-2f77c5fcaf96 CLINVAR:102793 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e2ddf91-97f7-472d-bbdc-b9c9d54fac46 CLINVAR:102793 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ef39887-dece-49d1-8b05-e918f8fccf77 CA16020859 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d301c8dc-334b-4439-9d34-e6d96ed7affb CA16020859 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4402e6c4-30f1-4229-97bb-6bc774a1c434 CLINVAR:102509 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 76f434ae-08ff-4f4d-8b00-6d7992a9c11c CLINVAR:102509 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e20d5e1-8eda-4d0a-953d-64800e2cdbac CA16020946 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 46b81bac-b7a2-4f10-8783-1375aaccca5c CA16020946 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e3eb290-93f8-4767-a48d-2a79221245ed CLINVAR:43325 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a82e2df4-6fc3-4826-8594-b3edbbc9ea80 CLINVAR:43325 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9a7918f-c337-47db-bb57-bf21df3c0dc9 CA16020803 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f06ace70-9bdf-47bb-816f-2b7ced900d07 CA16020803 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65194566-e2f4-4ca6-91bd-1ce1e93977f6 CA16020971 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fc235b30-3b51-4947-83e7-24e51e993e3c CA16020971 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 413e2282-f0fd-4b0f-ba41-06e8036c2a17 CLINVAR:102576 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd6f154e-32d6-488e-8d72-e48f0178f432 CLINVAR:102576 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16c91a22-d34a-43b0-a237-d7ee6958af7e CLINVAR:102707 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e203417-19e9-4a42-88b6-813f5a04f35c CLINVAR:102707 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc3db6b7-0d4f-40a5-b178-a170e55eff27 CLINVAR:102535 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9fa17798-5bf1-4943-86b6-3a43a7ee8256 CLINVAR:102535 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3602cb4-3f95-4f3e-b9a6-a8335bf026d5 CLINVAR:283894 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a8f6af05-c883-46ac-a428-aea95ccdd227 CLINVAR:283894 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc78ac93-fe19-4494-b719-fb049c4b6466 CLINVAR:556334 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c9de2a13-2bbe-4645-8b69-d4b5cac0226f CLINVAR:556334 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4faf38a1-b9d6-4aa6-833d-a0274edd606e CLINVAR:556881 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6697c0a9-190e-4df7-b358-93c80aff14f2 CLINVAR:556881 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bf58752-899d-464b-add8-aaab0afd380d CLINVAR:196099 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c76540bb-1f6b-4e30-bd99-6ac7533a23e7 CLINVAR:196099 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f793641b-1927-4eae-aa9b-bf57f7fe1a1b CLINVAR:44633 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 59523cee-92a3-4a4a-ad57-66804e21f822 CLINVAR:44633 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 699eb3d6-55b5-4080-9a9e-dcd05c82efec CLINVAR:438796 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fa47c9a0-31da-45d0-aa25-f1bfcc81cd79 CLINVAR:438796 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01076f93-4af6-42a5-9692-6da9c4bacbbf CLINVAR:167260 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bb2e7522-b4ef-4456-a5df-59dff9502e9b CLINVAR:167260 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78fe0875-18e8-4410-add4-eb44ed3cb9d1 CLINVAR:375946 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 469bd3b6-0436-4552-b5dd-d73dfebbbbf3 CLINVAR:375946 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1707429-0daa-4204-b008-55f85460aac4 CA6748704 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e1a2cb2c-9ec8-4616-bae9-22d6acd7b0f9 CA6748704 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b1db3db-ff07-47e5-b075-62886623b174 CLINVAR:630 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1a21a2ba-d511-4263-9d92-ef687c028f40 CLINVAR:630 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa1bff87-cca4-430b-bb17-b3ae82e190c9 CLINVAR:609 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b1155c1e-a32f-4716-87f6-1414884b5840 CLINVAR:609 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b6ccd4d-29b3-4541-9701-904484fbd57d CLINVAR:621 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 32fe3d96-617d-49a1-b5b2-cab348cf3b25 CLINVAR:621 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 575adae3-140f-4820-8033-69fe26d4c6a8 CLINVAR:224753 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5da4ae5c-459d-47e1-a8ec-e890c6b1b55b CLINVAR:224753 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef58f450-8cec-425b-a81e-0917777a3393 CLINVAR:166479 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 43e94dd2-6cef-48df-bf66-497bc2ff85c5 CLINVAR:166479 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f7b9384-90d9-4a38-a3c5-1a593ce938af CLINVAR:178685 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 135d836a-12ca-4598-826e-947a0755b489 CLINVAR:178685 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c931e11a-271c-4f29-a0f2-77db76141fa3 CLINVAR:932902 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 358e433f-1b34-426a-910f-0ce2a2086357 CLINVAR:932902 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18488df1-7b88-4d0b-9310-4de22d7dd87e CLINVAR:371235 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 06ada85f-6f8e-4a90-bd4d-c6ad2a9a00cc CLINVAR:371235 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dce6e95b-5f31-4b9c-a23b-f8d6a13f5d4c CA294887189 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 605649ea-83ed-4806-b94c-c909b2b70d52 CA294887189 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8478b03-8a13-45a8-869c-207ea737844f CLINVAR:188841 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 535a509f-d0ec-41e1-8bce-5fbd6295a475 CLINVAR:188841 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c89cedfa-2b2c-4725-9601-0c158117dfa2 CLINVAR:370651 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5f3691d8-9160-4f49-a126-7925275fb9b5 CLINVAR:370651 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad96b593-01c3-4a78-a361-389bbfeb8a2c CLINVAR:189065 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7551d9d5-900e-44b8-aabd-cac2cf557ac2 CLINVAR:189065 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d70515fb-24e0-4d88-8b62-03101480638c CLINVAR:550355 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0d104e33-0c44-4e9f-90e2-6389c5d48818 CLINVAR:550355 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3936ff81-c380-48df-bb62-50aadfd710e4 CLINVAR:578595 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b5f0268d-45cc-4247-a5df-e0392b52946b CLINVAR:578595 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e214eb17-72d3-4857-b4da-e8187e38cc3b CLINVAR:560377 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9e5a25c4-bb6b-4ed6-9735-2b6d3bb083d6 CLINVAR:560377 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d04d7f2-1e50-4d39-ba24-a19b365cddc5 CLINVAR:654482 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0806c1a1-710f-47c2-96f4-35f507a996a4 CLINVAR:654482 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66c8c8e8-5636-4e8c-b008-6a719751c1f3 CLINVAR:637958 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dbc5fa28-c883-44c0-bfbc-c689bb1db1f2 CLINVAR:637958 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e48a7c91-b524-4bc2-b238-2824c8f3ef57 CLINVAR:188858 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2fe89ce4-3552-4f1d-960b-6d338f961af8 CLINVAR:188858 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98f13d60-05e6-4ef4-8e0f-5d85f285a703 CLINVAR:663894 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a8e536a6-c437-4be1-98d6-9c79743d14cc CLINVAR:663894 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff57d232-d361-41e0-9c9f-503da53c2d6b CLINVAR:372968 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f456b6d0-ee61-4fe6-9951-fa5987d56a44 CLINVAR:372968 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b10bf7e-86fc-4385-b444-055cb8480f6e CLINVAR:370268 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5f024ab7-fc02-42ed-9f14-75e5f6600fa2 CLINVAR:370268 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 315b9d29-e0ef-4888-ab5c-2e18fd9b50d7 CLINVAR:649354 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aeef26e4-c6b9-4ff7-a635-f15ea8b0fd4d CLINVAR:649354 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c126d5ac-f351-4a8e-8cb3-27f12f81b793 CLINVAR:552368 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d5bce53f-47f6-4556-ac7c-17c0658394b8 CLINVAR:552368 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeba1809-d8df-4f6c-b424-74dbc7032b46 CLINVAR:92479 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1dff03b4-c3ab-42ec-989e-1394e5e19fdd CLINVAR:92479 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7c7691b-3f76-45f9-ac5c-e63583ee02d5 CLINVAR:286229 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 54cd4cf5-1e54-4fb3-b440-4c38e4d41a26 CLINVAR:286229 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11c14437-8e95-41d7-b909-a705748bb6af CLINVAR:280063 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c940e3d6-f86a-40ad-96aa-26970139f14c CLINVAR:280063 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87770b1a-0fe5-4ff1-a62b-f92662a2c3d4 CLINVAR:370904 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 16dfd269-52b9-4945-a240-4b8273d1210e CLINVAR:370904 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38d65a45-9e41-43a2-8833-7226ed3b704f CLINVAR:429727 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 13a61a3a-bef3-4f19-88ce-c5eeb0019867 CLINVAR:429727 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0a81c39-ab0a-4638-a009-01d5034b6396 CLINVAR:4034 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6ff26c1b-154f-4b04-a33b-1e469fdfa5cc CLINVAR:4034 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d694b3b2-7d35-4767-9538-2bf76ba68c98 CA8815306 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6345ade1-8098-43e5-98d7-d26c1bacfa76 CA8815306 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 815b4e79-eaca-402d-b26c-3d99417efd49 CLINVAR:556265 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0fa8afcf-be43-48e0-a529-9209cf33c193 CLINVAR:556265 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81e74199-aae7-4e94-a2d9-013cdc4de637 CA294896907 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 11ff791a-5e23-40d4-b8d8-e3fcb22372dd CA294896907 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ced3557-9940-4a19-a5a3-67f0fce4cc3b CA913184909 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 70a43365-dcf1-4dba-9386-30175c5c14d6 CA913184909 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 404ccb32-dcc5-4204-9680-2483f84928f7 CLINVAR:188728 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cadae20a-c8ed-484f-a968-15b7863db9d6 CLINVAR:188728 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bad707a9-f2fc-4c33-96fc-a3fd8c6ae35d CLINVAR:426593 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 840877ab-b3e5-47f8-8e25-ae6b4008c9f4 CLINVAR:426593 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5172cf98-11c0-450a-8df7-eee2c3f20a56 CLINVAR:188797 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 07beb6b0-fb4f-4bc5-aae5-b3f11feafc98 CLINVAR:188797 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aee2170f-db78-4c08-ba3d-f67bf2008eaf CLINVAR:284093 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 74e4f7ed-854b-49c3-8649-22d5d9634d5b CLINVAR:284093 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6269e1de-aa20-49ea-a2b8-2acc2ea087b3 CLINVAR:379593 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9ee7b293-2549-496e-8820-5f58948a618c CLINVAR:379593 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa46c6a2-a0b3-41c8-a8c5-bdfed33ce106 CLINVAR:279811 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 607072a5-cb44-4c61-a9ea-3e93dbfa9dbd CLINVAR:279811 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06001344-e8cb-4c16-9b54-0f7c59044bfb CLINVAR:188902 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 35202983-cfff-4171-8027-dc10099f70b3 CLINVAR:188902 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 773fdf18-cc0d-443e-bf0a-017e0597c907 CLINVAR:188924 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cadb560d-7b91-4465-8f07-66bbe418b269 CLINVAR:188924 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c3dee69-a7e9-4641-945e-00584394649d CA658795262 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c0887055-7b78-4541-bf38-5b33adabc417 CA658795262 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9636e075-3a79-4427-9db2-6e595c3c5c24 CA913187393 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 44bad6f2-2783-4bfc-af23-a452ca771eb7 CA913187393 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad3c4140-c4c5-4563-8644-0e54acf86425 CLINVAR:188903 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6c4d603b-40d5-49fa-8cb0-3002cb29c9a7 CLINVAR:188903 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40d41c6f-c92e-4b3f-be9e-523b6e695eb5 CLINVAR:499380 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 081827d3-f08d-4023-83bd-dba930343066 CLINVAR:499380 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68901e2c-93ca-4853-9a02-51f27d22c4c8 CLINVAR:189184 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f5f61111-4f03-4727-97dc-d90ffe743a0c CLINVAR:189184 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d114cfcb-20a7-4baa-8f3b-65bf2cf9d8d0 CLINVAR:189188 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8a72d3c5-548b-4d32-bf74-f73ef2e6573e CLINVAR:189188 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1c8c0a8-dd5b-46b4-82b5-03b31f3ae8ac CLINVAR:102788 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2fba735f-e9e5-4407-bbb9-682300a4ab57 CLINVAR:102788 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fb9b663-0289-40f6-944c-0810810c8cce CA16020973 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 45fdf421-5610-42dc-8494-3b7f4c233937 CA16020973 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccf1ee2b-6e5c-42bb-8aeb-cbfb2ccc41a7 CLINVAR:102569 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 66d97b94-bdfa-4e41-b074-b725ea7362ad CLINVAR:102569 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3fb5af9-30f8-460e-850b-157f6262ecf8 CLINVAR:102759 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d6db4fe5-63b3-41a2-8466-091c3746dccf CLINVAR:102759 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34a0d774-781d-4416-8289-ee8dfa611b00 CLINVAR:102476 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3d9f2252-9c68-4ad0-86b1-4c0f93ba0b7f CLINVAR:102476 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf3571c8-2a8d-4deb-94a6-fbc6052608d6 CLINVAR:561221 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1a770179-40e7-4995-ac8a-7bdd0f007119 CLINVAR:561221 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdf9b9f3-d5a7-4497-8fb1-7961614167fd CLINVAR:561228 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5fb7906d-447b-4418-ac6c-feba77fdb063 CLINVAR:561228 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a54737a-4513-4855-80b7-a71e1bda5ef8 CLINVAR:532681 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd24bca6-e601-47b7-a15f-a09117ebcc6f CLINVAR:532681 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b4e4c0f-f051-4c8f-9185-1c145bcbd05a CLINVAR:561230 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 82ede1b1-e50f-4d00-9b7a-782b88f77e93 CLINVAR:561230 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9923943-0a0f-4ecd-bd12-d49466f25b3e CLINVAR:561242 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9c38a0ac-da9d-4bcd-8411-f5b6edbb9380 CLINVAR:561242 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c893a88-ec5f-46cd-a04e-4715a09810e4 CLINVAR:642956 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9ca41d66-bace-4196-b01c-15cab9a36094 CLINVAR:642956 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcf04e59-6bc9-4593-a6f9-2f810690710e CLINVAR:464001 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ae4c897d-98aa-4d97-ac04-1594b91441cb CLINVAR:464001 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6b853ad-a3ee-4f71-8fdd-c95b4d551541 CLINVAR:532686 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e7bcd59d-65e6-4f22-a170-b9d81cd051a0 CLINVAR:532686 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27a36d62-4390-4462-9a66-53304ba98f64 CLINVAR:561255 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0087613d-70e5-4c72-8ed3-41488e6451ae CLINVAR:561255 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e89f0a9e-3547-4c0f-a2b0-78db72867691 CLINVAR:532682 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b473275-6c4f-4119-ac47-db3a2f83ef63 CLINVAR:532682 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80a2d70d-a848-44b9-83ae-25fb5307f305 CLINVAR:581331 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c11a0015-653c-46ce-875f-775e95bb2fde CLINVAR:581331 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 888a44d2-f3d3-4340-952a-25e4160fa1cb CLINVAR:572808 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen da0d3a56-727f-4dc5-9f04-5af5b4ae9fed CLINVAR:572808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c4f250b-f7ee-47c2-bf41-f9bc6eb63835 CLINVAR:370276 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1d7a3fb6-f408-47f4-b04f-20801ab4fb17 CLINVAR:370276 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c213b1ca-2b6a-472a-a3ad-a658e247cf3d CLINVAR:188996 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7b3f3e6f-c3db-4d89-a7df-9cbf9cce3806 CLINVAR:188996 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f128d14a-fba0-43c0-acdf-a334a40fe443 CLINVAR:553894 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c201e58c-e762-41ce-8c8f-5a73cf06edf2 CLINVAR:553894 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 810e65e3-df61-4d23-83db-a413e145c5df CLINVAR:595469 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ecce7eee-9d4a-440d-98cf-f87943c647d2 CLINVAR:595469 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0f6c823-0714-4909-acf4-5d5a4784f91d CLINVAR:593486 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen be10661c-4c4a-4c0b-9f6a-ace6b61c5aa2 CLINVAR:593486 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 472dd5e8-f050-4ca3-b29b-0b14c187aad0 CLINVAR:183727 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 809634c4-2cd1-4959-ab2a-d39837ec22df CLINVAR:491537 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2afa7bc1-d1d0-494a-9467-34f53f1d6af2 CLINVAR:491537 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11a874e1-a8d2-4813-8f4e-ba62d554fbaf CLINVAR:421431 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 72dea2cf-505d-41c7-a697-ac97b7bf50be CLINVAR:421431 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f87a3495-d477-4a2e-ab22-934efe7b99e3 CLINVAR:406652 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3863c91b-9957-4a9b-b85e-cc56599ad10c CLINVAR:406652 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e676d3d7-16df-4335-919d-571618d7b01b CLINVAR:449922 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 524dd9d0-e97b-4907-a5ae-9230dab3ff24 CLINVAR:449922 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01988d07-3157-425d-a5e6-0c00087d51ab CLINVAR:532473 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 600f79f7-3ec2-41ab-9307-b6fe1c8dca38 CLINVAR:532473 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3c2e27c-cac5-485e-9a7c-c7f6a51128e9 CLINVAR:428623 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 73648a92-67ed-41ad-9e3c-7329373fc0a4 CLINVAR:428623 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f9a6c9f-a851-4290-a9b0-38b2bba31609 CLINVAR:186267 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aec8bda6-0b51-4645-abab-de92788d6158 CLINVAR:186267 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11d6f8a2-c767-4934-98b2-ccb8327752f1 CLINVAR:545807 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ee3f5458-69af-4a1b-b540-704ff4b75b72 CLINVAR:545807 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff352180-6524-4137-bfd0-0de28b55d05b CLINVAR:265543 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 29f10dce-85ed-4c28-8f21-f2e4ec228874 CLINVAR:265543 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed5c268d-c5b4-4e5a-96e4-187131579bac CLINVAR:483271 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4afa9631-4b68-4c1c-a367-bc23c7b11cca CLINVAR:483271 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbdb0cde-ba1d-4a43-8c45-b0f251d0f02d CLINVAR:485481 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen de556f08-8af2-478a-9496-0894d781550c CLINVAR:485481 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dfd4c68-1ef2-4e5f-a054-084eaf042c36 CLINVAR:428621 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 18fc504b-f2f6-4611-a9c2-204b663b2d95 CLINVAR:428621 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c921a937-e2cc-4067-a7a9-089d35a3d1b6 CLINVAR:479518 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 70995d78-28f1-4a93-b9fc-6f886b18f347 CLINVAR:479518 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79da501b-d16a-4ec1-b45a-8012543c7f71 CLINVAR:265511 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8fde4fac-305e-41fc-8dce-067ea4e8e158 CLINVAR:265511 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b0eb8c4-7fe2-4d20-97f6-202f5e3cb774 CLINVAR:216589 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 99dfe75b-1194-4fd7-99a3-d95d892ae402 CLINVAR:216589 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d6c89f7-f47f-4654-b489-c2320aa3bead CLINVAR:234654 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 43b2daa8-4a7c-4739-80cc-36884accf9b9 CLINVAR:234654 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b02e54a4-d9fd-45fc-9e7e-21c7e1494183 CLINVAR:142826 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c3a8c49c-6cda-406e-a1e6-0496e0130997 CLINVAR:142826 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c546618b-9438-4962-8f28-7bc5b630e25a CLINVAR:463735 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 12aa4355-9813-400c-8b58-f9c43aae07c0 CLINVAR:463735 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e3f56ce-8615-4f29-b817-1d561014d559 CLINVAR:12237 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8139e30c-3676-4d7e-b121-7362cb5342ba CLINVAR:12237 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc1568be-6da6-4297-b2cf-20c0a6adb85b CLINVAR:136065 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 56dc50ae-3317-4ef7-9fa8-76b293d8f18f CLINVAR:136065 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55fe4a55-097a-4982-87fb-c5adddc92c8b CLINVAR:479524 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b39678b6-f95b-49f9-843e-db1c8e0cc29f CLINVAR:479524 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 980aea09-94c3-40cc-b30e-bd882d7fbb23 CLINVAR:423041 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41ee84b0-e508-4c6d-bf51-d72b4a4b51be CLINVAR:423041 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28cffb1f-881d-4a5d-8665-33c60799e456 CLINVAR:406654 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a6fbc8e-a7aa-4171-9975-b9fc78024821 CLINVAR:406654 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76a4277d-acab-478d-9e14-97e73faa2eeb CLINVAR:481011 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c16c11c-4bc0-4c17-a9b0-0e22d57317fc CLINVAR:481011 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ea2c4be-3d01-4a83-a94e-78fb0e12da51 CLINVAR:428631 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b9e62391-db9f-4496-84e9-d2a313013622 CLINVAR:428631 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07f2ef9a-5366-425c-a0fa-aa59bbd6e03d CLINVAR:406633 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f6cbe533-6f81-45d9-b60a-7cea95d62403 CLINVAR:406633 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d23b92b7-ecb8-4e88-9611-73ba26222010 CLINVAR:418111 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21de1ff7-4373-4f0a-bbcf-04bb003a84fa CLINVAR:418111 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47e8ff45-65ea-46cb-8ebd-80f11136d94b CLINVAR:428632 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0e8e010f-ea6c-45a3-9b64-fd423ce82c4b CLINVAR:428632 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f81bccd-60b4-4354-ab77-15d18029563e CA16020723 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2517dd1d-7c97-4d67-b1b1-285434a6b506 CA16020723 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a2a4323-30de-4e3f-9b51-824e89734242 CLINVAR:102514 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cf8ca1be-2c7f-47aa-8470-5b2eef52a3ba CLINVAR:102514 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c30a4e0-60ae-4697-8d1e-28346437a926 CLINVAR:21389 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8d7b85c5-7674-42aa-98ec-d70be2762fb3 CLINVAR:21389 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1245aa1-85fd-4736-a940-3cc565cdf377 CA16020867 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dc35896f-b78d-4ee2-bb6b-c574c8443e2d CA16020867 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 883aadad-5387-4f98-b96e-d3fb1dc46e37 CA16020880 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 20a200a3-a9db-4e29-82c8-54006884e1f1 CA16020880 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5372bc15-e0b5-4608-a1f3-93dc0e776765 CA16020919 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8c438030-8bc6-415d-84f2-968a56394f51 CA16020919 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b15a5c1-0fe8-4eb5-bb51-94fd65374dbc CA16020945 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6188a6fb-1269-4a89-9847-bc9d70c123ea CA16020945 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8eeeec03-4a33-4aa1-87ee-159bad89fde9 CLINVAR:553594 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8acdb88f-f85f-4ee9-ae4a-1f1989991faa CLINVAR:553594 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47b67b07-4a97-402a-b5c9-7f64a00b8c04 CLINVAR:164664 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b2f1a29f-cf5e-4a00-ac5d-0326259c0ab0 CLINVAR:164664 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c33d31c3-ace7-4008-bd38-b7c8985175f1 CLINVAR:561500 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c79582e3-2712-4675-b7d9-a6b2f4f698c7 CLINVAR:561500 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fbd900e-0dd4-46d1-acd4-a9822c71ebfe CLINVAR:40389 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b5c1a3c7-3abc-445c-a89b-767175b8d822 CLINVAR:40389 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cf55acc-1d16-416b-a023-9a89fe9dc3ab CLINVAR:44603 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3a893ed5-b3c1-454f-9902-eac371ff875c CLINVAR:44603 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d67f330-42ea-49ef-a1c2-59a70f2d491c CLINVAR:504514 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e091d89-31a9-4d22-b031-15b0b6ff7f89 CLINVAR:504514 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 773acb67-a9e6-4a75-b370-0509207eed34 CA16020906 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f1c3d6c4-11f3-4709-9384-791c2bdee309 CA16020906 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0ca5f3b-e049-4651-8b81-b3a192b7f802 CA16020975 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 49fd160c-6646-4b6b-bfa9-ef3a488bc6f8 CA16020975 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a84f2ced-3b1e-4f1b-99f4-a965ce276f17 CLINVAR:626 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b6ea8a3f-8694-4a9d-8ee0-4f9b98178064 CLINVAR:626 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45419cd3-3cda-4b11-be6d-6c901013a85b CLINVAR:634 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6c5fd595-df8b-4bde-be1f-2899c42231c8 CLINVAR:634 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a28fdcfb-3e8f-4576-b9dd-7b2411219d6b CLINVAR:625289 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 77e5fdcf-8fd4-4bf8-8b30-2c1479dbca9d CLINVAR:625289 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e546d750-3a9f-4013-bf14-3a8b372157f2 CLINVAR:626282 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 55eed305-a55e-48a3-a30c-65e09f757f38 CLINVAR:626282 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c436a45-8bbb-4639-8ff3-a87c6950dfce CLINVAR:523937 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b61ea99b-adb1-403b-8302-eb88ce3194cb CLINVAR:523937 biolink:is_sequence_variant_of HGNC:7605 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c33f48e-5c87-43da-9059-3c6d752974ca CLINVAR:429215 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 14f996c4-db55-40bd-aead-c814a7aa1dc0 CLINVAR:429215 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6093125d-70fa-4498-8c8e-7a2fb4bd4267 CLINVAR:188878 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c7079fdf-a1d3-4250-a78d-4ab4ae83ddbe CLINVAR:188878 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ca3c7cf-7ad7-4487-b3a2-9f4738c3ad6c CLINVAR:236537 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eebbd3bd-553f-47ad-9bd8-cb11e6a6f4cb CLINVAR:236537 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02da16c2-a4ff-48a3-b791-a472f3f1a744 CLINVAR:166488 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c9e77992-91a2-49fe-8c1b-bfdc3d707e75 CLINVAR:166488 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a124855f-9d5e-4a2e-b776-b76ec3f4e853 CLINVAR:120284 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc1363a2-4bdc-41e6-a43c-4af32c7d4a34 CLINVAR:120284 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4429e8dd-55f8-4a87-bcca-cc2318e5998b CLINVAR:43298 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ad7f6f03-8250-4aeb-b0de-3adf63c6aac0 CLINVAR:43298 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a106c847-4d58-485b-a853-b4698a36f445 CLINVAR:44731 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3bb83889-94d6-4331-be26-dc42a104803d CLINVAR:44731 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e74845b9-7c3a-4a6f-98d5-b5d04e28e3c6 CLINVAR:44829 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3b846a4f-3259-4322-a319-948786b418c0 CLINVAR:44829 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 135f0fc2-542f-4249-9d94-6747fe69aa37 CLINVAR:40367 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4cb94e38-6b4b-467a-8ad7-b563996bdceb CLINVAR:40367 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29d4caef-a1e3-408d-bc88-8131289f771b CLINVAR:280446 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 976bad01-0818-4ba3-812d-f7dcd3bd1a61 CLINVAR:280446 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7832358-8d5c-477c-9956-82b826ee093a CLINVAR:44832 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cad9b5d0-6385-486d-9452-2da5af2f5671 CLINVAR:44832 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e80bcd5-e948-4f48-ae1f-3acef70f8ca7 CLINVAR:375981 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5b409479-2813-4d42-a67f-7d27bea3dba8 CLINVAR:375981 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43dfc1ee-74b0-41dd-8521-9dc78136d40e CLINVAR:120263 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ff558fff-2786-488d-93bf-2aa6e2324b8f CLINVAR:120263 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16036753-c2dc-442d-acef-127cc5f42c9e CLINVAR:120262 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ea47be69-7c0e-44d9-a646-40baa1806f7d CLINVAR:120262 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e193898-6769-44ea-99e6-ed1015799f37 CLINVAR:225375 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ecb48865-2bfb-422b-8527-937a26693623 CLINVAR:225375 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a10bdd1b-8568-48eb-8033-3c437d4bfbac CA16020976 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f4965cc4-c1b1-4d99-b7d8-124b3683244f CA16020976 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d54520d8-cf2a-4990-ae60-4b2ebb8e2d13 CLINVAR:102572 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6d4abbf2-ac1a-4c60-9594-c9fcb0982cc7 CLINVAR:102572 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f5c17b7-c6ac-4561-bf32-750f5d34c7c5 CA16020780 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e97d31d7-4cba-41b6-a17e-d8e0798d8be5 CA16020780 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc63a0df-11d2-4bc4-8e89-d740aa2de4d2 CA16020747 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 456a216d-026f-415c-af6f-210cf098f51a CA16020747 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b5c6848-b8f5-43ae-b3a6-0595a7d32679 CLINVAR:92738 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b9c8de9b-1fac-478c-84bf-3c06fde284b5 CLINVAR:92738 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06e30f8d-67ec-4ba6-96ca-db2f0e18b5b2 CLINVAR:102743 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6d855f3e-cb2d-41ee-9ce8-1a7b71f1aa10 CLINVAR:102743 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 129af523-6a6f-4e2e-b2cb-c0571ba361aa CLINVAR:102747 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 89fd9e11-b9ed-4849-91c2-591e6fa731fc CLINVAR:102747 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdaf5a9e-a657-475d-8d6b-b18fe892248c CLINVAR:102499 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f82ef4a7-1e86-4013-891a-f09bc95b1da7 CLINVAR:102499 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen babcf482-e5c4-4e5e-852c-478759fdc437 CA16020894 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 59ea2c1a-149e-4398-b668-165f3301e5b3 CA16020894 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1daa1a07-fdb5-4e9b-92eb-8c77eb46ca9c CA16020895 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fd89cad3-88cc-40d2-9bf7-e5e60e1b7896 CA16020895 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7ab798c-614e-4885-b6a3-25dc803bd897 CA16020967 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b37dbaa0-95f8-4b7d-a3d9-8775d011a586 CA16020967 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe2f9c19-097f-444c-917f-dcdb1bc315d8 CA16020808 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 14b11bed-00c2-4306-8a12-88c0a4f910be CA16020808 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c76241e7-74c3-4bbe-9c51-34f74910e150 CLINVAR:120276 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c687bec0-ad04-4b7b-bbfe-ed2ecde1ba83 CLINVAR:120276 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afb8e34a-8718-41ea-b826-300974085315 CLINVAR:102655 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 108297ab-c46e-412e-9024-8bcb3896e550 CLINVAR:102655 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7effbce0-fb41-4db8-9bde-0f75976eafc2 CLINVAR:102506 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05b8ffe6-4030-46b2-a93f-01d86f518825 CLINVAR:102506 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b52248cf-e272-4089-a4dd-a11e6fe82350 CA16020925 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d5de1c75-ad9d-4b04-98ef-2c5aa8b40efe CA16020925 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52718748-03e4-4528-b366-85d061dc03c1 CA16020903 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c6bacca0-0ce5-498c-85c0-9eddd7fd25d2 CA16020903 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 932f6b1e-b002-43c6-99fd-a1240caaa6fb CA16020911 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc305da5-ae48-48aa-939d-331947e34e59 CA16020911 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fde3bd8-3f9b-4fae-a49f-e2e89cb12c10 CLINVAR:102731 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 316e9e01-ed07-4f78-ab9c-591d36a0ae0f CLINVAR:102731 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d20136a-f176-4b8c-97b2-8938e560bc48 CLINVAR:102901 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 506ebc78-d3f2-4728-9ba7-9c613da66f00 CLINVAR:102901 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56e3cb80-e2ba-4543-8799-214ac14b787d CLINVAR:391813 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 213ebcb3-128e-429f-8ec1-0f7e4e76b720 CLINVAR:391813 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c24e0e30-455d-4fee-b605-1f85a3d6981b CLINVAR:40674 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 469e5276-d1ab-436c-b188-edf2ba6573b7 CLINVAR:40674 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5552bd8e-8c35-4a3a-814e-1c07ea00cb82 CLINVAR:180851 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f0fa8ea6-1c15-4994-8956-ae0910f19919 CLINVAR:180851 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7ad06d0-c943-48ae-8f09-5b1eed482074 CLINVAR:561622 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c2a594c3-8079-4e8c-a773-ef5790311e5d CLINVAR:561622 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af896cdf-88f4-41d2-872a-097017112d78 CLINVAR:179760 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd41f881-dc1c-423d-9a54-1dc65b43875a CLINVAR:179760 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3e4b8e2-bd46-436f-a5f5-2ffc405edc26 CLINVAR:45368 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1a831705-6646-4727-b112-f649d3483bb4 CLINVAR:45368 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdfb88d6-89d1-4e6b-a6b6-70444c7b1206 CLINVAR:48409 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 668c4381-c4e7-4815-835a-560a844ae1ab CLINVAR:48409 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cb26a4e-efa1-4f82-930c-5893e2fa849f CLINVAR:449490 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 51dda9b2-fe96-4a49-a615-08929a68c177 CLINVAR:449490 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd4e33fe-a469-41a5-8b75-43a37bbbbcf8 CLINVAR:178937 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f9d5d773-04b6-40b5-b936-eb57dafbf254 CLINVAR:178937 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9bc9f23-c82f-4098-bb5f-3c7f0fb5d545 CLINVAR:102504 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 84572a82-7bef-4bcc-9289-0dc31114b044 CLINVAR:102504 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f658177-9a05-4fc0-a37e-b5e2e4c7fe46 CA16020988 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 22580f1e-ba82-4f2a-aa49-476dfc290230 CA16020988 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 035978bf-dcf3-48d8-be74-6a7539dc5d57 CLINVAR:427615 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cd9ba566-ca6c-4031-acd3-0a5a31f03267 CLINVAR:427615 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8219c9a5-beea-402f-b68c-9375fa60216d CLINVAR:498538 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8d25ecca-eff6-44a9-b018-17f6669b0674 CLINVAR:498538 biolink:is_sequence_variant_of HGNC:11720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abc786a0-d624-43e2-a7a3-7fd037a858ea CLINVAR:561238 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c48ad825-56b5-4cea-8855-aaa96174cfc5 CLINVAR:561238 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c80e62a2-85a5-4634-967c-38614fcdefde CLINVAR:561254 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48435ab9-787b-4136-ac2e-1c1274d6c590 CLINVAR:561254 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14c4e829-fa81-4688-a680-2a7a60ecf90f CLINVAR:633606 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f64829e6-9e4a-4d44-82a1-169ed3e5dd02 CLINVAR:633606 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34249521-13b6-45e3-8510-40a6ab903a0d CLINVAR:12365 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0ae41d84-b9fd-44d1-9b3e-3bc22254206e CLINVAR:12365 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 032aa9eb-9fe2-49ef-a1b2-3d607eec71a5 CLINVAR:638853 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 53ae11c0-665d-4ee6-a330-6d7d2e46d7a3 CLINVAR:638853 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9393739-450e-481b-a3ac-86f23cd16cc8 CLINVAR:567576 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a2ddd427-6923-4432-9f05-3cafc385cca0 CLINVAR:567576 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0eadb9d-fec3-4da1-9aa4-4ef8059bfc95 CLINVAR:491536 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a864b547-70ad-4230-b17f-46855a409993 CLINVAR:491536 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9abe7faf-68c8-482f-8d2d-e886f58707a7 CLINVAR:406631 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 26dae7d1-984f-4a7c-9841-7ea7f38fd0a1 CLINVAR:406631 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0492ff5-d001-4da6-a25d-83e04878e175 CLINVAR:439045 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 51f1e41c-aba0-465b-8f93-1af58e7493e5 CLINVAR:439045 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b16b7f91-e5f0-4bed-bddd-2f80b6935263 CLINVAR:496817 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 32d9a031-e033-4369-9598-f77dbc6cada3 CLINVAR:496817 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d98b67f-9527-4bb2-9c12-e595f66c61e7 CLINVAR:622 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 785e1f58-e67d-4eae-90dd-8f5cdca6863f CLINVAR:622 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a39da51-b985-47a4-8cd6-0057fd565513 CLINVAR:102834 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f7973f3c-4e52-4cba-9cd8-c0399b60054c CLINVAR:102834 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f0fe721-b139-4bae-a7b7-ca81141b9cac CLINVAR:370074 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 592658c3-9564-4c25-b513-04701d47e510 CLINVAR:370074 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8299c3fe-f150-40b9-adb8-ce336550962a CLINVAR:555797 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 915bc910-ad3b-48e4-a8f4-f4de0090a736 CLINVAR:555797 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fe2cb20-6367-4a13-a88f-9915c76683a8 CA16020996 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 669b58ef-9983-47b7-abbe-d5766c0231ac CA16020996 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10100516-b0f5-49ff-a59a-73ae7d918088 CA16020997 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 49af74c5-3a27-4e39-9fba-fa6bee0411b0 CA16020997 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29685051-2920-45ac-842c-9ba368650d18 CA16020991 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 09c02420-d62d-4a14-b201-daa7f2690140 CA16020991 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8646255a-a303-44a5-ac9c-83a215d52d06 CLINVAR:578 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8940c0b3-c407-426c-972f-b18266345648 CLINVAR:578 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c290286d-3832-40c2-87dd-529b32bb82a9 CLINVAR:102609 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1ca4c45c-b959-4cb7-a4d8-874806da03bd CLINVAR:102609 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a63d89f-84a2-4d9d-afa8-81db9c575928 CLINVAR:102846 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cb5253a6-9fc0-4717-acd4-c75d62bc3bf0 CLINVAR:102846 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1e721c8-43ae-461f-9098-f181f066526a CLINVAR:805828 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ae5ab5b-5e66-41f5-92df-048ad6b62b8e CLINVAR:805828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40807daf-4691-4aa3-9fab-df79944b9e60 CLINVAR:188771 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9b0d60c2-5911-4fd1-87cc-8c699d83b452 CLINVAR:188771 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78e26d04-1810-4161-b271-027d447a7c45 CA16020909 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4f93364f-5b87-4f3f-8b93-9458430b8936 CA16020909 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85b1385f-a3b5-4067-928a-2e4f8ea9de5f CLINVAR:842394 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d133208d-5442-47d4-8cec-f94b03d64fde CLINVAR:842394 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65ab9b75-3f82-4aca-a8b6-52be1eb7720e CLINVAR:635216 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0a4b335a-818b-453e-804e-c30625f2898c CLINVAR:635216 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb334496-aa56-4a67-97b9-79d01e6b69ea CLINVAR:102642 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4ee02af1-a4ec-41d4-90cf-9f3c512a462a CLINVAR:102642 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea48221a-2908-4c62-add5-59e3bcdea24b CLINVAR:120298 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1464a6f9-fe98-4ac2-82d4-fbf22e7a79a5 CLINVAR:120298 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42fb7309-0a3c-4fe7-b989-15d84ec5e7b2 CA16020910 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8b53894c-2b1e-4cd0-ac05-c8c41d631233 CA16020910 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad597513-edd6-4ad3-9a59-c30699f0a50d CLINVAR:805827 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 44af1856-7d18-4700-bc8e-93518c1eb992 CLINVAR:805827 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1458176-bd21-4132-bf53-3679430df2c9 CLINVAR:102671 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 74098da3-24aa-42a0-a2d9-f7bf89a30681 CLINVAR:102671 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56570f14-f558-4e2d-8173-4da35721e767 CLINVAR:120272 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 77682d99-5f69-4fe1-9eb4-99077e8758ba CLINVAR:120272 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56b2a793-5bda-430a-9106-bb93996b4ed9 CLINVAR:372656 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c12e98fd-f115-40d1-8574-d8d6570f0675 CLINVAR:372656 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2050024-1c02-4762-a563-aa4f4f9995b0 CLINVAR:40681 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 77490fa1-e250-4cb7-886e-86bd197bce50 CLINVAR:40681 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13baa599-1fea-4351-aa25-2906018c5354 CLINVAR:12872 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aa93e0ed-97fd-442b-ae6a-a14b8a1b70a1 CLINVAR:12872 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d5c4579-24ff-4a97-b7e5-b6b8b3523cdb CLINVAR:40684 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6fce15ba-36ed-4b60-ae96-356c51cf459f CLINVAR:40684 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b443709-c1d9-4f96-a898-71f171be895b CLINVAR:40682 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 426c1a61-d4a3-4388-881c-3d60ee22a3fa CLINVAR:40682 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1046f36-56e2-410f-9774-b25cf1cbd6b2 CLINVAR:40683 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4efaebe6-6b7f-4a9f-99df-be3f9ec75239 CLINVAR:40683 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e5fc929-72fd-4960-b973-6ea45fbbee2d CLINVAR:189041 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9cd3eb9d-a6a8-4d73-a1cd-b7ea58ac3461 CLINVAR:189041 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdf15cb4-6169-4a50-90c0-fbe2af9e78b9 CLINVAR:167113 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 74e72efb-0602-4b1a-8acd-9693bea93298 CLINVAR:167113 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7bc4750-d41d-4832-9e07-af2d062952df CLINVAR:127823 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8567293c-087c-415a-aa50-7577bbdb0456 CLINVAR:127823 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90e0df94-4204-47f4-9f8c-d018b821f3b0 CLINVAR:230764 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7407edfb-e21f-4f04-ad33-e77dff4e97f9 CLINVAR:230764 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bffdfbfe-79cd-4b58-a3c5-ba9107a530ee CLINVAR:245851 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa034c3a-41e0-47b0-b0fc-b0045ade3d5b CLINVAR:245851 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b169032e-d0ac-4791-b38d-738a2a4eba60 CLINVAR:246429 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 57aeaabd-f77c-42e7-bfbf-5ea2155773a0 CLINVAR:246429 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d86da95-e252-4e68-966b-5e29437158f5 CLINVAR:376624 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 84549297-2ba5-4d58-b185-364e589e7694 CLINVAR:376624 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0bf5944-d29e-41a8-818a-fcee30973312 CA16020955 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 425b99a0-6fbd-4434-8eeb-804e25cf6487 CA16020955 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e4b9cd2-40e4-4916-8266-dabd90705c74 CLINVAR:4842 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 939042b6-415d-4994-9178-b425b0c11fbd CLINVAR:4842 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3697fb49-5a22-47e6-b10d-021d663da514 CLINVAR:102918 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 07c89024-90f8-4f30-8989-2588a0946a73 CLINVAR:102918 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da7aae8d-d7ff-4b77-8224-f62621dc0fab CLINVAR:102566 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f53b0bf-5fcf-412b-82ea-57bab110c3fb CLINVAR:102566 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e076268-401e-4a1f-ba63-581ebbb6b120 CA16020969 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen afb22266-18e1-4d35-b3cb-ae5ef359105d CA16020969 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0238e83d-ecfa-41e3-b019-3c3f81eee168 CA16020970 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7611884e-3c72-4152-b955-280f83a6ddae CA16020970 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb4eb810-f6f5-4829-a812-802d22a52e2a CLINVAR:102544 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0155052e-c5ca-4868-96ec-399282d08eda CLINVAR:102544 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58c02b21-2575-43c7-a9c3-6104677f6804 CLINVAR:141228 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 972e6376-31f7-4482-bf81-7438574b6ba4 CLINVAR:141228 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a025a6f4-3fb1-4142-834f-ab685eec1508 CLINVAR:141159 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 815dfe70-d9cb-4bfc-8415-1c19264d6961 CLINVAR:141159 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bc64ad1-1dc8-4ac1-9033-1214f7a9ec5b CLINVAR:102560 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9152c5b4-b602-44c9-96ce-227935fd446c CLINVAR:102560 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4175b719-4c26-49d1-8245-897be8cd20d0 CLINVAR:102550 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ca294d33-779f-4002-bc89-cdf02964a4ee CLINVAR:102550 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46660717-f349-465e-9c15-829cbfdbaacf CA16020788 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c9b51b7-e47f-4899-85a5-67a9bb0f5e51 CA16020788 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 227d215a-015b-4104-b22b-81a79fddaff2 CLINVAR:102714 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6e141e6d-29b2-4762-8074-cc5666232122 CLINVAR:102714 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9834b2f9-47ba-4186-be87-22c53881ec44 CA16020875 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c9a9cc9d-5199-4b99-a1d8-20abb490e147 CA16020875 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 123db48d-6f9f-4427-a3c0-39e7140db733 CLINVAR:574672 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 32ecc5eb-db69-4d84-9662-c7bd47c2b1bf CLINVAR:574672 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 884dada7-bec8-4d05-9e3e-e5202e89a63a CLINVAR:428622 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen df78bee9-a8f8-4e23-897d-996a7aa299c7 CLINVAR:428622 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d50814d7-d095-4b92-b3ce-796734eb3613 CLINVAR:265635 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6d4033a8-8222-4f2b-a905-b8f0b951f4d7 CLINVAR:265635 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 455450c0-a672-4d45-a199-063a47336be7 CLINVAR:439040 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3a7b3e01-1bde-42d5-9953-96214dbe2b10 CLINVAR:439040 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b58f03b-01ab-4343-905e-3fd747882d8a CLINVAR:428633 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 61ad10d1-7529-4524-ae41-cee93783fc94 CLINVAR:428633 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edf8df0f-2dd9-42e9-88ab-30de62270341 CLINVAR:491497 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 16581888-77c1-456b-9e39-5d1cce1c8876 CLINVAR:491497 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbcea342-c86b-489a-a560-321278ef27a3 CLINVAR:422539 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d9cde65b-86aa-4f9c-9550-9ec1b3e4e0c9 CLINVAR:422539 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9df9505-9d73-456c-a4fe-f25d793c04bf CLINVAR:449339 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 510f504a-26b5-4549-b25e-6425b170b2bf CLINVAR:449339 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8438fab7-40c0-4ddf-b316-a0fbf58fd9c2 CLINVAR:545756 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e4401b94-b8b1-4222-9cd5-c486b674258f CLINVAR:545756 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7d80815-70ee-4352-baf2-d7311a64a718 CLINVAR:234610 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0e6ea31f-443b-448d-b273-0a7e8390f02a CLINVAR:234610 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23192cce-9871-446c-b59c-75766c5fbf2d CLINVAR:532477 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 86cfcfa4-d0e3-4b76-a5bc-c1d46f19d582 CLINVAR:532477 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b478a1b-c770-41cf-ae48-ae485c70c95b CLINVAR:182376 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f79fc896-f97d-4acb-af46-9b64726dc987 CLINVAR:182376 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4709a17-baaf-4412-b758-0af122c2e38f CLINVAR:185252 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac9ecc1f-8b9e-4c5a-9328-128586d29dcd CLINVAR:185252 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e8237e7-41fb-43dd-b6c2-03c684f2247c CLINVAR:140781 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0d667e68-89e5-4352-b0ed-ead669d4a42c CLINVAR:140781 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77c99ec8-517c-4fa3-86e5-5bd8363c5cc4 CLINVAR:420613 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7f40145c-8360-48d6-a22f-7b4245adf8a5 CLINVAR:420613 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4675c5d-3f4f-4d70-8670-639d3ccf588b CLINVAR:532441 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b2506515-8863-436c-892e-be0fb1983758 CLINVAR:532441 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d5837df-cc6b-4ffb-b7f8-d30c3312e57a CLINVAR:406676 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2ec9a650-f9d2-47f1-98de-7af0ecb3a84b CLINVAR:406676 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 259dc63d-f705-471f-a387-585b284292e2 CLINVAR:428624 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3681ec68-cf8a-4835-8326-8446f6ba4b56 CLINVAR:428624 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfa313d2-aaa5-44e1-95bc-770946dc9bda CLINVAR:496818 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d197cd9f-f79f-4b88-9d01-0471bfeb3d44 CLINVAR:496818 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fdccaf4-ad53-420f-ae49-29098465fed0 CLINVAR:421050 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 01728cb7-6c69-478a-aa57-0c7ae5a326be CLINVAR:421050 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aea549c0-910d-4441-9fd4-a3852c535a1e CLINVAR:485476 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1602dd7e-4840-467e-83f2-645a68310ace CLINVAR:485476 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ab2a10d-9ffe-447c-98c3-75218b1acbc9 CLINVAR:234812 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c8ec91e9-36a6-4ba5-8a29-ec48f496b8e5 CLINVAR:234812 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02a1a2be-b3a2-4b29-8b6a-02ec2cbbe709 CLINVAR:230175 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ceea2b7d-5c9a-4715-ab0b-d57d6937f9e0 CLINVAR:230175 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dd91eb6-bd4f-4873-9b56-8f02e52a63c2 CLINVAR:488647 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0f7d140c-cdbd-4974-8d93-1329e2d802e4 CLINVAR:488647 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e894d59-645f-466f-8f44-b66460402019 CLINVAR:406615 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b0e61c3a-0155-40b5-9990-524351ff5b0f CLINVAR:406615 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ee3657a-c998-4941-aed3-508c8423d4fe CLINVAR:481173 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ec1cd22a-f3d5-411e-8f92-e74ad803f0b9 CLINVAR:481173 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 240e16c8-c56e-4747-abbd-941ea78f1846 CLINVAR:234904 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 55d97ee7-7bbe-4073-9709-d50b3eee62b0 CLINVAR:234904 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6587da3-9b68-4ed1-b425-9a41011597a7 CLINVAR:981224 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2e33cd6d-2c0a-4f88-99d3-a69875710a01 CLINVAR:981224 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f260c6b-576e-412d-8bb6-ac403b3eb957 CLINVAR:46076 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9eaeaaa8-af73-4dda-8e4c-fe4a8801c4e4 CLINVAR:46076 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e33b2c93-c28f-4f44-8f62-a88da79caa01 CLINVAR:102669 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8d41ba55-371c-4261-9d96-7ebc24fb3f10 CLINVAR:102669 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3539f72-74a1-49d0-a8f2-e8f13fb73f5d CLINVAR:554011 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 57c75175-c2c5-4aea-b8c3-f3d7c1ef0409 CLINVAR:554011 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcc495ee-01ca-413f-a5de-00491e4123e4 CLINVAR:102724 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 280cc0f8-5459-45e7-8fa9-1b4557ab4691 CLINVAR:102724 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d892b78d-0386-49da-89ce-03fd50f08018 CA386299637 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3e5cedf9-da9e-47bc-a292-c52f50fe7e41 CA386299637 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4ee86b3-602c-4509-87b5-fd67be3b3dcc CA386295265 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6d77cd09-0d4e-4b74-b741-838dc4245f13 CA386295265 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db83db3d-abbf-49ce-a5c4-230b39611acb CA1139532470 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 91410fb2-612b-4ca9-ab02-de810e4c20f5 CA1139532470 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73442f6d-cd29-4e33-87c6-0d882b99db99 CA16020841 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 73a2c41d-8079-4304-a98a-92f18a824cc8 CA16020841 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dc91941-65f2-45c6-a7ac-866c7bf3c4bf CA16020766 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d8ce8782-3f9d-4d39-965b-add495ba2e5a CA16020766 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef2ed2c0-19e3-46c0-8162-d7d5179d2514 CLINVAR:102733 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b6380c49-3b19-434e-8824-42cdbaaf5bd7 CLINVAR:102733 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 691ce12a-f777-47d3-8f71-46fcb5c14730 CA16020829 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 66ee80d4-5f0f-4118-8e12-689611092962 CA16020829 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 779582b7-f824-4f24-93bf-ae8b7eb60df5 CLINVAR:102556 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bca75ec2-eb0a-40e1-b44a-7e69b1ebc722 CLINVAR:102556 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f652e10-5b6d-428f-b9c0-0673b830ebde CA16020787 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8ab2d40d-e337-4c08-b552-9fba9fb1100a CA16020787 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2af7c57d-b066-41d7-b85a-1fc29a7bc8a3 CLINVAR:92730 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 35385ff3-91b8-4104-b9c5-13a9acbc6f89 CLINVAR:92730 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 666c2315-efb0-4224-81ac-fae84c3cccd7 CA386304277 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a18827ce-79ac-46c6-9fe9-1099115f31e3 CA386304277 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63f6246c-0f7b-4b70-b4c0-bd942646c753 CA386295865 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2118a6b4-94ca-4574-96cc-d054547f59cf CA386295865 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62e8a2db-d014-4076-a26c-47b06d80596d CA6748922 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc26de26-01d1-4b5e-acf3-9d5d4abfe877 CA6748922 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3f87da3-fe4d-445c-9a25-c7efc5035142 CA1139532533 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5cb8531f-8fed-4085-8faf-75b488d9a72f CA1139532533 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c7d79c8-23cd-4c2f-be77-3c3cda706445 CA16020961 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f4ee82c9-76fa-4b9e-81e3-b73c8c9f3458 CA16020961 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bbe73c8-152e-4e3b-a18d-27f48ff08695 CA1139532543 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b57532b-aa7d-4c96-b248-5966404df2d6 CA1139532543 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a11c8a1-7d02-438c-bddc-46a65aa059b2 CLINVAR:102541 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 34892069-800e-4574-9d68-370da756e20e CLINVAR:102541 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fafc707-fdff-4e86-bf4b-091058182ad9 CLINVAR:458082 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 50982341-d118-4a23-83f9-38d6ac10b34c CLINVAR:458082 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7663c742-4bed-4e33-9b10-765e114e4842 CA386304179 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3aaea48e-c956-45d3-bcaf-bf6821a2f05d CA386304179 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1490edb5-09c1-4cc3-a50e-efee7616892b CA1139532534 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a7f1e510-f5e0-460b-88bb-c5f94f3b614a CA1139532534 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb5e7c70-c075-49db-9296-7bf9bb153f43 CA481332664 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6184528f-e2d5-4600-96ef-960d91c2fb97 CA481332664 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11d35ba9-bc1f-40c6-97c0-b53a0daf0ec3 CA481333203 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 346bd3b9-a6c2-4ad8-8b92-d62f0172360e CA481333203 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6203e3b2-1b17-4c08-b540-23d77a2c0cc2 CLINVAR:571388 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b04b5c20-ab3f-4a95-80cc-ecc277310032 CLINVAR:571388 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a633aa8-ef93-4918-8d85-4aa84eb6718f CLINVAR:552279 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0be98f0f-8cf6-4fc7-a2c5-7c3f613dbe3b CLINVAR:552279 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9763fae-b8c7-40db-8457-346d963a7be9 CA1139532590 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aa7815a1-e752-4657-aab5-f7e07b05fd34 CA1139532590 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7448d94c-7a13-4077-ae89-9deab4b6dc53 CLINVAR:631 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 02d5c2d8-efd0-44ff-946d-0f690139ceca CLINVAR:631 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06f6fe20-e517-40e5-8e87-82feb6d7d7ff CLINVAR:555138 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 97bd94f0-8e3d-4106-b77b-421bf9e98372 CLINVAR:555138 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f1f72a6-e2b8-4550-bf12-de6db63fcb26 CLINVAR:102638 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bc0493b0-0d3a-400e-870e-f309a107b256 CLINVAR:102638 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a31dee3-0fed-43d9-8951-849a08632d62 CLINVAR:102756 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 43c69970-468a-48a7-950f-1b5902504f76 CLINVAR:102756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 873c2d87-f0d7-410f-8412-2330b6aa9406 CLINVAR:102800 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a9b0596c-f764-4878-8957-bc957924f3e0 CLINVAR:102800 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1018fcda-4146-4b1f-babe-fe89244bb3db CLINVAR:102796 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b24cdf74-7d38-47b8-be6f-fd3177f2f798 CLINVAR:102796 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9275fa2-c07e-4371-b145-6f915f3d79b7 CA16020786 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 17589688-ac15-4fa7-b2e6-83bdee5f19ee CA16020786 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 018e0235-52c5-4716-b6c1-a8dc34b5850e CLINVAR:551658 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 38269302-a60d-4cef-95f9-3372e30d3a9e CLINVAR:551658 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43674988-62fb-4665-941a-e5066d2789bd CA16020980 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b9c2268a-4558-460f-9fda-a193bd5182cb CA16020980 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a97db20-ef32-47b6-a49a-9204890bcb50 CLINVAR:102543 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7c4c5d36-3294-4997-960e-0398fca88ed4 CLINVAR:102543 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02bc4fc9-c95d-4d76-861b-5fa24374d11d CLINVAR:102542 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 48b21e3b-4a9d-407f-b81c-084935ea0983 CLINVAR:102542 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3dac201-046e-47af-84da-fe1d40491a43 CLINVAR:102530 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 63986191-b443-4007-b5d7-2d917d17e960 CLINVAR:102530 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e4500aa-c718-42ff-85c5-ac2760f1e6f2 CLINVAR:102621 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 10561fa7-7ae1-4f99-84e7-71e7979e6b1e CLINVAR:102621 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4debd4ab-b77d-4441-bc2f-a1d1dbdb15f3 CLINVAR:102489 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e4cb479b-70f5-4e29-93ea-1e08a4f1010b CLINVAR:102489 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f0438fc-d7a2-4b51-a867-ff2ac8f30768 CLINVAR:102734 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e61950d8-eecf-4532-a320-aa06affae68a CLINVAR:102734 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 431021b4-04e5-4e64-b777-dde4d3d21e5a CA16020815 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8793c770-5aba-48ac-a63d-7fd6f6d0db93 CA16020815 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a27b135-c6b1-4ec7-8670-e600d359fb91 CLINVAR:102741 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5474423a-79d7-4f8a-91c6-e354bda0f31d CLINVAR:102741 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ae20edf-1853-4a79-93bb-e8683193de8b CA16020821 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6c182f17-7a49-4451-aff1-abf881ba5ce7 CA16020821 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0880252b-b966-4e83-b753-9df37ccfa32c CLINVAR:102769 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a1ff30da-d3f4-418d-a485-68f7f229e637 CLINVAR:102769 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67a20ee5-f0b1-4fb0-9e04-8f60b305cd32 CA16020838 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 42f3b6b3-e249-4c38-9b04-b8ff4e6126f7 CA16020838 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0432b676-73ba-48d0-b363-4250c1a2944a CLINVAR:4929 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5a5057c-d5bf-4c98-8f73-781db11e55f7 CLINVAR:4929 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 930630fe-89b2-441b-99ab-bc5c655165ad CLINVAR:43230 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a0d3b3c0-68c4-4907-bcf4-3dfaa7197c59 CLINVAR:43230 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cef67ba-8767-4c5c-a18f-17d95a88539d CA401359799 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 413fe5d2-3d82-4036-9f71-9ea7b1751ddb CA401359799 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57f2d17f-7f68-4d01-8aae-80cc6d324597 CLINVAR:984802 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 903c2246-5eac-4359-891f-279f986e7245 CLINVAR:984802 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baf30023-e8ce-4788-a5f1-82c028648fa1 CA658795253 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 730f81aa-2067-4f5b-af79-d02e46c2f318 CA658795253 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2bfdee5-33a1-4bac-9978-20f80e25b846 CLINVAR:557360 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bead2672-62ab-4062-95e6-a8e632be5882 CLINVAR:557360 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc3a1bce-8dc3-44f6-aa11-7c247df9ee68 CA502179100 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 771cc829-3ed3-433c-b34b-27d48df3ac8f CA502179100 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 029fb7aa-4ca5-427f-803d-d763670a833b CLINVAR:371302 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9cb5e7a5-9bd7-408b-b7d2-3100e26e0565 CLINVAR:371302 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7957c11b-7080-4b45-a92e-25b20b4d556a CA401363371 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 48ba1f66-d451-4178-b347-182dc3963bf6 CA401363371 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12f37259-800f-4334-8745-51fc61e89999 CA401366177 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cdb54ff5-65e5-4aa1-8e68-ee548f226fdd CA401366177 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20beb0a9-805b-431e-a5d1-d88a78ea6961 CLINVAR:552839 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ee805dc-bb07-4f71-acf6-a454aa903a47 CLINVAR:552839 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 269bdb5d-b016-4551-8ea7-82d5876625b2 CLINVAR:423925 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d08128ce-bd08-4911-a885-2a9decdf4ade CLINVAR:423925 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44a2eb00-b2ae-4104-b5eb-59fca89ab4a9 CLINVAR:370241 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 170098e8-276c-4983-9b8b-2785db10e1e1 CLINVAR:370241 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2944bba9-da4d-48cc-a541-b74e4c1dc7dc CLINVAR:456415 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 92ff4db7-ee5a-4cd9-ae81-6029f4f3a2b6 CLINVAR:456415 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1f7adb8-aa30-461b-99bb-b747ddb85c29 CLINVAR:555040 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 40ef2bde-2a85-4c80-b10f-2330e454d123 CLINVAR:555040 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f915d3b9-ee52-4b2d-a273-998c2cc532b9 CLINVAR:370458 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6d477b89-14d8-49d6-adfa-4bf05594bbed CLINVAR:370458 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f828353-77d9-415c-be7a-66581f30b3af CLINVAR:526523 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0d96a215-19f8-494a-9896-f17e3c4d8676 CLINVAR:526523 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6802f133-a7c1-4416-8230-256920bbb066 CLINVAR:371580 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3050aa6f-106a-4d04-aab4-69107b030989 CLINVAR:371580 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d561625-3131-47d6-9318-4baefa5eef97 CLINVAR:551530 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7d9ec00c-8faa-4408-82c6-7c3e5b86d6b0 CLINVAR:551530 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a16c290a-9b58-4a00-9492-0dda69844f54 CLINVAR:371501 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 755d48de-e1fc-45e1-98e8-d1c8695d6a5a CLINVAR:371501 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae402541-dbad-4be9-a535-5a1acc8e092b CLINVAR:596146 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5a03104e-5cbf-4049-a53b-0664ef0adff7 CLINVAR:596146 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a2daded-7d36-4fac-bf45-d3e80e0b2755 CLINVAR:189057 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 22f5da56-c988-48ba-a5a6-f256daac3bf7 CLINVAR:189057 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbd49f9a-2e18-4acc-828a-e8748359b660 CLINVAR:553981 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ffbd3c79-d2dc-4ef5-a135-e4c27e9ee58c CLINVAR:553981 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa02f970-8ad9-43fc-9247-87637c2e3cce CLINVAR:550104 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8bf0749c-0400-4a7e-b410-a815f845272c CLINVAR:550104 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5289f11c-1d62-4a21-8e80-ede6e6d33e2f CLINVAR:188880 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b1286118-422c-4636-a763-f582d72eb3dc CLINVAR:188880 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79089899-d989-4e96-abd5-60f11ee6a20d CLINVAR:556534 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2c918671-ae12-4840-98aa-158f7ea187e4 CLINVAR:556534 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28634105-7b33-429b-8409-1f5cd3132d92 CLINVAR:656144 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9b6f6bf0-42e5-46dd-8aa9-4e39e51aa0fe CLINVAR:656144 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen decc2452-8138-4c73-bbaa-d9bf0856ef2f CLINVAR:282254 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1a40d833-c29e-4b9a-ab95-5fb1966fbad8 CLINVAR:282254 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3167976e-8055-4987-b704-1b4b65e942c4 CLINVAR:597147 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a8a2d809-a79d-40b6-8384-be3fe6ec5214 CLINVAR:597147 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99bd2f70-1e39-4fb7-8fc2-d6e0c756d4f9 CLINVAR:370810 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d07a2d40-e208-4afd-9746-5e3d7449d7bc CLINVAR:370810 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5f12aa8-08b6-4a92-aca7-0c05d7595074 CLINVAR:497032 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b31c7815-770a-4472-b4a0-9275488d9fbe CLINVAR:497032 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3df167b-28b8-412e-a98f-18c1ef94deb7 CLINVAR:370263 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cb5329cd-c82b-4333-a02f-3fc56eb6cbb5 CLINVAR:370263 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a09ec1cc-f36e-458b-9985-bfba13a4c8aa CLINVAR:501294 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cdd878a5-6822-45ac-9afb-9b28709a1fe6 CLINVAR:501294 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b96534d-f10b-448b-b6bd-35cc60375ab6 CLINVAR:4033 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5bf16b1b-27f3-4a03-b202-b349fe964854 CLINVAR:4033 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b50d204-a870-414d-9f1c-9b4896e2fb46 CLINVAR:370510 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8275705c-9f8c-4dbe-b73e-8b534641962d CLINVAR:370510 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93076e46-9662-4c19-a857-8811855de68b CLINVAR:371457 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4c2060c5-3809-4051-8a44-eeb301f045a8 CLINVAR:371457 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 378aa31f-eac3-43b1-86a6-bcaef5cea64a CLINVAR:552165 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3500074f-6675-4081-bd1d-6ed6cf62e5ef CLINVAR:552165 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a45bd407-483b-42dc-b705-c0d621c4a1d4 CLINVAR:420101 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eceeac46-37c2-4725-ae4d-052b3f488c6c CLINVAR:420101 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d839f0b-8719-479c-a88d-3f4104ab0196 CLINVAR:556959 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 22b557fc-e569-490c-aeb6-c8c598e641c9 CLINVAR:556959 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6dd39ab-25fd-42f9-87b3-7ffbe0d6d568 CLINVAR:370223 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2c6664f2-f665-4397-af60-3f335a9d69bd CLINVAR:370223 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4aa07a1c-eae9-42c9-bd19-ebc8049409d8 CLINVAR:556853 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 63869e19-5e64-44cc-895f-b481073b05e1 CLINVAR:556853 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00e7ffdc-30f7-43a6-995f-3d0d4a1e4714 CLINVAR:188874 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c974d080-f867-4d8f-ad0e-0e9098ad1e92 CLINVAR:188874 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44944365-3792-4adf-bb4a-34ce2472a37e CLINVAR:694453 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3e8efe1c-934d-4791-b996-415228bdffdc CLINVAR:694453 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5b367d2-2024-4b8d-a2af-591e54651bb6 CLINVAR:371433 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen feb04bcc-c155-481f-8d45-47f327cf8d03 CLINVAR:371433 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b637a0e-41dc-47c5-9d90-24fc8deddb24 CLINVAR:520974 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f3df99ef-fb38-48d0-ac39-c5572bf1b883 CLINVAR:520974 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11390172-9f7a-4a3a-a249-5892bc6ee04a CLINVAR:370866 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 576f5b7d-2007-440a-b2da-2d11cdde38b2 CLINVAR:370866 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 581b924e-1633-4e79-b292-827797de6bef CLINVAR:693996 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aa90f2cd-26dd-4dfd-a2ba-800d5cee2288 CLINVAR:693996 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 767f7ef3-57be-4d4e-918f-d3c620a1cf65 CLINVAR:632822 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 856f80e4-4f69-4a54-b5ff-adf29a9ec7fb CLINVAR:632822 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46aa5a9e-b586-4579-ac23-5ff81347dce4 CLINVAR:633225 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba3563d0-673a-42e2-91e0-734983835a09 CLINVAR:633225 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5af9f401-d965-43cf-828b-1a81a4397099 CLINVAR:423932 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bba495f4-836f-4ab9-9e43-1a6a3e033b07 CLINVAR:423932 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1968a4f-785f-49c1-ac11-5887ff9fcedb CLINVAR:802700 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e901ebf4-c45d-4dd6-87c0-b205510aa704 CLINVAR:802700 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54b3bce6-7300-4b84-8bb6-a5a811603279 CLINVAR:179260 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 004fe903-32d5-4435-bf5b-1e5845e4588b CLINVAR:179260 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 475ad13a-291a-4705-ae12-06cf50833156 CA1139533052 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cc2be11e-7a25-4fc3-bf80-2af0746b0918 CA1139533052 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98c544b6-d369-4ace-b3b9-6955af05cd43 CLINVAR:561252 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 98d39e8c-6948-4b63-9e1f-607e72689758 CLINVAR:561252 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d25468e3-30f6-4151-a460-8c6bf3778349 CLINVAR:561236 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 29833acf-b447-476d-a76e-2e6db4ff871c CLINVAR:561236 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac7aaf33-6614-4ab1-aa7f-e0d2ac9bb372 CLINVAR:561256 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 861c36b9-d37e-45bd-8f9e-c0601fced662 CLINVAR:561256 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aba248d8-5d63-41d8-9bda-48f542f7f92b CLINVAR:561248 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c031f5fb-356c-4dfc-8907-56be114c27e6 CLINVAR:561248 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e9c67d3-3082-4a2d-a462-d37b49d228f4 CLINVAR:575051 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 19195608-569d-4be9-947f-af55fbba6e2c CLINVAR:575051 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 517990b5-da3c-4e6c-a3a3-3408ecd58597 CLINVAR:561223 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen be3af97c-890f-4d58-b762-1ffcbddcf382 CLINVAR:561223 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1c06cff-dec0-4481-bca4-3cf285639207 CLINVAR:376021 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a4030cc4-d03b-4f16-9594-ebf6f8b70251 CLINVAR:376021 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e4afc9b-8ed1-4535-9384-3cd3d530a5b7 CLINVAR:464006 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 752f4ae8-c513-42cf-8cd5-01695ff420dd CLINVAR:464006 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 130398db-308e-4a84-9157-8e07edc768d9 CLINVAR:561229 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d142a460-3978-4139-9c10-eb8c4bd90b39 CLINVAR:561229 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 049c9af3-1fe8-4061-9aec-80ece11810ef CLINVAR:561226 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dbade001-787e-44ca-ba1f-9cc65476776d CLINVAR:561226 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66daf471-3951-4097-8836-a79e694041e0 CLINVAR:561224 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6e9bea7e-7390-4a86-902b-7fbe815b61a0 CLINVAR:561224 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5289de54-db26-494b-8b69-30b1a8b38b45 CLINVAR:376022 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fd6efe40-83b5-4f5d-ac0b-2cc1ca475342 CLINVAR:376022 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a007bb9-5885-4170-ae58-d35685b7d59b CLINVAR:376019 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ddbec7aa-d465-450a-825f-38119ad62a12 CLINVAR:376019 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bd23d49-b682-4bed-a1fe-424961ef1d62 CLINVAR:376020 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c34331a0-44b3-44c0-ad23-ab57190d37c6 CLINVAR:376020 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcc1e201-c9dc-4449-9f58-78be934e380c CLINVAR:561244 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1c4b641c-e248-4d31-89db-85ed9276077c CLINVAR:561244 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b04433af-2535-4d0e-a6ee-7343795050e6 CA16020802 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f884a48f-4e13-402d-af66-e93f44f6f48d CA16020802 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8c7518a-a36c-4b59-810f-123f776f5c5b CA386296833 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen edda8db5-799e-448c-a47b-a35eb7eaf090 CA386296833 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc9713cc-9d0b-49b0-af8a-14391eb897e2 CA16021000 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6febab33-89c8-4bf5-9f09-acb754e756eb CA16021000 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 712a06b3-eb75-49b1-b439-6d58d728d707 CA16020849 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ad771a34-9e6a-478f-bc3b-39fbd2ab09d3 CA16020849 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a58bb30-f1b1-4e2a-8231-bc96f06253df CA16020989 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5a2410a7-f2bc-463c-b68a-ee0197977f82 CA16020989 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 183ce81e-2f1f-40be-80e5-2d35686cecca CA16020933 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0f470012-34ec-497f-910c-44e47fb928ee CA16020933 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa684fe4-6b5c-4a47-82ae-8033ad126a1b CA386299729 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d05d2b08-0b80-4524-b59a-af5e7594cb5b CA386299729 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dd63d47-f9c7-4c19-9420-a0a04a2b0ecb CA386294521 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 080ac118-86b1-4d45-829b-c968e94938e7 CA386294521 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d415ebc-9259-4b33-ac81-a87521624a8a CLINVAR:225134 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2e717b37-f937-430b-9f96-29494d186720 CLINVAR:225134 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c2f1345-78b7-4c5e-a6d5-8f1cc9c65b56 CA386296582 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cf35bbfa-cdce-4e36-90b1-599f5de7bd1c CA386296582 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d278103c-9a19-404d-9609-4e793183cbda CA386296575 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b208e90f-764a-4bc7-9bc4-470ab45b4ae9 CA386296575 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80e365b5-5e44-4620-afe3-e9ee1655fc4a CA378924686 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e190f66-f37f-464e-bd37-2a4085065308 CA378924686 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5e52fde-2677-479c-986c-a4e7f91964a4 CA399806384 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8a618b1a-fa1e-4baf-8850-08db952c36b2 CA399806384 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24c8aa4b-e25b-4566-b033-f1af8b4707b3 CA291224483 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 72d0a5e4-b854-4ffb-b18f-0052dd9547ae CA291224483 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82b236a8-1036-49db-b67c-3c12b1d3b4c5 CLINVAR:323867 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8aee255e-a832-4d6a-a29e-3d7b49fd583b CLINVAR:323867 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 226804fd-9094-4e06-a45a-49a269c69a6a CLINVAR:631775 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c451fa29-c93e-4ef3-a89c-f37a38c5a082 CLINVAR:631775 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7e1cad4-7b49-41d0-8342-f017b13374a2 CLINVAR:953020 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b57d4487-9cda-4342-b32b-1d06a0c2933d CLINVAR:953020 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5816c4b4-0b8d-4d95-91a5-7cf7449078bf CLINVAR:953022 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b332bb2-e1bf-497d-bbd5-b1a1182ff380 CLINVAR:953022 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f535bb2b-2621-4715-b40f-abe35a6fcf10 CLINVAR:426669 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2fa23607-3deb-4d01-bd64-57ceb0121150 CLINVAR:426669 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c20dc6ad-2a1c-47fc-ac3f-f9ec3fa1a84a CLINVAR:953003 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2dd62ea3-1efb-4980-8954-ed249fabde5d CLINVAR:953003 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc43843d-09f9-4549-b212-9b5fd72814ce CLINVAR:417956 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc6b346a-52a2-4e73-b8da-97778bf81f09 CLINVAR:417956 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4aaff000-3e45-44ae-889b-3527c8a26316 CA626684864 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0e65be0d-5947-4ab8-9855-f52b6d6d9174 CA626684864 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75bb45d8-bdfb-4150-866e-8688ec6d915d CA8623155 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f6642460-40cb-4e0f-9e13-8393f396b980 CA8623155 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f0d843e-69ff-42e8-8e44-bd24a8b846d2 CLINVAR:695458 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 27833961-745f-42df-b3d6-03010164310d CLINVAR:695458 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88f51fd6-25cf-4f73-9b6a-a8ed22860d0e CLINVAR:323870 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c75c1083-7c18-45f0-a294-40f2c9e24bd5 CLINVAR:323870 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b168469-abe8-46e2-a2d7-26ee100d0998 CA8602626 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a56f691d-fb69-4e8f-9ef6-a48a1a599ccf CA8602626 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a2de479-46ff-4fff-822b-6bbf79b703fc CLINVAR:2901 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b4344d26-a5ff-46a3-be86-4c049db5ad55 CLINVAR:2901 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6a404cc-6d34-4fb6-9938-eff98bca1806 CLINVAR:225393 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e4392ea-1147-444a-a45a-505c07e73b55 CLINVAR:225393 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2c4a2fe-e3fc-4ab8-a5b2-87536c20b737 CLINVAR:953015 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 749eddb6-a43f-4184-9b90-f01d865186b9 CLINVAR:953015 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b0941db-0f88-4354-9347-b63f0c3f212f CA913189226 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 17d14a48-227e-460d-ae40-46b0931c1f8d CA913189226 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3797d9c-cb65-4f07-805e-c838b06eb789 CLINVAR:2892 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 585134b2-7339-4d2f-8394-ebc3414ca789 CLINVAR:2892 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ea8249f-7e69-4c47-aeba-8ccd37fdcb7e CLINVAR:953024 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8a0f47c8-407a-4bf5-a023-30863cb5c3ec CLINVAR:953024 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0c1caae-6b27-4792-bd3c-a107b57bf17a CA8623377 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 922eda96-6a8e-4cad-9e37-fe53708b86ae CA8623377 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 154348b3-ed54-4baf-ac14-cb946a146571 CLINVAR:953047 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2ad4875d-f6e9-4d75-8b88-8fb2d170fd46 CLINVAR:953047 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54245e0a-6806-4ed6-8c26-28e9c0513954 CA399805421 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5037afc4-ae0a-4321-b4c9-2c20a3357619 CA399805421 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 592640c3-e22d-49c9-a16e-568d19460444 CA399805793 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d5652fe8-5354-4807-a4c4-282bd3661b2d CA399805793 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14dee07c-1cff-43c6-9d1a-730c268bfad2 CA913184940 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 88fd1dde-84dc-4fbb-aa0f-74fd21f85f59 CA913184940 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a91f03b3-9852-4070-a82b-8c826d7c53c6 CA399802411 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e6fd9bb8-22c8-4d62-a67e-9582477ba8d6 CA399802411 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0306a981-da81-4578-a36f-4ce81a5e4317 CLINVAR:952999 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fb98f32f-f6fd-4958-aec0-68c799b0e3d0 CLINVAR:952999 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f48d9dc7-dcc9-4baf-adc1-45db5678dfcf CA658820875 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e1a31930-e14e-4675-8dbb-fab58b7cd342 CA658820875 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5350d062-25ed-4442-b5f1-6291dd06fac8 CLINVAR:627066 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dcce238c-aa56-4481-a7d7-ffe44a756663 CLINVAR:627066 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c981570-391b-47ad-8266-c389846f7d95 CA400031666 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f6fb5c49-6c77-41bf-800a-ded68ead4f81 CA400031666 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 369ac47c-3b0e-4eb1-a523-6a42ccbed0f1 CLINVAR:13554 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ccf37025-c5fe-4619-8ae9-3bd8e41f1969 CLINVAR:13554 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2f7fa7e-8fa9-409f-ae69-3196b8eb74b1 CA290950376 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2f82c712-425c-45bd-bfbc-85b86d4e1dd2 CA290950376 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ff20dc3-b688-4077-8343-458b30868898 CA399801310 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 65a73f30-f89a-493c-b4b9-cde990131b16 CA399801310 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04cfea43-574f-4705-a9f9-7f64ddd28c21 CA399805557 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dea8f6f2-f6c2-4c33-8ff9-ba736a579dbc CA399805557 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c0c33a0-d295-4471-a9b0-e3a1cf345bc0 CA8602528 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 875a1ec8-9e4f-4d32-9eb9-7ed671680889 CA8602528 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b5bada4-302e-4b86-bd6c-1bc09e8522e5 CLINVAR:953027 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b1d138b-2f6b-420b-a14a-b6cb8a6dc18f CLINVAR:953027 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd8ae07f-a6c2-4dbf-9f52-b48da27c9fff CA8623443 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0786b490-4cfd-4d36-9160-a76bcc66567e CA8623443 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21d4df67-3573-49ce-ace1-3ff7cef4b75d CA399804619 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 32116f53-edcf-4f0b-9270-ad4fefb69f39 CA399804619 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea70738c-6fa5-4f7a-96f9-896e93dee25e CA8623358 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen db07e9bd-a3fa-4013-ad53-104e1d64485b CA8623358 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 870da476-0873-4141-bd83-6f8bb846c123 CA400028478 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cdb10348-69db-400f-9a7b-eb23593e20fa CA400028478 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cd3c300-be43-4bb7-b790-a90aba3be492 CLINVAR:953040 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 86f1d711-6397-4f25-ae79-2afeee1cd7f1 CLINVAR:953040 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23bc33b3-1814-47b5-a794-fcfe58f8c861 CLINVAR:812736 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cbabc7a0-56fb-470a-b3be-49634e09637d CLINVAR:812736 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 181301b8-f0bb-4820-b522-e9392a7ba3da CA915940285 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac1a0fe0-d109-491d-b240-fb3544405515 CA915940285 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea21a923-0430-4dbe-bed7-2f1542189197 CLINVAR:953053 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c4e385fe-e6b3-472e-a7ca-d8e77f1649a7 CLINVAR:953053 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 430609b6-de1a-4eb3-88df-5158213c610f CLINVAR:953007 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ddaed4d6-3555-4fcb-8491-62e4c7c5cf5e CLINVAR:953007 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c33ded9-e60f-4b69-9ba6-6b7e79751f0c CLINVAR:952996 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 30d1fde5-efae-49c1-9fd4-c2082f8a9e2d CLINVAR:952996 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21e057ca-d6b8-4556-b554-e5cba1c2a9b2 CLINVAR:2900 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7bedee57-6d19-4659-aa29-dfb773fc9b38 CLINVAR:569057 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d2d6f1aa-a4aa-4642-9ed1-ea5b173d3688 CLINVAR:569057 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afdc684a-81d9-4326-b63c-8d4689b018f3 CLINVAR:953008 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4a72764b-fe1b-47a0-bf02-7833cad399ac CLINVAR:953008 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b9c20f0-9b31-4eb1-8e9b-d7cae921a375 CLINVAR:381747 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4d2d02fb-a583-452a-bf0a-8196acf7a71e CLINVAR:381747 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a372e6a7-4c28-4ebc-ba3d-1c93b1ef2f2a CA399802424 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d5fad85a-63b7-4f3d-a157-42a51ef6a16b CA399802424 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3626e60f-d574-4b86-b4f9-20e4d019e4ca CA913189170 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 505108f4-3fed-4cc8-9c75-c23ffc784819 CA913189170 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0061c270-03fd-4a01-93bf-9d1e34d6fd24 CLINVAR:953004 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 33fde439-4d4e-4228-8102-59f049958e68 CLINVAR:953004 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a068ef56-5e81-48c2-ad55-e9b698721111 CA913184943 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 888358bc-328d-45d7-841f-537fedc08374 CA913184943 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a28cbcc-c680-4e76-b017-4d0cb3647eb7 CLINVAR:953005 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 42e3b6ea-9887-4613-ab32-40d7f49d3214 CLINVAR:953005 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b92b8803-6ccd-49ff-be96-b45a573bb849 CA8603457 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1f4ccbc2-d5e1-402d-9702-d33d8c0177c7 CA8603457 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50b2f9d8-1dfa-4061-ae4a-b5c2a540c3e0 CLINVAR:631774 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 53e03cf4-a786-454d-ae18-0ddf873d58ee CLINVAR:631774 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0ea19c3-8fcb-4913-a442-0200223ae13e CLINVAR:953061 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a9c8efbd-4bcd-4561-8d23-65cd522ce167 CLINVAR:953061 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d526e2da-30f8-4e58-a60b-064f607c30b7 CA8622899 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8e211122-d586-45fe-96dc-7a3ba7291dd8 CA8622899 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36516539-517d-467a-a334-2db99f0bac7a CA400033055 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c79e85d6-9745-4c7f-b976-65890c291054 CA400033055 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bed2d1bb-8a80-4596-a076-6db09bcea3d6 CLINVAR:953010 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c8adf54b-9b1d-4a66-9ba5-30c9cd8e32d8 CLINVAR:953010 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd9cc865-5dac-47c9-bd3a-339b8a224d36 CLINVAR:953029 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0f01a428-e5f3-489e-ae73-f6ceeaf0258f CLINVAR:953029 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8a8706b-67d7-4ef7-99d0-80c4799ec949 CLINVAR:953018 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d2b75d63-fc76-416c-aa51-61a37b9e3e33 CLINVAR:953018 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a27f52c4-0616-43d5-80df-915c7511ee4e CLINVAR:996156 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen caed4d26-fc5e-4955-826d-4cfcd0205639 CLINVAR:996156 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c17f978e-4906-4fe3-8f7c-265d619270fc CLINVAR:2895 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 554c04ce-501f-478c-9794-44582fd4842b CLINVAR:2895 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c87b992-b5cc-4b8f-9bbf-e193baad7e63 CLINVAR:996168 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2fdb99e7-b7cf-4029-819b-8e22ae40a592 CLINVAR:996168 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f23795b-15a3-4113-88c8-890cbe56b3e4 CLINVAR:996169 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 63c07b60-edf6-4860-b341-0d27ac827a38 CLINVAR:996169 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8e462a3-8fff-4c83-90d0-87e405b9ec2e CLINVAR:996170 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0bc96fbb-26a2-46aa-88a6-ff05b606b453 CLINVAR:996170 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5c8d9e3-b4f7-40b2-ac15-c55cd7b01b75 CLINVAR:996171 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 63cdcd13-77d8-49a7-afa7-517d4f955a2b CLINVAR:996171 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c14c301c-a506-471d-af00-1b631bc58ded CLINVAR:996184 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dcc1fbcd-eec0-4a01-b6ca-9d540b61eaed CLINVAR:996184 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3964cfc2-1596-4e9a-9b39-d257be5ff314 CLINVAR:635 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 61056405-981c-4296-b5b8-7aa8d2567d24 CLINVAR:635 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 202efee1-b0a1-4028-ba16-bd58aa295098 CLINVAR:638 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen df05f2c0-c0c8-44ad-bb18-adf68dd1b3d7 CLINVAR:638 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 016520ce-6935-4f28-b509-8cee13c2ff18 CLINVAR:928885 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec87a69b-4370-4afe-9e57-6ff01c39b1f9 CLINVAR:928885 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 673863a1-749d-4f82-b5ae-d8869310cd07 CLINVAR:552657 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1cc05983-1805-4d8d-9ece-3b45209d817c CLINVAR:552657 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2b88d61-610f-49cd-81b3-2be7d8579ed3 CLINVAR:551103 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5c4a7357-10af-431d-bc31-3e9b4082c213 CLINVAR:551103 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c85ded94-99db-4e53-812e-21fd258c787e CLINVAR:102602 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f7467edc-3471-43dd-9048-eb98f2b65152 CLINVAR:102602 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ef571a1-1aa4-4929-a210-7ac05d580d3a CLINVAR:996175 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 385ad04b-c992-4772-90ad-09155c13ba6c CLINVAR:996175 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a00438f-dfa5-4378-b722-be1784c45e05 CLINVAR:627218 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bb9e4e42-829d-418b-b40c-a09b2f93032b CLINVAR:627218 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 967903b9-0c43-4c9c-a70d-df1fbf6dfee8 CA8623029 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 947ae884-a7c8-41e9-b9c7-26dd7f606b1a CA8623029 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ce68b71-645b-4666-b6b7-433886ff46c3 CLINVAR:996159 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 21c1cc54-a173-4a00-83d3-176d9b82e059 CLINVAR:996159 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5bce16e-48f4-4a2c-8abe-6770d436960f CLINVAR:996165 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e5fcc3f9-59ad-4925-8b84-8d1b3b0fbd50 CLINVAR:996165 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06b02349-9126-4f88-b255-7bd515b262f5 CA290949843 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2a6518ff-c55b-4ab0-98e1-8e7b8968164d CA290949843 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 654a952c-14aa-495e-9630-d6118c30440a CLINVAR:2893 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 65d24c06-621c-4468-9e46-bea49eed3a5b CLINVAR:2893 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa65697f-f3ee-40ad-9184-cb17fbcce09e CLINVAR:996176 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ca99c625-8888-484e-a711-d9c2c88ee5f0 CLINVAR:996176 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19bdd48c-1499-4acb-a630-422dd598994d CLINVAR:996180 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f6b1ad34-baf5-4506-849c-f79ff778441f CLINVAR:996180 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a97271c-8f7c-4f89-9cd1-29fc939a95b6 CLINVAR:996172 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 54eee181-9019-44ed-9143-7c13567588a8 CLINVAR:996172 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e941306e-8b6a-4d86-950c-1935d58e6f93 CLINVAR:996161 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ec36c11e-8bb6-4e14-87da-cc0ba509e912 CLINVAR:996161 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26f13e3c-a860-4de9-9848-313c7ea9fb73 CA290946532 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ffcdc63b-5229-4168-9088-3f557aee40b6 CA290946532 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aefae8a-aa97-4af5-b487-ccce553884d9 CLINVAR:627131 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 22980ec3-cc82-414e-9b91-74d9304c4534 CLINVAR:627131 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd787e59-94b0-4683-878c-a28a75d0b071 CLINVAR:996207 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1a53a88d-c9b5-4b08-ad83-2f2278a63f70 CLINVAR:996207 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b73ca1f-34c6-433a-a000-55cabdc73348 CLINVAR:812735 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 40bfcd78-21fe-469a-9efe-b3f6749a6676 CLINVAR:812735 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fabb6c01-c4bc-49d9-8096-b539d26f936f CLINVAR:323868 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 84d024e8-023e-4e93-bc36-8277dff237f4 CLINVAR:323868 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f79b67b4-eb05-4a17-8f74-148a3a5d687b CLINVAR:996177 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7948025c-be31-4ca6-b7e7-7134fa724c86 CLINVAR:996177 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0d860fd-521d-436c-9606-ef054bc54f90 CLINVAR:50233 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen be0aece5-ad28-4429-82de-8907e41fc607 CLINVAR:50233 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4077051a-2715-42e6-9f03-adde87113138 CA399798321 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0db3ab03-e344-48f8-9e67-5feeb471fbc8 CA399798321 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 002a9e8b-f93a-4f05-8f9b-8bdd7f76345c CA400032726 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 18e8102f-5778-4d30-a754-e8cbbb290070 CA400032726 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d04df369-630a-4f92-bbe4-5469d1ed6fc8 CLINVAR:996187 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f0bf4814-ef28-4186-a03c-0ad926092dc1 CLINVAR:996187 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 328f3362-e493-47b0-8565-c5a1f9bdbadf CLINVAR:953045 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f349c87b-3dc7-402a-8b54-78ee1f3445fa CLINVAR:953045 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60596979-8703-439f-a953-2ba2f83d2f42 CLINVAR:996160 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen db46fe4d-ed2b-463b-b8e7-9dc28a889d7a CLINVAR:996160 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74acab52-f2a1-4f54-aab9-85111ab832ab CA8602986 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5ae7953e-cf2b-4b67-9536-ca7664ea2a8b CA8602986 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b205799f-0f89-4dcb-9097-3d8063d77826 CLINVAR:953034 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b36b87c6-6853-43b7-a223-2f896c1be527 CLINVAR:953034 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c246c00c-447d-4900-baea-65310ee94157 CLINVAR:953021 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f197b0e-b793-428b-b8f1-ee5af76b1c3e CLINVAR:953021 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34674c62-6365-4fd7-b64d-62ab6b606a4a CA290949031 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6726aceb-61a3-4b91-87e6-487c9175ba1c CA290949031 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5802b659-2fee-4ebe-b2ab-d049ea3b24e5 CLINVAR:996190 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 87c0b4d2-8560-4dce-822e-90d0ced0e9e3 CLINVAR:996190 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 465f5607-f808-493f-8fb7-d2e961d50eba CA290955739 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cfa81a1a-80c7-4966-b85f-e09df57f3ca5 CA290955739 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef63280f-38e7-4ea4-b593-3ef480c7875f CA915940289 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 42fd1acf-919c-4347-a4e2-961c94672356 CA915940289 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71f5eb22-ab1f-40ae-a028-ac1092694f55 CA290948990 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 161bc691-8e2d-4136-aea8-cee1345fcc25 CA290948990 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cc012d2-21a1-4513-9094-ca6a6d0bcea4 CA400034866 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 098bbfff-7a7f-4c42-9c2b-2e30ee315615 CA400034866 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4e7f361-72ee-4754-9f5c-b4648bde9f8a CA915940315 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d4ed6f32-302b-4e3b-986f-09ad831be8be CA915940315 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cc9bf2d-84bd-456a-9ccf-2cc19d020551 CLINVAR:996212 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b936d57-423d-4dec-95be-c98de672f717 CLINVAR:996212 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06025c69-9d54-4951-9b13-2c52269ab9e5 CLINVAR:996202 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1c4f9881-a1aa-4002-b7b0-7ea8da180c73 CLINVAR:996202 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04391a45-1f3a-4c82-9446-714b4d18d069 CLINVAR:381748 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 70823fef-874e-4971-91da-cd1c498553c8 CLINVAR:381748 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da21f6dc-06fc-4047-b1e3-a353280abbb5 CLINVAR:996174 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9a317557-f5ae-4d88-b1d3-5e61334ef2b3 CLINVAR:996174 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92bbf47c-cf54-42ab-9b92-7c9e4f259d38 CLINVAR:953057 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1ad4a128-4ba7-4459-a03c-13ec6318d912 CLINVAR:953057 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffb5162a-1340-41ce-9b5f-58c14ac46c50 CLINVAR:627299 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f03d8065-6d62-41ea-bea6-f7db0329ba88 CLINVAR:627299 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e0f2456-88c3-43b6-9a29-d5bc807bc741 CA915940790 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 269beb88-4dbc-4ef8-8d95-ff045e729df4 CA915940790 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9597fbca-fc3a-46bb-bbf5-540d8f2f323c CLINVAR:953030 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1200abe9-226d-4bbd-b128-1dae7657407e CLINVAR:953030 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e09e39d-405f-448e-b9e0-ecbe50694faf CA400032825 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 17c00e95-306e-495a-be09-a2329e05ca51 CA400032825 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a27e6b00-72ce-4097-8cf5-c421d94b14e9 CLINVAR:627103 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5c9a1875-1eab-4d98-bf8a-2582a30416c0 CLINVAR:627103 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5efae466-b9c4-4ef9-bdc8-ee490a186c9a CLINVAR:996158 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 30444d01-5b94-45d8-b998-2929a0738a80 CLINVAR:996158 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 174c8093-39af-4ff1-9f33-6cb4cc2358f1 CLINVAR:953014 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f66251e8-f4f7-4e19-9ee4-f91da148def6 CLINVAR:953014 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 776d274a-7af3-4db4-aa3e-227c698b0e00 CLINVAR:996201 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af698c8e-5ce4-4444-95a8-b040dbb08473 CLINVAR:996201 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bba273f7-a1a8-4b96-a0bb-b05523a23101 CA915940297 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 78c1cfbd-8a37-42a2-9a09-7f299e99ef75 CA915940297 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4788d57f-aea8-43de-806f-ffc5dcf6dbec CLINVAR:996208 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 58cb698a-f517-4199-82e0-3a72724711bd CLINVAR:996208 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5929071f-c0f3-4039-b19b-24a74eea6c83 CA8622852 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f399d42d-44df-459c-a520-1a95522b31d1 CA8622852 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e94216a-88b4-49ad-9017-d29521cc705b CA400020703 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 05a8bc8b-b60a-4ba8-b040-732883d45918 CA400020703 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f5a9ef0-eb39-417f-9e48-41e215ba747b CA626224450 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a1a1ae96-13d9-471a-bad4-a4ea9d0231e9 CA626224450 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67cd369f-dfb6-4d88-a9a0-e8eb7c53e804 CA400025022 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 996e0e5e-26dd-4005-9126-eaaefc5a03be CA400025022 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bf69679-8dd7-4364-8f96-1e5dde5566ea CA291224887 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0113c0c9-1efe-44ac-a97f-5d2cc4af8eaf CA291224887 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca0c6369-8d82-45e7-b67f-3d3f06f4c092 CLINVAR:626993 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff5a51f4-b5d1-420c-b7bc-45fe02aa5c9f CLINVAR:626993 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ce8f14d-3250-4b8b-8aca-cd39158aece3 CLINVAR:691627 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7892f225-3c15-4f13-aef6-8630dc4f1cca CLINVAR:691627 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8ced67d-860e-4751-be78-3720a94f81bf CLINVAR:996181 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 889adbc5-5082-4acc-99df-f7da1469009c CLINVAR:996181 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb60253a-e6a7-4f02-b5ed-fea7ea419882 CLINVAR:50232 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 964e9c16-35bd-4b80-aebd-c79885b2be87 CLINVAR:50232 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b535f05-a188-42d2-a7f7-d536520cdba8 CLINVAR:953039 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 251beb8f-f3fa-4ed2-bab8-49c4092ae267 CLINVAR:953039 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecc135b2-3363-4c90-9993-f75e0c3958d7 CLINVAR:626927 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9c5eb648-2d21-43d1-8280-900a7c43993e CLINVAR:626927 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55d07b71-979a-4d97-bc57-c307bda08f39 CLINVAR:953058 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d910aacd-8e91-4ecd-b405-d0bf43b22e84 CLINVAR:953058 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 553af0db-d8db-4fcd-8b65-e2701bc34646 CLINVAR:953035 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2027d2cf-b8a6-4f09-b0b2-7ac30fad4bc6 CLINVAR:953035 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54ee46cd-581e-4d5e-ad0a-a523dd5c59bb CLINVAR:996166 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f5be843f-958a-40d2-848d-0ed2dfbc2402 CLINVAR:996166 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 839ddb1c-3d63-4ded-a500-86ecddc6e98b CLINVAR:953036 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f2a7da4e-7d0c-4edf-84c2-70ba1e02b364 CLINVAR:953036 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9468802f-7673-4b42-b869-864316f58b21 CLINVAR:996189 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3d9ea41f-e5c7-44a0-9962-954288e3673f CLINVAR:996189 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4e8d8c6-d57d-4a36-97ad-aee51d263cfc CLINVAR:996182 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c1ad7e09-32ae-41d6-806e-e103129872a2 CLINVAR:996182 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1a57f36-b165-4b0d-b9e0-095be8ad73d3 CLINVAR:996200 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cd9a02ff-301b-44d9-90f3-6bcd8ea89b6b CLINVAR:996200 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7451785-7f66-49d1-964e-ccc86b34f9e3 CA400023596 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce3cd12d-e536-4bc8-98c9-0d2c43e2e2ff CA400023596 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49507862-c44e-4442-82f8-3db0c55fe7d6 CLINVAR:996205 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7d37ce0c-6960-404e-ac8a-70c271447a74 CLINVAR:996205 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 694b42a9-91a4-4889-be9e-53cd3c5f706c CLINVAR:953012 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 30caba0d-6e2e-4fbf-8dbf-babf17ff3e51 CLINVAR:953012 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec6ae889-a4bb-4ddf-938a-ac0f8120dc36 CA290954352 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2b3d7bc1-c72a-42a6-8887-9bc5c3f41da4 CA290954352 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64635222-9738-4eab-9a8d-c3745d34e900 CLINVAR:953038 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 34d0a6cb-bf1d-40c7-ac77-e1854836f77e CLINVAR:953038 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a4610db-87e6-4c93-b20a-95ca9d188551 CA399805155 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3e88af57-97d2-4b3f-85a3-309fdb282d02 CA399805155 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 845ec6df-7ea3-483f-ab42-719e24796413 CLINVAR:73556 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a6a6cf31-5e16-441e-b8df-3232819caaa0 CLINVAR:73556 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9a5bfaf-8a5e-4a29-9bcb-14a5bfb6a275 CLINVAR:203872 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e37edeeb-0ab4-4602-bf47-c88be10e064f CLINVAR:203872 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb1e00b7-4c83-4b3c-a7fd-d1fa2911e8ef CLINVAR:883981 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1dc4effc-9617-4ae5-a812-3d0cdddece22 CLINVAR:883981 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0aa213f-6d42-4645-8d8a-036d557bce55 CLINVAR:620 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1f297c3a-0697-477e-9281-4675ba116796 CLINVAR:620 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61718a1b-73fa-44eb-acc3-31622a473535 CLINVAR:102914 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0aa99092-4693-4a91-877a-0a03cf9f1d26 CLINVAR:102914 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73e3f5c0-2b2f-4775-93f2-0f6fe88bff90 CLINVAR:102517 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 04dc6f96-5dad-4ca9-a608-2d2c786a3ef3 CLINVAR:102517 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 720d0304-5c4e-46c2-a03e-ac8e52553128 CLINVAR:102794 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 88020bea-4683-4c39-85cb-c9ebd7aad85e CLINVAR:102794 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c09d17a-cdaa-485b-afef-27bc474a4d82 CA1139533026 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3de646ca-81a2-4a8b-801f-3947b3339071 CA1139533026 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15212a0e-a4fa-4b74-9115-9f76b1a121b3 CLINVAR:102508 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5b299bda-4e25-41bb-8d73-a22a244c41ad CLINVAR:102508 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f0faf62-8353-4a4c-b9e7-1949f620d00b CA645584081 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9fcab4f5-3b7c-4af6-9e78-04f8470ae306 CA645584081 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b63f0d73-3038-4ebe-a554-6b84c0fdeb39 CLINVAR:558091 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e10ee2dc-e55c-474b-9149-adeaa83a1378 CLINVAR:558091 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e44ac1d-47a9-49e5-8e6c-55c6497b3543 CA16020897 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f98091a9-4719-49bc-9d65-e8617b7530e2 CA16020897 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a6bab70-04a6-419d-81fd-a6f8adf895d1 CA16020853 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 58d4d21e-ed13-41b4-9e58-9b7c3e2cd290 CA16020853 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b54c637-3751-4d09-8fdc-06ae66c8ee9e CLINVAR:102501 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 115a6cc3-7df4-4caf-8f58-0e01bd1b358a CLINVAR:102501 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9614414a-1d06-4663-9e70-3f023e73217d CLINVAR:590 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a61a934-e096-41e8-9c53-266e0b2fb8e6 CLINVAR:590 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a03b94c-fafd-4b50-8264-17c61e948763 CLINVAR:446524 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 11a17b56-2904-4510-8aa6-8c9c149d76fd CLINVAR:446524 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64d57c00-685e-435d-913f-8dae5dfc9e84 CLINVAR:120290 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 382820bb-cf4b-459f-a687-6fe07ff61a8c CLINVAR:120290 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f26b3c21-261d-407c-a2c4-acfd49eebf48 CLINVAR:102883 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33d4df45-4266-4198-a9f0-23f8be4bea26 CLINVAR:102883 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e0f9662-b60f-4e87-9bfd-819a5a0374c4 CLINVAR:12969 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dac2724e-22f2-4311-98c7-4451c52cd5cd CLINVAR:12969 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff6867f2-ed1a-4319-a46b-e470343f626c CLINVAR:12993 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1d99762f-9d75-4f22-9ca2-536eda499002 CLINVAR:12993 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1cac124-dc12-473f-af2d-ecca190adf79 CLINVAR:133101 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e40efe5d-6f95-483a-868c-a7ef280c64fa CLINVAR:133101 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1b5f9a9-dd0a-4b7a-9074-72b2714093ae CLINVAR:133108 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 82bc2ece-5c0c-4519-8ce7-a96e8a932b54 CLINVAR:133108 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5d92b54-2639-4551-bfb7-1596a2cd2443 CLINVAR:133193 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6a133189-49de-40fc-981c-487f2ada1074 CLINVAR:133193 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06fc31c4-43dc-420b-b76f-39a2abfcfeca CLINVAR:133207 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen de464c74-d41c-464e-90bc-ea34b459129d CLINVAR:133207 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1f6c0fc-c6f6-48f3-b04c-a2bda520f297 CLINVAR:161371 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8b25c9e8-ab97-46d6-81de-7ce1b4196b13 CLINVAR:161371 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 434e5c06-4eb1-4204-952c-9e2b79297db6 CLINVAR:1214007 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 875f8856-256e-403b-8141-8fb3396671be CLINVAR:1214007 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d17aca4e-1557-4aca-b44b-6ebac6609380 CLINVAR:133117 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9470655a-e1e4-43f9-a521-c78322140e1d CLINVAR:133117 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa4b909d-8926-4585-8f8e-a2231814b499 CLINVAR:133094 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c878221-830e-40d7-8eb4-ae0b574e8522 CLINVAR:133094 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09b92c93-30b8-4964-b902-d57d60e01817 CLINVAR:133204 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 230516fb-5234-428b-886b-73aa2dc7d375 CLINVAR:133204 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db20a7b5-9223-4ae8-af08-584e0f367157 CLINVAR:573252 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 371eaa6d-9b31-4a65-8392-a6c2bc8fb894 CLINVAR:573252 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e37f191-90f5-4f56-b293-091eb2073d0e CLINVAR:635269 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 123869ad-8051-4bae-a4a6-0f2c689fb060 CLINVAR:635269 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f76dedb-893d-43e2-bcd8-241d8debb207 CLINVAR:133242 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc74d616-e43f-4ddf-b043-d423073ddfa2 CLINVAR:133242 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33cc2847-23ad-4ee6-a307-02839e5a38dc CLINVAR:65927 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 04a21d8d-b3e7-4144-8379-af7c9887b60e CLINVAR:65927 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80ee4359-8a43-477c-b632-b3323c5de3f8 CLINVAR:133030 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c832a3f-fc99-4561-a9c8-440916665509 CLINVAR:133030 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3150804c-c0da-4166-ac18-523fc4b679b7 CLINVAR:161374 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ca507133-4030-4d23-bffb-c0a50bf8bfb7 CLINVAR:161374 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5e76783-ebee-48b8-9d9a-b56c77f7c713 CLINVAR:133099 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 28969944-21e3-4df7-995b-89574e22f6fe CLINVAR:133099 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 041dd6c9-1420-430e-83fd-2d0fa5b5fc4b CLINVAR:133182 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e6543ed0-780a-4117-9084-679a1f847a5c CLINVAR:133182 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82a0b188-6179-40e3-aa38-192c62c3b77a CLINVAR:133102 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 89109d0e-87d7-4908-beea-85b20950c1fa CLINVAR:133102 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04015171-af75-4ccc-8688-c3f4213a5bee CLINVAR:133245 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 31b64329-c194-41ea-8698-6e6a7ef4e2a7 CLINVAR:133245 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4797aa18-7012-442e-8e33-b80d15c06e8f CLINVAR:12964 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 45d12fd3-da09-4a38-8425-7e086ef02da4 CLINVAR:12964 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 898c61f8-ba33-4cb9-a326-3fd82993cd50 CLINVAR:133147 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 03312038-88ad-4440-91e8-e231433652ab CLINVAR:133147 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbc33a7c-9969-45f2-bef5-ce32148031df CLINVAR:329061 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c06fddbd-c18d-4e06-94ee-43b1ec24ee42 CLINVAR:329061 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7699e1d2-b6db-490e-b45f-fb4490aa2dd1 CLINVAR:133133 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 70639b7f-87cb-47ac-8171-e4b60db6af6a CLINVAR:133133 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cb4ca5a-e56c-434b-b049-29981f593931 CLINVAR:133004 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f0298cf6-50c9-4e63-8d6c-b381e0c386ae CLINVAR:133004 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85fd37dd-2e5b-4480-9172-648ac3b6c8db CLINVAR:133132 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7783bd8c-2e11-44e3-bbf9-cf63cd90e2b5 CLINVAR:133132 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b895607f-8318-4e51-ab8b-14a274dea0eb CLINVAR:133171 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0681a33b-e47f-40cc-88af-a4bf7ba8706d CLINVAR:133171 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b7d8ddb-db82-4f59-85a8-0351ab4655d8 CLINVAR:65984 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 398eb09d-cfc3-49ab-8de3-6afca2b26ded CLINVAR:65984 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c192105b-6f32-430e-8bf5-9ce737418b07 CLINVAR:133136 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f8af700f-8142-4829-b949-5b0d6567c0e4 CLINVAR:133136 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4f2cf78-d513-44d6-bb6a-57a32af6544e CLINVAR:65953 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ac1727b4-9626-4c87-a73f-941ff7efae01 CLINVAR:65953 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ab50c17-9dd3-43df-b132-fc7886166ff1 CLINVAR:1214004 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b232ba9-4ec1-431c-809f-1ef98c4717db CLINVAR:1214004 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 880c33cf-db51-4f2a-bc30-d10a0e40f9b3 CLINVAR:12973 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 25dcb8df-ca05-49b3-b73e-e0ded392d137 CLINVAR:12973 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bd16579-70b6-4b76-9c08-192790c38d1f CLINVAR:1214001 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3dac80c1-f959-4e1a-be62-372fc998e280 CLINVAR:1214001 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7758ab11-544f-436c-9192-000d96d6d0e7 CLINVAR:133003 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91feefd5-423d-446b-a265-0dacafff6604 CLINVAR:133003 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 949eda84-2e20-4694-9c22-2d83ef40e4bc CLINVAR:590508 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f53cfd48-60f6-414e-b1c8-988ff570c9e6 CLINVAR:590508 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 862889e2-0b3f-41f0-a2eb-9121dd8425d8 CLINVAR:133139 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5635119d-28f9-47c9-b0c3-b1fdb2f2bece CLINVAR:133139 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8005d960-c74b-4cb2-868d-26eab10ffebb CLINVAR:1214000 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 10af5afa-e698-4f26-89a9-5bb933e0c7b0 CLINVAR:1214000 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20b2cc71-f41d-4d4e-ae51-8cfb4133452e CLINVAR:1214008 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3eea2446-7c37-4b52-a67d-e97f62f74829 CLINVAR:1214008 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e36e715f-4b5a-49e9-8ec3-24151ddc40ad CLINVAR:590585 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9c1d646e-e6ee-43fc-b02d-4cca91183b16 CLINVAR:590585 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28786836-6ba3-48b5-b9f3-ae99048fdd1d CLINVAR:133045 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen df157f6a-eb37-4fcd-a29d-3efb5d38072a CLINVAR:133045 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bc266b4-1571-46d0-a148-fa6179ea06f8 CLINVAR:133122 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 97c0870f-d4c1-48a5-a10c-9b5088bff0dd CLINVAR:133122 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0011c323-2b1e-470e-a2ac-00f97f6e25ab CLINVAR:133076 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2f89255-e9b8-4d4c-a9ee-77eff40861ce CLINVAR:133076 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81d402e6-bb2c-484b-bd91-3e3146c3541a CLINVAR:132995 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 88e9bc75-724f-464a-9b5c-d6b3592b2c22 CLINVAR:132995 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a724f7f-e15a-4c56-b09d-570e6e33aeb7 CLINVAR:133141 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b9b8ebf-900f-4a2c-8dfa-f743bf7cf0bb CLINVAR:133141 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35f1430e-53e0-4297-94f3-51a45c0ccd5b CLINVAR:448182 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 69d91a00-dc98-4c22-a06a-aa149234e81d CLINVAR:448182 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ba9df21-86ad-4151-9ec4-3a1d87be4ab8 CLINVAR:478267 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7ba078df-083e-4e4d-be80-97c4a4115d60 CLINVAR:478267 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9319a5a8-6e77-4350-970d-4ca8ca70e9ed CLINVAR:133129 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 05a5edc5-2fab-4cbd-8820-673ed9b16a41 CLINVAR:133129 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 373dae95-e3fe-4482-9626-a71b1be4c563 CLINVAR:133103 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 09a8dc38-31f3-4f5f-a7ee-2299151ba361 CLINVAR:133103 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f446529-115f-4edc-9c76-39966c4ac7ac CLINVAR:132992 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0b3d1e35-3693-44d9-874d-bef3948d7a78 CLINVAR:132992 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 652a0524-6d02-4e3a-b919-4ce88c9ac9f4 CLINVAR:1214005 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9bf7386e-7e76-4b20-9ddd-ac132b66b068 CLINVAR:1214005 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00684378-c231-46e7-a02b-c1dde446029e CLINVAR:133137 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0f39983e-1095-45b4-996d-6f899a5e6398 CLINVAR:133137 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9770cc3-ac3d-433b-b4fe-e94854f18658 CLINVAR:65932 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c13e9a25-7517-46d1-ae30-1514098d1851 CLINVAR:65932 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55ef08fa-5e01-43dd-8ddf-e588da820445 CLINVAR:478260 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1acbd7d3-1e12-4ce5-b3be-2353e5366dad CLINVAR:478260 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b270df11-99f9-4048-aed6-fdf057f8af34 CLINVAR:133170 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c83045e-e2cb-4b03-84a7-bceeaa5ebf03 CLINVAR:133170 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c36c1110-8e87-4626-8209-f2c3eee69830 CLINVAR:65993 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 934f8b50-fbb3-423a-8108-806e5ee91735 CLINVAR:65993 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c102bf75-a0a5-450b-a03b-6a04f9aee304 CLINVAR:159840 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 045ed525-bf5e-44cd-8109-76ed62d52ba6 CLINVAR:159840 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3473c62b-14cf-487a-86bb-16f6b3fb0041 CLINVAR:133140 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab22a8ee-5b3b-4a50-99ad-91abbbab2309 CLINVAR:133140 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9597655d-0337-48ae-ad6c-0c013e423416 CLINVAR:291315 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f1ce5ff7-5735-43a2-bd57-450a2c5a753b CLINVAR:291315 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f68ec871-008c-4e63-854b-61a223da71d8 CLINVAR:1214003 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 988d3429-0057-4f9c-93a9-5693462649c0 CLINVAR:1214003 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 623bf48e-6f02-46a5-a791-0300d5bb37e2 CLINVAR:133046 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 348d65f1-cfdd-4ebb-9d26-afb9d62e20b9 CLINVAR:133046 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a78281b-a1df-40f1-a28a-04f6348f2816 CLINVAR:1214002 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 85608242-7616-4f38-b36a-65607209cfa6 CLINVAR:1214002 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5462013d-d7ee-4250-a743-4251cdb46f76 CLINVAR:803553 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a2174fc1-b1d0-49a6-a825-8aff2a0987ff CLINVAR:803553 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbbe567b-b444-4809-a692-423dfb292718 CLINVAR:212100 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d993ae4-a52e-477d-8a1d-f6689a16578f CLINVAR:212100 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d082ee21-78d6-4d9e-90fc-dce6d508612d CLINVAR:55831 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 197e377f-1cd8-4a71-80c9-911478a43418 CLINVAR:55831 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e53ddd99-1219-4426-ab76-988df0635b0f CLINVAR:133096 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f2f154c0-81ba-4796-82f3-781caf022d80 CLINVAR:133096 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adaa1e57-4d2a-48f4-864d-5226ee553aa5 CLINVAR:102859 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 37c477cf-476b-4291-bde5-4f3177aa6011 CLINVAR:102859 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8528e83-61af-4932-a923-620d21d5dbc1 CLINVAR:102727 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 942958b6-a33b-4db8-9380-a8c3a8505aba CLINVAR:102727 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 344c68ae-a666-432e-81d1-a22c6ebbb1a2 CLINVAR:664621 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4de16717-f9ef-4c80-99f5-12de5bc3ca94 CLINVAR:664621 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfb3a645-96fd-4e5a-8246-348465b55b01 CLINVAR:102738 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6e5707cd-2920-4c7d-bfc6-6d7c597e61ea CLINVAR:102738 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67bfdcf0-f06c-4166-8c3b-3f11b787fa52 CLINVAR:102878 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 88bc9cac-69e4-4b62-987f-45214f26137a CLINVAR:102878 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f9046f4-0d85-4b30-8888-0acac59e8be8 CLINVAR:102890 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bd042b1c-d279-497a-ae32-31f96a4bfdcc CLINVAR:102890 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b915c78-5961-4b16-996b-bae63632dbc5 CLINVAR:102464 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 32e35b62-4d7b-4f25-b043-7adb43d7c239 CLINVAR:102464 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1abaec0a-6826-49b6-bf22-c7b66001bb1a CLINVAR:102917 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff77fe30-335c-464d-957c-06c40b2203a1 CLINVAR:102917 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0b5b5d2-688b-4f2c-8a83-845428b9a3db CLINVAR:282842 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f445a35c-bd90-4379-960c-ae040691c1d7 CLINVAR:282842 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12096a9d-4a26-4faa-92ba-9bdefdb36883 CLINVAR:93540 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ac4ae377-7fa7-44a8-a745-cb82f4a39ea2 CLINVAR:93540 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4465e58-4ed1-48ff-a492-0f56f877b4c3 CA6748738 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de092c0d-7792-45aa-8864-87198acc9f3a CA6748738 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 012dd1fc-e79a-4955-a0a4-8dd3fb46d1d2 CLINVAR:2896 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1d54ca9c-9178-4410-8cf4-ff2695729d30 CLINVAR:2896 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96fcf741-8a21-409c-96ed-3180ec584740 CLINVAR:952997 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c84e3ffd-d731-45f7-8e9b-cdbe38153fbd CLINVAR:952997 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad3533b2-bd47-4a85-934f-8a311ffd420c CLINVAR:952995 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 60c0b794-0db0-44d4-abfb-dad165fb5937 CLINVAR:952995 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3907e9b1-cf74-4c73-b53b-8acb6ce58ff1 CLINVAR:132709 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9609b14f-b766-49c8-97c6-03555396c8a9 CLINVAR:132709 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c20bd40-c9e3-48bb-9f2f-2487147f0c56 CLINVAR:234571 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0064dc3c-9293-48fe-a7af-02834c66b3fc CLINVAR:234571 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fb35314-2660-448d-a2e0-46d1ec210a75 CLINVAR:532474 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2b35201a-168c-4712-be7f-d72200f6ce51 CLINVAR:532474 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00e2271d-9ecd-4628-bacf-3378c018ad07 CLINVAR:532457 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e385ac4-81c1-40a7-b138-b7c59e8d4ed1 CLINVAR:532457 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25aba622-eb90-4a1a-b201-e70cf4cddd5e CLINVAR:486826 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 52d19fba-ecbd-4402-8f05-431690cb2da2 CLINVAR:486826 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4293096-766a-48fe-a5b9-bcedcc9ae7fc CLINVAR:463723 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b5afa38a-5c0f-4701-af21-d9e7df5bd2ec CLINVAR:463723 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcdd254a-87fb-4c79-bc2e-c8044a14fe61 CLINVAR:481704 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e991021-b987-4bd8-a5aa-73cee4aaf674 CLINVAR:481704 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1636ffc5-eb05-4943-8b36-9fd81070320b CLINVAR:532459 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c7bd9a4d-8034-4c65-a774-97f48c7eee0d CLINVAR:532459 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9657826-938d-40d7-8897-109481f0f5f0 CLINVAR:233417 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0636722b-c098-4347-af43-41d65b1f1c91 CLINVAR:233417 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fec3337-483d-496b-a572-c15bb1d3c107 CLINVAR:127915 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2576fe10-9887-4b44-aa91-cc366dfc4ce6 CLINVAR:127915 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 136bb7e9-066d-4f2f-8e03-567007dd4cc4 CLINVAR:406622 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8d2e04b7-1665-4a79-9628-428a1e75e31a CLINVAR:406622 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a0f159e-6d69-4086-b013-143dcb34003d CLINVAR:651982 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 49660781-2dc7-4b4b-a1e4-bf4bd55d6ea0 CLINVAR:651982 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5c88a69-f54e-412c-bd26-587dcf0f9d20 CLINVAR:428629 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 30bf38dd-16a8-4400-9a7f-49fb0f0dca87 CLINVAR:428629 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e3393a8-77a7-417d-a7d4-612531a160de CLINVAR:371806 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6a0c8868-8376-4558-8eb8-726178e45947 CLINVAR:371806 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abddeb35-9841-46aa-8c61-a90e81e08bde CLINVAR:479514 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ab8560b0-02a6-4747-bbad-7df8558a56de CLINVAR:479514 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ffc6313-32cf-4a60-8cab-0a6fb00eb1de CLINVAR:421639 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2fd0bfdd-b491-4589-876e-dd57aede55ef CLINVAR:421639 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c5963ae-7425-4a22-ae09-42901feac8cc CLINVAR:491520 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 12c84608-1f24-441a-88cf-81704858de5b CLINVAR:491520 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e613685-03c7-45b4-aa8d-fb9a9c145a19 CLINVAR:481028 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4d1c1af7-fdc6-4fc3-8427-7229d77d3a14 CLINVAR:481028 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29aaef71-ad37-4121-8a16-405826ab35ed CLINVAR:224529 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f08756e5-a914-4a95-9d81-e96e2094eea7 CLINVAR:224529 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68640c63-2073-4b90-a0c5-251162ada30e CLINVAR:573147 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 16087601-4d23-4492-bd8c-d7c92ff8934d CLINVAR:573147 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 125e5fe0-4ba7-4406-8dcb-ccce441f9aba CLINVAR:428634 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen be231fc9-fa02-4aa3-8183-a1f2ab588416 CLINVAR:428634 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e682ed75-653f-43fc-a44b-b90f876738fc CLINVAR:463736 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 196f0677-b659-4595-b91e-d24f0779b352 CLINVAR:463736 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ec3214a-af8f-466e-93fc-592cfd6c04fd CLINVAR:918853 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8e2dbe48-6dee-45aa-8574-16b3469cf2a3 CLINVAR:918853 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 601037e2-9f12-4837-8d6f-5cbe2d04345e CLINVAR:234636 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f0bf41e3-6249-47b5-a7f4-2cc53bc8f5b1 CLINVAR:234636 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fc76420-ac62-440f-a736-d614aadfff96 CLINVAR:483276 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 436a4ef8-946e-4b6a-9ab4-edddb67f74bb CLINVAR:483276 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen befd2cd9-5999-4d59-a775-aa9b4f7c0310 CLINVAR:207545 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e0b6c08d-c565-4a01-8f5b-28d3a485d370 CLINVAR:207545 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12332a45-f170-4530-a726-e8b3e8df5d75 CLINVAR:95378 biolink:causes MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ff47177-9c0d-4669-b0c6-bb3c2fdfee7a CLINVAR:95378 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cae017a9-a002-4cc0-be22-79da1dbdaa5c CLINVAR:167702 biolink:causes MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4325a3e2-c911-4e62-ad7a-81d3f2088aef CLINVAR:167702 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e42ee77f-39e3-455d-8f5f-592820034b96 CLINVAR:95202 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0fbbe648-72aa-461d-9658-6549c68d1746 CLINVAR:95202 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61a2364d-1a08-443e-bc2d-f31924079141 CLINVAR:143406 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen babc3f9e-ee6f-48cc-b066-0dfe34c35077 CLINVAR:143406 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cd59fa7-bdfb-4c9b-af65-39ee0464375f CLINVAR:158602 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b5b7879a-8d01-4eb6-99b3-99902d640e39 CLINVAR:158602 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ecf6d22-3105-49a9-a41d-1f8305a99961 CLINVAR:383439 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 42d3418c-f1c1-49e6-b1f4-869e1705ff4c CLINVAR:383439 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0178ef3d-fbfd-4543-9965-8ba5a8634dbc CLINVAR:189612 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6ba471db-8c6d-4178-8951-0f6d208a089d CLINVAR:189612 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3269724b-8516-4067-af66-1932f3a6b010 CLINVAR:156616 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 02556c0b-e760-464c-ba64-863b0e3385d7 CLINVAR:156616 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 360f1aa7-6457-41df-bbbd-147aff859576 CLINVAR:205485 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e06a0d24-e01f-41ff-8c71-ea901a840a74 CLINVAR:205485 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f8b3d63-cec9-4dd4-a35c-954941cdacb2 CLINVAR:7967 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b03ee552-33e6-445e-ae28-2a2fe2ae7a0a CLINVAR:7967 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ea18cf1-551c-42e4-8cbe-4f97dabc086b CLINVAR:546267 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b4e98b59-ab5c-4676-ad7f-ce0617e6d8d8 CLINVAR:546267 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2389222-a0fb-4592-94db-f2caf648b957 CLINVAR:214935 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 05577444-4301-477d-b9b8-0d607740eb3c CLINVAR:214935 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11eb0f46-2c0b-4570-a102-a5eb5ad9aa37 CLINVAR:10880 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aac67c7f-bdcb-4714-9401-8d718ee47d76 CLINVAR:10880 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f384893-f29e-42d8-9fd4-0b830e661f6c CLINVAR:214941 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 153e0e19-99d6-4807-9ddd-9cfd472f9151 CLINVAR:214941 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f064b58e-3ff8-4c79-b72d-7b3a73c4bf7c CLINVAR:655703 biolink:genetically_associated_with MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d405ee9c-ee16-4239-996c-91765a62d3d7 CLINVAR:655703 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4492f70-5725-4b2d-9b32-f5b3075f1ab1 CLINVAR:391039 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d65cc7b4-33dc-4da3-afa1-b7bcdb407604 CLINVAR:391039 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f226ecd6-4440-4b33-8747-556fbbfd0228 CLINVAR:2317 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f7c54215-868e-4d69-a2a9-c7e5344f8e48 CLINVAR:2317 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9e94ac1-298a-4d05-8878-021afc65f671 CLINVAR:129997 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8ebf60fc-2abb-4b3d-a3d3-e3e749e0bc87 CLINVAR:129997 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e361dfb-ed21-42a4-bf92-1e37af1f1a91 CLINVAR:138764 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 47062d97-dff1-4c27-aecd-190477de2966 CLINVAR:138764 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc5f4bc1-8251-4c67-8f23-8a6b78570f68 CLINVAR:597808 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 38cdad7f-9d3f-4a41-b8ed-3a29355afbc5 CLINVAR:597808 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e382498e-6b0a-4dff-823e-b9a64cc6f68e CLINVAR:21315 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d19e6ccb-40c4-4eb1-a693-c5072412993e CLINVAR:21315 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 450e5bd8-795c-4c92-9e8b-96ebcdbbc185 CLINVAR:285869 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3cd91889-79e6-42cd-8de7-ad1bcee5e2ac CLINVAR:285869 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db911457-4d96-4a70-bdba-6db65567b142 CLINVAR:378418 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 32236d67-2858-49e5-a620-9711d172efa4 CLINVAR:378418 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7815e81-ed3e-4306-afcd-6cf2bf1bcafe CLINVAR:885824 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53771da5-187c-474d-bb7f-d8a0eccf3de7 CLINVAR:885824 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b731ac5a-bd5f-4dd6-9731-43538a39bbf3 CLINVAR:886829 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d3546c9b-d688-4021-8a2c-819da65e839b CLINVAR:886829 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b6146ac-8986-414e-afa4-a33254f7bd70 CLINVAR:426681 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2dd3d683-4964-447d-9a9c-7636c13d3870 CLINVAR:426681 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b10a9185-f94e-481e-b6d5-075615ab7bb0 CLINVAR:619340 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba3a51e5-4311-4474-9ded-30d39e699966 CLINVAR:619340 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d43145e-be89-4acd-97cf-fe858bf7296d CLINVAR:317304 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 54346c12-20d3-48a6-bcc8-fb2dd44bfa76 CLINVAR:317304 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 666dbd41-9993-42c4-8e94-4a4298f23aaf CLINVAR:129995 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f09c3b85-b0d3-4588-bc21-c5f868e4a8aa CLINVAR:129995 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 957c4472-6832-4f3a-8efc-f2f54be631ca CLINVAR:206553 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7a7f11ae-e7fb-4d83-a5e2-5fc2b46c1432 CLINVAR:206553 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea3c2d7e-bf38-41a3-a0b2-1abb4366ed91 CLINVAR:504504 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5a58c629-1c50-47cf-9eac-c333f64bd6b1 CLINVAR:504504 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ba31d48-5da9-4532-82a9-922c5d8c32d6 CLINVAR:620293 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eb2f2613-f432-4688-8b63-e8f5de560ec4 CLINVAR:620293 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 221df045-696d-49db-8f2d-b774f7d43af6 CLINVAR:143822 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7f3d5426-d1b3-4e81-bf29-f40d4553acce CLINVAR:143822 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da9071b9-bfd1-4769-9129-47a85f215b7f CLINVAR:437192 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3d4b1a8a-405f-43e2-805c-bed06a15d6b7 CLINVAR:437192 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82ad4c8a-cf06-4eb8-943e-47595fc8bd2b CLINVAR:195397 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ef39851-83e1-4061-ab0f-c6172d4786cd CLINVAR:195397 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afdb542a-7696-4811-8060-76c93c5605dd CLINVAR:418572 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b0a37c64-94e5-4226-8cde-67ec7efea8d4 CLINVAR:418572 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1025bb03-ae82-491e-b112-8c8d335e1124 CLINVAR:94113 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4f9e1c18-3284-4785-b484-2b91d1cdbeb4 CLINVAR:94113 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c55140de-c4e4-4c4f-85aa-5a33b376f223 CLINVAR:102891 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 08feda69-a919-4611-bfe2-8f734fe25772 CLINVAR:102891 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afdc0403-c83c-413d-b9ce-3fdfd1be4a82 CA16020891 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 693b94ed-f0e8-4d3d-b314-f4271ad71969 CA16020891 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b719e82-b67a-4c2d-8fa2-1f44eabd765b CLINVAR:102466 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5230c782-65ac-426d-879e-47041aae6aef CLINVAR:102466 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32df6e98-52c1-4a29-8ba5-5471fb542545 CLINVAR:102467 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2c2ed0a4-d1d7-4c25-abd6-490ec4f717fe CLINVAR:102467 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d83a155-1402-47c2-9012-6b4ba3585e96 CLINVAR:102469 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 937fa3a0-31b7-490e-9c65-120bf129f6d7 CLINVAR:102469 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea179bc0-67d7-4288-b774-3c206eec1660 CLINVAR:102471 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 72e0314d-d551-4c89-97c0-ab91283772ee CLINVAR:102471 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac81469b-f6ce-4551-bab0-09931fe1815c CLINVAR:102472 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 44336543-5253-4628-92e7-2f12de2aaf15 CLINVAR:102472 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98641d3e-1e2e-44df-a453-790cd4620dff CLINVAR:102512 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cae8a030-675c-4e34-85ec-1d49693d7fd7 CLINVAR:102512 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35a046f3-a477-4809-9336-7ac0e8f86fc6 CLINVAR:102527 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fbadbae7-7a61-4583-9d83-04d671bfcf3b CLINVAR:102527 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa6bbaa8-a2ae-47ad-b099-a5a3d05b246e CLINVAR:102665 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen afd2076f-a984-4d01-8bbe-e4df54e74058 CLINVAR:102665 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea7ef819-8533-41ee-b9bf-d6edd590ecb7 CLINVAR:690393 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 27c046d5-3561-41de-8719-3952449245ca CLINVAR:690393 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ad7aef7-bbbd-4fe9-9945-5b508d0cc44e CLINVAR:434661 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ab47d40-d615-4cf7-8f28-14fd51ab100d CLINVAR:434661 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2390c255-577b-461c-8ce9-ed95c306feca CLINVAR:434662 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 587f69ed-a613-4f4e-9ae1-102c2cf8c8b7 CLINVAR:434662 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7043ba29-4ba4-4ea2-a757-b9d3655b68fc CLINVAR:133342 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c780f21-a334-4019-b2c4-912b43e3ea06 CLINVAR:133342 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42cbe7f9-abee-4501-9397-0b0714426efe CLINVAR:143578 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 910f1662-bb2e-4dfe-92c7-9e7fd940cd2f CLINVAR:143578 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85018541-4322-4095-a09a-ce8f255838b2 CLINVAR:421239 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0cf0d529-4fbe-4240-b7e9-61b9a0c3f9d1 CLINVAR:421239 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4d7f31d-cefe-4cb5-a406-007ddc4219e0 CLINVAR:420601 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33fd17ff-e27b-4959-8a29-2a30f5dce978 CLINVAR:420601 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ec6a9d6-a959-4248-9b25-817c78228e42 CLINVAR:524012 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 07c2bc4d-61d1-420a-90a6-3342309daf4a CLINVAR:524012 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe556fb8-9f9e-4d00-9577-0212a48953ca CLINVAR:207239 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed9b3625-ef94-4c9b-b53d-d9c56286330b CLINVAR:207239 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98405a44-8545-45d6-a87c-cf6c25dffade CA913189044 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a4ade868-8e0a-470d-b8b8-629efbf780e8 CA913189044 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d600207a-bb9b-4904-b7a1-fb354488bead CLINVAR:859603 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b3c4b7d7-c2ec-4b51-9c42-a2ca8b960961 CLINVAR:859603 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9308bdaa-98a7-409f-a26b-ccb48094fa59 CLINVAR:429629 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8c1810a7-2827-49ec-9454-0cab972b8581 CLINVAR:429629 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a3289af-2761-4d98-97e9-e394b7f080c2 CLINVAR:11824 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 739d42a0-b885-4b00-bbce-bc1493a4f510 CLINVAR:11824 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 147df9a5-815c-458e-a37a-4266d9711602 CLINVAR:11503 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f9b1a20b-5b82-40ba-8029-a1d062b81f45 CLINVAR:11503 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c53dbaa-aa34-4a50-9896-dc33b417f4a8 CLINVAR:503729 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a623d4ea-fe48-41a7-afd2-61baadd08573 CLINVAR:503729 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 327124a9-94d2-4da6-85cb-c0bc19de2e25 CLINVAR:11819 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3136a1c5-9a57-4a2f-a8e7-5c722ac0a718 CLINVAR:11819 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06c32c0a-0fba-4b25-a5d1-710318f67ea4 CLINVAR:7371 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 394c94aa-b4c4-49ff-a646-74efc937a55a CLINVAR:7371 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17dd3d02-29e2-4161-927e-cdba50398c57 CLINVAR:212379 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 23fa01d9-58b8-4b98-a481-91820f779402 CLINVAR:212379 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74b485fb-fff9-47af-a7dc-c64f81d90967 CLINVAR:451937 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3191dc87-5688-4766-b48f-5cab8d12ad67 CLINVAR:451937 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 607c2ea0-a031-40e4-9545-4b4ef4d83a19 CLINVAR:160220 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8219cd6f-bcd0-4616-b649-f90571c10b0b CLINVAR:160220 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dae86ff-fad7-486e-aa90-098c259244ce CLINVAR:393171 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5634694a-3d99-4fc9-b7c1-369884a78e58 CLINVAR:393171 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09acc2ce-48f1-4aab-9e61-5e43752e34fe CLINVAR:156620 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 073371f2-69d4-42b4-942b-628499778371 CLINVAR:156620 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98fd2538-91f0-418d-9545-c130df99f1d5 CLINVAR:432062 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2bca4229-136d-4d1f-8c52-ba04989c396d CLINVAR:432062 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1f05c4c-9ef0-43bd-bdc1-e077ded37f46 CLINVAR:11844 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9b8db851-b4e9-4352-aca1-8821023beacc CLINVAR:11844 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bdfc162-172e-48ca-bb9f-ffea3e5a4b2c CLINVAR:160092 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 200ab9c4-e032-4539-a399-c1dbe725fe29 CLINVAR:160092 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 733ae2ab-abf5-40fe-9f94-46d91854c390 CLINVAR:155987 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 442f008a-ddf5-470c-84ef-1db2faa4261a CLINVAR:155987 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f471cce7-a4a1-4197-928c-18e2b857c35b CLINVAR:143826 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 787fcc9f-4ba3-4861-9952-22278c2ac1da CLINVAR:143826 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bccfa314-c1fd-4c09-a54c-9d8252658c44 CLINVAR:136199 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bf2105cf-a72e-44a0-997e-a3984b8e6b06 CLINVAR:136199 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccea4cd0-bdfa-412c-8fb5-7d8c199c78d8 CLINVAR:143524 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6ffcaf75-c738-4463-b22c-ca6bb1908da1 CLINVAR:143524 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f950951b-3cd9-4b15-9bc0-2229c4fa92c2 CLINVAR:155994 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ee7d1ba-7d9e-443d-b124-aa33a111cc9e CLINVAR:155994 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7b7673d-3a2b-4a73-a895-f46f899475af CLINVAR:918032 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ddab2ac-5d27-46e7-9f00-8d79085924f1 CLINVAR:918032 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9e180c9-446f-41e3-a218-37c2536be7b7 CLINVAR:189554 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 21d475a7-aabf-4715-b66d-f62dde88e91b CLINVAR:189554 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90065de9-963d-4eaa-8847-083f3d972f2d CLINVAR:93542 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d79dfe98-6ec8-4af1-80de-fcd29e32106a CLINVAR:93542 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9607afd-42ef-4567-b09a-78b56c3f5814 CLINVAR:95268 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b0b7b1f7-00a1-4527-a2dc-c09f2e582831 CLINVAR:95268 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33ab1814-7124-47af-a7f6-d01f9af5474e CLINVAR:423029 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5243ad6f-ef63-416f-8f50-b06e5d58ce5e CLINVAR:423029 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9a6561d-a41a-4570-9260-53d460548ecb CLINVAR:381549 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3398444a-d953-4f79-9ca7-3f34139a04f3 CLINVAR:381549 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8441e5fa-78be-45e5-b3b7-1cd0b45ec394 CLINVAR:156068 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c8187428-71b5-47fb-9b7b-797131d7af1c CLINVAR:156068 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a99bba8-fbf5-44f7-af27-9b58756fbc20 CLINVAR:7370 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 96d2feb0-8794-40d9-8960-5beb237809b9 CLINVAR:7370 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00c9b295-555a-45ef-8604-ca8eb4b84432 CLINVAR:11502 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a79cb960-c1c6-41c7-a443-0780dcdcec71 CLINVAR:11502 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4feba44-155f-498c-afa9-d7e1b29588f3 CLINVAR:21318 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen caa4827c-a95d-4cb6-9078-25c1746b5016 CLINVAR:21318 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5dddedb-6ec5-4760-aca1-a75d65056928 CLINVAR:206556 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1d02a3df-0961-4be4-9479-e54f04035dfa CLINVAR:206556 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50124c12-1c93-4492-82e0-01e073b7d693 CLINVAR:566733 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0864748e-c52d-4cac-960e-e1629ec9ac28 CLINVAR:566733 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23214999-5a71-4d08-afd6-3319197076ed CLINVAR:133032 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e586cff8-82f4-48d2-b1cb-e850575d8b87 CLINVAR:133032 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 317f84a4-fb82-4daa-829e-30641f3f0671 CLINVAR:133005 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a6403dd5-f317-49ef-b913-22f6f63b70a2 CLINVAR:133005 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07f0d363-2059-4498-b366-d9e40b281a20 CLINVAR:133013 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f38d6718-15c3-44b1-a114-78f71e8d58ba CLINVAR:133013 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 694469d2-7354-447d-ab92-ef7e221a2ec4 CLINVAR:1029908 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9844b7a0-1494-484a-a5ae-04537c9d23ef CLINVAR:1029908 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10684c5d-1870-488a-b77b-dd485ceb8a67 CLINVAR:1120227 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e677ebcc-f036-421c-89f5-f838faf35050 CLINVAR:1120227 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfa33696-83ab-47ad-8118-f79cdbc356ed CLINVAR:933345 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33b9bc4f-ee6e-46e2-8b94-43ca101f111f CLINVAR:933345 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a83e2bc-b81e-4bfd-9ec0-2aa61db31710 CLINVAR:478157 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 74924539-c10d-4457-b853-aa527f558eec CLINVAR:478157 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c04f5cb0-dd0e-4b23-abf3-4684dd384e8b CLINVAR:133036 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dbccdba3-ff9f-46c0-b13a-3b9e738b71e4 CLINVAR:133036 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b036d37-4459-4b7a-a1b2-1bba3b6a0e7e CLINVAR:1019540 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e632775-08ad-44c8-b63d-6f38a4a41e17 CLINVAR:1019540 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 956cdc68-aae9-4a7d-b572-bae7448291cd CLINVAR:132988 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e9254c93-d1ac-42c2-b473-871396356cf9 CLINVAR:132988 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e270e61-6336-4336-b9e9-432d85cd57f3 CLINVAR:133033 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 00f6c400-9180-47e9-87ce-05c9a8c0376f CLINVAR:133033 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ce0dda9-1b83-4a1b-9c3d-fd38e9d19570 CLINVAR:1120229 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 27114df8-bd40-41e2-a115-8fb73ef0bd6f CLINVAR:1120229 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac62f373-e369-4bd1-9ebd-d84a531d39f1 CLINVAR:133025 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 66fdd03c-9bb0-49f2-b735-fb8a49fc7536 CLINVAR:133025 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ade17386-98cf-45e2-874a-e257e4ba3c18 CLINVAR:1120230 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 31d08d5f-f8d2-43f9-923f-ae620749092f CLINVAR:1120230 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baa0105d-f8f2-4215-a8fa-90b55c2f04fb CLINVAR:133040 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0b1bde44-75a7-4282-a954-127a8a418525 CLINVAR:133040 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 934b8c1e-e54f-4d6e-ae09-59cda2d0a44f CA16020940 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f117c346-b8d5-489b-ad84-6410977ecd3a CA16020940 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ad2cd09-ec39-4249-8c2d-0f3db9f05025 CLINVAR:639999 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1d01e1a5-1eef-459a-b4e8-8e926cbef14d CLINVAR:639999 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00099d3b-ed65-485d-92be-b1bd29bc7013 CLINVAR:161377 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9311dd81-94dc-425e-b08d-4e584e55f79b CLINVAR:161377 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d583fb7-c494-4db3-a797-98c2c5548692 CLINVAR:102582 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen df6facb2-5045-48db-be2e-e0d5c11fd4a6 CLINVAR:102582 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a7be1d3-9c39-4d4c-bf43-291b89949822 CLINVAR:102554 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 15463332-f698-46d6-97a4-1c8e9581ad61 CLINVAR:102554 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86697091-30f4-4447-8211-fd9f4f5602a9 CLINVAR:133042 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 627e9889-7670-4b32-ac37-063cd120c398 CLINVAR:133042 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25ea20eb-e412-45d2-830d-29c2dc9b8989 CLINVAR:590447 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f6e487e8-5a92-455e-8669-779b16916371 CLINVAR:590447 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cc29aef-1e84-42b5-820e-7956a3c935e0 CLINVAR:478199 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fe56a688-6fe5-4943-b0d4-9e3822077d99 CLINVAR:478199 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5e98b2d-8955-4430-ad87-b232c62ad3ab CLINVAR:65941 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9483a3ea-47d3-4a08-845f-fb35fb52671c CLINVAR:65941 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be191e8b-fa99-42e9-ad53-c709de4bb585 CLINVAR:133055 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e436ad4b-f9eb-4ba1-945a-6f092edb86e2 CLINVAR:133055 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9e32831-4119-4d30-bf63-290721b384a0 CLINVAR:285857 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 153334b0-6e28-4954-93a5-d15a57d80937 CLINVAR:285857 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da1dd10c-95fd-49fa-a269-f4ac13408aed CLINVAR:133053 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c9bf40b0-a7e3-4761-8472-b06e61b422c8 CLINVAR:133053 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4746b940-c956-4c7e-9032-66f66ddd1f2d CLINVAR:133056 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2f8931ea-0b6b-4f4f-8195-12060008d9b6 CLINVAR:133056 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30ec907c-19fd-40cf-930b-a5ef8793fc68 CLINVAR:654427 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15cefc3c-e78b-4ada-8ea1-d62895303b41 CLINVAR:654427 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b70bac5-144e-4e04-82cf-702de2484923 CLINVAR:478187 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0f8a1a8b-8828-4490-a6a2-48669ca3562c CLINVAR:478187 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 041e95d5-6166-4ac4-9175-71eab5c45fe8 CLINVAR:590453 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8effe486-845c-442c-9470-e81b131f6a4f CLINVAR:590453 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d142b416-3ac3-47cb-b02c-c720a98f83fc CLINVAR:133038 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2de1b59-8061-487e-9646-a5d8f006efbd CLINVAR:133038 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0051600-3e04-4b5f-a9b2-f4da3aedad41 CLINVAR:133057 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f3312494-0390-4a4a-959c-6749ac08964c CLINVAR:133057 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbca9bf5-ff6f-43fb-b250-c574078535f4 CLINVAR:133068 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 515eb779-9aa1-4d34-a2ae-020818cf7f43 CLINVAR:133068 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 892c0497-e9c3-48cc-99dd-994d7d6be8fe CLINVAR:590405 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e90b636a-10c0-4262-a5b0-85fc70c2ee37 CLINVAR:590405 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d516ac8-0bd0-4925-98fc-f2ff17c53b80 CLINVAR:590413 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8de5552d-51eb-4b6f-9e47-3c8d251c2520 CLINVAR:590413 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aebc547d-0963-4518-a3c5-3283ff527d4e CLINVAR:1120228 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75c98ae5-a70b-4f22-b4ab-31c92b8d45dc CLINVAR:1120228 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbd7f636-94a9-49e9-a348-a7aed19335b5 CLINVAR:133060 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6f65bf40-0c0b-4428-85e7-b6573ae154e3 CLINVAR:133060 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6c847cd-a3e4-40e9-863c-d901b02895a5 CLINVAR:102754 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 421f1c61-8434-410f-bb71-cca8356bd8b5 CLINVAR:102754 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cfe5751-d29d-469b-9975-2eeb62e036fe CLINVAR:605 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8862d708-2ed1-4ed8-80d1-e30303af5c2e CLINVAR:605 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7a60483-2fb6-408d-b72e-46ab3d1dad3f CLINVAR:102808 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d129c1f4-cdfb-4d7c-b5b8-05c429a79f23 CLINVAR:102808 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8e1f506-90bb-4726-b1c7-e820380da0df CLINVAR:102780 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 63902da6-63dd-4c07-8020-3c284349bf80 CLINVAR:102780 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc758fb6-3fdb-408e-a3bf-400607f7d4b3 CLINVAR:102496 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e09b9d20-56c6-44af-928c-5cb36f010473 CLINVAR:102496 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59fbe870-ee02-4120-ae41-95f73b4535bc CLINVAR:102484 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0809d785-57d6-49de-8eab-dcc849526430 CLINVAR:102484 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a54cb90f-ec2e-4bea-9001-ebfc5f62919d CLINVAR:102494 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 489379df-2e0a-42a1-8c73-8721afab32e2 CLINVAR:102494 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62031d26-45bf-4416-93ce-b495c7eeb211 CLINVAR:102562 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a52397a1-36d4-431c-b819-9ea0bf671c79 CLINVAR:102562 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 456a077c-5558-4b4c-8cd4-a5de3fec4fc9 CLINVAR:102580 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 55db476e-494b-4734-893f-62d00d21960a CLINVAR:102580 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71eb29dc-dd17-44a7-9d19-2002d03aea43 CLINVAR:102481 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d4ad419a-d834-43d7-b2dc-8c49ec8fb5a1 CLINVAR:102481 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9de357d3-41f2-419f-84fd-8ff225df4da2 CLINVAR:102479 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8d81f931-773a-40d1-a6c0-f38e34863387 CLINVAR:102479 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d753c40d-c91e-4b19-8de5-ef466ad46d98 CLINVAR:102480 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6fa75c5b-3f3d-4f1d-bf51-15ab02020102 CLINVAR:102480 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20927bc3-d8b9-42e1-90e7-c22a9450d302 CLINVAR:102482 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 96b7cfb0-6685-4dc2-aec3-5e757017931e CLINVAR:102482 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed304c33-f597-4bef-aa02-ac59a1c87a86 CLINVAR:102755 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bf18b8c4-d062-4c2d-944f-3ff0afbb368a CLINVAR:102755 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e024e69-b4c8-451f-b442-0275e374d885 CLINVAR:181207 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0825c354-6fd8-4aa5-896a-43e551d5fbd8 CLINVAR:181207 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8dc6978-8d4d-42a8-bc47-f5a5b8e4f340 CLINVAR:181282 biolink:genetically_associated_with MONDO:0008409 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd30c920-0bf3-4250-97d8-9ac09dc80430 CLINVAR:181282 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55b53f44-c6cb-45f6-9459-ca2fed94162a CLINVAR:42999 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 58da4bc9-a28b-44c2-b2e2-e6c43c3aeb76 CLINVAR:42999 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6efdb2c-fa26-46be-8a65-d11fe853e539 CLINVAR:181285 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8608387-1a73-4c1a-b620-0405ec9a5698 CLINVAR:181285 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4254102-6d5c-4d6a-ba23-b5a5830d8fc1 CLINVAR:14094 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d9964e9-90ba-43a5-a2c7-59b9e6c52d1f CLINVAR:14094 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7492e7e6-5616-481b-95d6-4a8cff7cc99f CLINVAR:14113 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cbdd09c0-5a67-43a4-8683-166625d5673f CLINVAR:14113 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6394473-70a9-4513-806d-404d2f81887c CLINVAR:14118 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 70aa2123-6c8a-4a52-a1f6-89f749c5e25e CLINVAR:14118 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2f91845-e71b-45ec-a09f-b1b9b7e14280 CLINVAR:14126 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c3eafde-4124-4dc4-8e2d-db7fd96b2fdd CLINVAR:14126 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8816e4a8-e0e4-4571-a364-f4ec3efd3cc0 CLINVAR:418517 biolink:associated_with_increased_likelihood_of MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0b4dfa7b-3476-426e-9378-4b5f28d8fa93 CLINVAR:418517 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdab1a61-a308-43fe-8373-be0dbf3cf843 CLINVAR:185814 biolink:causes MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 712f1c93-1f4c-47d3-835c-b2a37a079a23 CLINVAR:185814 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c12fbc3-4d2c-4785-a9ed-4c85ae1a0a5d CLINVAR:656751 biolink:causes MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 69867fdb-ee6c-47ec-ba6c-ed8cbc5cbc46 CLINVAR:656751 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12c0eb51-9cf2-4183-898a-4ffb9a515bc7 CLINVAR:186587 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c1f80b41-cca7-4b10-ac8b-6ae7f29087dd CLINVAR:186587 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6aa4f73-2587-4d94-9945-2fcdbbb83d9f CLINVAR:142714 biolink:causes MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b8a52c04-1b5b-4027-bbd7-ea67d1de0fa0 CLINVAR:142714 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da8fa3ae-446b-48e2-abaf-3860d3ef9528 CLINVAR:218342 biolink:causes MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e83555f9-bf89-4786-bfa1-c08329af78ec CLINVAR:218342 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e9214e0-5d11-48cd-a46e-22e98387eaa5 CA397849034 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 286151da-0a4c-49db-9d70-942ed1ba6018 CA397849034 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9baee52f-dc69-4923-a757-7b188198366e CA397832787 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d0bf264-42a7-408a-82ad-3d8bb3209ee2 CA397832787 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f820609a-fb8c-44fc-9feb-9a56aded457f CLINVAR:142158 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 000613b7-7ba3-4d9a-b61f-338548d678d4 CLINVAR:142158 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 521b3393-afb8-4321-94e6-1a8299289c82 CLINVAR:142854 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dec349e2-adad-4800-967a-8836fa5438f4 CLINVAR:142854 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69e7f0a5-a40f-4a78-9fb5-0b01aa6413ec CLINVAR:182933 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 402de6e2-e482-49d0-8588-b2948dccb2a4 CLINVAR:182933 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be2c82bf-7303-4d68-a6de-fcb8a8b1d55e CLINVAR:182938 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b2448cb-7fcf-4927-a4bd-da603e051422 CLINVAR:182938 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f77338e0-32b3-4d57-b51a-d015ca980a17 CLINVAR:182953 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f80ea5f5-bfc0-46bd-9406-86dadfbacc92 CLINVAR:182953 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8c9c9c8-dcdf-465d-8290-5a6472000e06 CLINVAR:187457 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 06dea178-1051-4989-bccf-4f077172f7c6 CLINVAR:187457 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b50f01c2-65c8-4dcf-9be7-c680b2b55c7f CLINVAR:413774 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3e29e69e-d6a7-4de5-a8d5-910700b4648b CLINVAR:413774 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5837b10e-b88d-4d88-99c1-50aba41a2a9c CLINVAR:161273 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 50894fdc-197f-46f5-922d-911c5da868f6 CLINVAR:161273 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1018b61-e1f6-41c1-af58-9e60870cd066 CLINVAR:375775 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ea269806-0414-4c75-9029-c5381b92ce71 CLINVAR:375775 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94f5a61e-b8ae-480b-8266-c8417a1a4650 CLINVAR:252350 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 50a1e5e6-aa22-4010-992e-6ec2641b3764 CLINVAR:252350 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7f1e142-cb53-493e-80bd-9262a100f98b CLINVAR:3734 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4e5f9e2f-8fd1-40e9-9e80-9e676b2a35d3 CLINVAR:3734 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d496a69-d82a-4646-ad80-9cec6a686a89 CLINVAR:36462 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a9f98e71-de84-47fb-80af-602abedd1049 CLINVAR:36462 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d8e41f3-e45a-429e-a989-b13aab4b9235 CLINVAR:252304 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c87a6d8d-e2b7-4ba4-8580-58f0852af489 CLINVAR:252304 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed767d57-a0d2-46c3-9d81-03a0445c194c CLINVAR:3744 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ae257528-2079-418a-ad58-de22f87df272 CLINVAR:3744 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36f5d558-e6ca-4dc1-a4b5-a237175742a5 CLINVAR:183130 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 228de98f-3eb9-4d3a-b92c-61e10a04081e CLINVAR:183130 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a80ce15-f9e5-4a10-aa42-9c62df4f46a3 CLINVAR:252219 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 182e8463-2bb1-4570-a740-f5037e712580 CLINVAR:252219 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e838c77-3758-45b4-bde3-e7dca205de58 CLINVAR:252188 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f3dfc6b4-3aa1-47d9-8559-b6595205e533 CLINVAR:252188 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb639907-7cf2-4a54-8a5e-5a187a1c5c60 CLINVAR:3689 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 256d9359-9436-4025-aca9-d596960a8a22 CLINVAR:3689 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86e86574-8fce-4d35-86e7-2d6981437406 CLINVAR:252136 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc3fa1a0-4acb-4c89-8d57-ddf93604e97e CLINVAR:252136 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebb42bae-4e39-49fb-bc74-6c2892c60eb2 CLINVAR:252135 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 96323221-6765-4926-a75e-5d31e89d0cef CLINVAR:252135 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f4c28df-bc89-42b0-a9b0-80106cb717e4 CLINVAR:252083 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9142cada-0564-4888-8ec1-174828545c7d CLINVAR:252083 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eba4c12-597d-486a-bfa0-1aba27350182 CLINVAR:161264 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9440da36-7ff8-4bb5-9324-dd10ffd263cc CLINVAR:161264 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52000099-0d95-4d01-90e8-09a8e0203ff6 CLINVAR:161290 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 20a3d29d-03a0-4a3a-8d5d-ac1e554fa339 CLINVAR:161290 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e39652a-1f7c-45d7-b18d-0501bc9e025f CLINVAR:161271 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6405387c-ed52-4169-b506-623a044c80fd CLINVAR:161271 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 746fe4c6-c155-46e0-b5a1-01ab8fc972a4 CLINVAR:183120 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07412d2e-c2c5-47e8-a465-a8a07c1e0d6c CLINVAR:183120 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c8a006c-c83c-4a73-82b4-c1ad6222fe19 CLINVAR:251783 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ee861b2f-f6c6-479d-892d-844b98893eb1 CLINVAR:251783 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1067d110-d09a-4d02-9cab-d21eecc36159 CLINVAR:161276 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 46aab679-00ff-4bc5-8a94-c4fcc46d28e6 CLINVAR:161276 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a277a2e4-d971-498b-842c-241aa2d8c466 CLINVAR:36453 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2cc194c7-e165-425c-84b3-cb05fa326450 CLINVAR:36453 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb9cddf7-71a9-4c94-b6a1-98aa695e4385 CLINVAR:228798 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9a222561-94c1-484a-8e8f-76e49d9e65d6 CLINVAR:228798 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4209e6a-4014-4dc7-b75c-9208ab5b3c61 CLINVAR:3746 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f6cff245-432f-4f54-bf8b-bce02b900317 CLINVAR:3746 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4a4992a-5adb-4626-afbd-4cf0980f6f50 CLINVAR:251706 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d1c5c3f9-8169-4be3-83d0-1c086b4f94ae CLINVAR:251706 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaa904e9-e8b3-478a-ad06-3d84522af483 CLINVAR:36450 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4281f689-05e9-4d5a-bf37-58797b473275 CLINVAR:36450 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fffd52d-a51d-405c-96ce-56c94905c0df CLINVAR:161282 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c153f7ef-82b4-4657-87f2-9da78ecb2c5e CLINVAR:161282 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7ad258d-16a2-4e2b-b6fd-712d8339541f CLINVAR:251517 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 798657ca-00eb-47a1-8987-6ac26b55da99 CLINVAR:251517 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2a47c0a-173d-439c-86fd-cd1b32d65d9b CLINVAR:161281 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2d7b5fc-2a43-42d8-a746-c990d297214b CLINVAR:161281 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dcf3789-bc06-418d-b631-111521488e1f CLINVAR:251603 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b743ce7c-c115-4d40-b3b4-bb56720f3c1b CLINVAR:251603 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64da365d-9d99-4f36-a821-c30dbab20057 CLINVAR:161268 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 64682d3d-5bee-405b-a38b-db24057a558e CLINVAR:161268 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8708fd7-6dd2-4359-b3a5-c91d19675c62 CLINVAR:251106 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 768e9e56-1124-418a-8b80-9e2c74ee9ab4 CLINVAR:251106 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9447ae4c-af94-420a-8ba8-ec6f24ad4ae8 CLINVAR:161287 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d761907c-b195-494e-a1f8-72da889c72c1 CLINVAR:161287 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da519fc2-5fdf-40f3-bafc-8aad5d91cac5 CLINVAR:161261 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 27931ea3-9a9f-43da-a652-416e306838c5 CLINVAR:161261 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1fb1bfe-950d-4099-84c7-966ee6da3ca4 CLINVAR:251422 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b2d9a7aa-43bf-4b29-86f7-921c9c100a5d CLINVAR:251422 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6862ff78-3ea6-4ef0-a799-c3bb0287388b CLINVAR:251400 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2444266c-dc35-4a0d-924b-ecfb4c44deb5 CLINVAR:251400 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39d88c78-8c9f-4986-9b28-160b6a0c6436 CLINVAR:225402 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b97f132e-bd22-4ede-940a-29454d73e9ee CLINVAR:225402 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11d37cf5-64f0-443d-8965-342b3b0d12a1 CLINVAR:251162 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7f6ebd34-6912-4216-b845-e810dfe3fc62 CLINVAR:251162 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbe71734-d622-4a6b-a2c8-86d763dbdd20 CLINVAR:3736 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec05772a-c033-4c38-8c6f-2b3c3f1e9995 CLINVAR:3736 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c0d1a58-8860-45e1-b785-fa9671968110 CLINVAR:161269 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5ee15de6-08b8-41ce-ae78-1c127d6ae3a1 CLINVAR:161269 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60855d3a-f739-4363-b355-05158d4fdb12 CLINVAR:251100 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c2a4d28d-9a56-4384-8c70-b2f5ba205645 CLINVAR:251100 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d7de11f-c2a3-4315-b0ff-f80c4950426d CLINVAR:3685 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2ff779a2-bf82-4728-a4ac-7b988dcae124 CLINVAR:3685 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 808bfbf9-58a5-4fcb-9435-7c26b9e19c17 CLINVAR:161289 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 60746add-4c9e-4828-bbdc-87876fcc081e CLINVAR:161289 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04c1edf8-0ecb-4bc2-a5f6-b8bb79119be9 CLINVAR:251034 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 98955d1b-c573-427f-8fe0-d02d85aef919 CLINVAR:251034 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5953d696-0cd0-4d83-a384-7e2fcbaf59e6 CLINVAR:250968 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e1e37ca-f8ad-4c20-844c-309bf4e5ad3d CLINVAR:250968 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82128362-5e75-4230-99a3-86af3ebeb517 CLINVAR:102610 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2c2de782-630f-4283-95e2-f57b14863d7b CLINVAR:102610 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen debdd3cc-0eed-4375-abda-a14c656f0144 CLINVAR:102627 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aec1252d-1d52-4bf8-b830-577f22e439a2 CLINVAR:102627 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41dfff10-a1c2-4031-9c34-99e58485d076 CLINVAR:102766 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3eaf18aa-da12-4bbf-b67a-3cb454eb8cda CLINVAR:102766 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06350e7e-5980-40f0-b11f-38b52c8a6451 CLINVAR:102488 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2b18cf74-200c-41f9-8cd0-fd6399d62074 CLINVAR:102488 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46b06291-813d-4442-a07f-9e1726fe9234 CLINVAR:102521 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 721a4ac9-b224-4869-b892-01df39773af4 CLINVAR:102521 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adda6464-2e2a-4bde-b5c2-96f5a08c84d8 CA16020794 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cf7df95c-c475-4d42-8d5d-cfb60f1671b2 CA16020794 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c59b5ca0-9aa3-447d-862a-d80e36529f82 CLINVAR:102600 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 126d17ab-7bf1-4f0a-9fc5-3610d34ce46c CLINVAR:102600 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 851eaf55-2fd8-4310-9f6a-221e3542dca5 CA16020963 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen da79ced3-0db1-4379-b219-4924234c2417 CA16020963 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e311bd01-d31d-48de-b60e-368d9851d556 CLINVAR:556817 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a1587b08-6602-4cac-95da-42375a65c3c3 CLINVAR:556817 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0362aaed-8677-4988-98cb-d0d24dda56d8 CLINVAR:14121 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ddd6ea31-1c1f-47d0-958a-9be5a7a0eba5 CLINVAR:14121 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f0f02bd-2519-4983-b1b8-eddd1f865801 CLINVAR:214322 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f667933c-1184-4868-b841-fa30b6d8ed4b CLINVAR:214322 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec33bbaa-89e8-4783-978d-f7e4c6e774fe CLINVAR:496427 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8fc2c64d-cbdb-4215-99a1-bfabf87b3b6d CLINVAR:496427 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f3330d0-401c-4554-8a2e-972762f985dc CLINVAR:504502 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 76c4f1e5-fc24-4124-b592-78b18f0ce51f CLINVAR:504502 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02f1a450-e8bb-4a16-9631-82657d25ac8c CA8623025 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7adada69-554f-48da-a6c9-5d9996f95bf5 CA8623025 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9185c5d3-95de-45a2-901e-8aef2c332d11 CA772541579 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c5df8936-643a-490a-b136-2efc8b612abe CA772541579 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f527b02-d8cb-473a-acc3-f0ab5999c873 CA290954030 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 88ce9594-1f77-4399-a0af-6eb06dd014b8 CA290954030 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b4913ff-8868-4abf-b037-5a533ac14953 CLINVAR:627288 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1bb61f27-709c-4213-a208-5385323908e5 CLINVAR:627288 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d8b38cc-6adb-442e-95f7-a29a387132fa CLINVAR:13568 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 69173a63-53dc-40ed-b257-bb13e0e3e95b CLINVAR:13568 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ae6994d-ddac-4ba6-a26b-c3b3c4fec76b CA399799766 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3cd6b376-9c73-4ed8-bb51-baa4d608743e CA399799766 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45af6400-5e81-498f-909e-34e78ed6ac61 CLINVAR:695644 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c0af662-f96b-4a68-bba5-ade3f08213a0 CLINVAR:695644 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92ebce6e-0181-4bf7-8a52-9476d54f5cb9 CLINVAR:13569 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 92234d2d-cf49-44ac-af6c-220b279eb78f CLINVAR:13569 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55221239-4b9d-411b-9827-c12ec21b49fd CA291224490 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 43735464-c7dc-4ef4-9758-bddb54906ca3 CA291224490 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c541b4d3-9fcc-414b-9f2d-8826179e57fa CLINVAR:627052 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 23949847-fd00-4be3-b8f9-30ada4680aab CLINVAR:627052 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f64f9d7-eaf4-41e5-9bc6-653c11ca39a7 CA8602943 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6bcdc363-5427-459b-af12-bbc11a05c6a3 CA8602943 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa10a624-cc88-484e-aba4-3551ab1545de CLINVAR:977130 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cd924b95-f9b5-451a-811e-6567959df433 CLINVAR:977130 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96741979-0fe5-4ed8-a5ba-48a0d2440692 CLINVAR:13555 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e0948c30-5694-4a0e-80b7-70a2f4569cb9 CLINVAR:13555 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24af23e9-2559-49d1-8eb1-da04b4c6cc96 CLINVAR:13553 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 59b85597-f688-429d-a7fa-08143c355454 CLINVAR:13553 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80e80893-d4a5-4038-b35c-8296509f94a3 CA399805518 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6c1f1fd5-ef7b-4fea-9145-66b47965df13 CA399805518 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc141b16-94bc-40ee-863c-115578da010b CLINVAR:977129 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 28ccf04b-67db-4aea-ae2f-fc3ec9123058 CLINVAR:977129 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf81186b-9b3f-4082-8c6a-9264e59777fd CLINVAR:323865 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b000f9eb-d463-4616-a098-0712e26b2aac CLINVAR:323865 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eedeecbf-2a2b-4130-8dc2-5518a6f80209 CLINVAR:1210206 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c3c283a3-51ca-42c0-9765-197f042c102c CLINVAR:1210206 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e34fc852-4eb5-4092-868f-e2d0a3a6d893 CLINVAR:556718 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 926f634f-56ec-4a91-bd30-50d6de51657f CLINVAR:556718 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b559f3d-bda4-4d2b-930c-a4322efee3f9 CA915940722 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3eb5881f-ba39-4f8c-896c-9ec902548cde CA915940722 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baa6044c-a485-44fd-8067-d4b85cfd2b90 CLINVAR:1210169 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ce70dd4b-734c-4751-9b76-e9533bbef2f5 CLINVAR:1210169 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3666074a-e82f-4b15-b2c6-bb28e0886233 CA400023704 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3e79fc5c-eb68-423b-8ba4-c9b05489606e CA400023704 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d189d24-6d81-441b-9c19-6dad55420c9a CLINVAR:1210171 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 40e5bfed-cd1a-4981-8698-6a2be4f043ce CLINVAR:1210171 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30c602e7-5941-4c45-bad1-8cff6b82aafb CLINVAR:1210172 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aa9c9746-6e2b-4222-a1fb-19efe0710160 CLINVAR:1210172 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e620098-1c11-4492-987d-2ef511e68df6 CA915940725 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b1b6705b-3074-4f94-b3e0-c477ce55252a CA915940725 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6aaf3a50-28d2-4040-8583-69b19b15ba99 CLINVAR:1210174 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 007896b2-43cc-4959-bfcf-d98835c83b13 CLINVAR:1210174 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f991071c-726f-429e-be1e-2da24e766f90 CA400023344 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 15904c8e-cd2d-4d7b-bfbb-e6dbdd9c5f0d CA400023344 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2499bfe2-4b41-4384-acf3-b05bdac29d30 CA399805506 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 566800de-5b08-4c69-bb3b-46f50d714215 CA399805506 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a5249ed-e886-41bd-afa5-082acae55944 CA400026292 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e259dda2-a347-477b-9e30-0942890488e6 CA400026292 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4707c1ef-7ea2-442e-bf44-006f4ae5f648 CA915940376 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 24490c20-d675-425e-8227-3fa0e8d751f2 CA915940376 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e661a3cf-e856-4dbf-87a7-1b1847e29b67 CA915940375 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bf87eebb-7de5-4179-b361-c359c5fd4d96 CA915940375 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be5b80cb-af11-489d-9a4a-95326caa1884 CA915940251 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4022af0e-2538-4d5b-90d5-cce0d41d26d6 CA915940251 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b767a3a4-8566-49b9-90db-c38661824fce CA915940723 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dde8218c-3cac-4ef3-a051-e69e43073483 CA915940723 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e70e84c8-043a-4010-8b45-861566bb1daf CA915940724 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9e75842d-ca36-43ea-98b2-dd2c076bda6d CA915940724 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f166a064-e268-4a95-8c72-fd4cfaa8bccb CA399805152 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c1f88ab7-18e2-4b8c-9334-284ef1c790ea CA399805152 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aab5b855-71f0-480e-8c75-e0a64434c2ee CA399806036 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c9697556-c78b-4a5b-ae95-522f31545951 CA399806036 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39972930-125d-4682-b4cd-870a2122c128 CLINVAR:627239 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8243bad9-65b6-45ae-95a7-0262bbd81e16 CLINVAR:627239 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03d6c632-bcd4-43ad-9534-5b3f0c575cb1 CLINVAR:2902 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 011f40a9-8f24-43d6-a0c9-eccc054a0da0 CLINVAR:2902 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6664b9b1-7c01-4690-b2a6-bcb2f1a5b848 CLINVAR:631773 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2010c627-6a27-4baa-9d24-60d6f6a0652a CLINVAR:631773 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 809d8536-eb02-44a6-8020-4e5a4295ba01 CLINVAR:977127 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e36201c5-9de6-46d5-9f2b-06352035c463 CLINVAR:977127 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 652b0b0f-e1c5-4177-a0f3-0f3124d44ab5 CLINVAR:971253 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a7184987-2a76-48a5-9ce8-0f98f9f318cc CLINVAR:971253 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08526fcc-4d19-4c01-a0ca-131f70bd2755 CLINVAR:627292 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c8497355-be3f-480a-aaeb-dc38b520a6b1 CLINVAR:627292 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44414e78-e957-4e4a-a10f-06c7c4ea3ed6 CLINVAR:1210204 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f9db9e65-37dd-4a79-a722-69652dbf37ab CLINVAR:1210204 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 070b6f4e-567f-4808-bf97-d6e75e94da12 CA399803781 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5600620c-0bd3-4b4d-aa36-5400a83a1410 CA399803781 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a986b31-7daf-4c19-90b8-4a20bb1fff21 CLINVAR:458368 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 43d316de-9658-4ad4-a132-b16dfd39936a CLINVAR:458368 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a38015cc-d289-46fe-92d2-1d889c00d580 CLINVAR:627093 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7eadd0da-3883-4e1f-bdfa-63672010e014 CLINVAR:627093 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75fab634-d133-4786-854b-cebd5924c5b4 CLINVAR:977128 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 87f16b3d-6b40-4af6-bee8-204ba89cd4a6 CLINVAR:977128 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4641e48-eded-4b4d-a30c-f5babeb4aeae CLINVAR:2889 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba8dbc6a-021f-4b5d-b3e4-e442aaa303c1 CLINVAR:2889 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0835acd-14d6-4589-8c78-c2ab008be479 CA400033218 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a73b54ec-5ef7-4421-b0a7-1ab0cb08e52b CA400033218 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b17e10e-0136-48a2-8cff-6f6fbe54ad56 CLINVAR:1210209 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f03fb542-7057-4566-90c4-5045fdb173e2 CA291224645 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 901e3bab-907e-45f0-af55-c9fdb629b49a CA291224645 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 102c3585-8721-4a4f-98d9-2059624eee18 CA400023604 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 775ef944-f0f6-424a-ae10-fdc58147259d CA400023604 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccdbe15f-04d5-441b-98f8-09a48eaa37ab CLINVAR:800945 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e73b28a7-4db2-49a1-a39d-29d6f0ffbdc7 CLINVAR:800945 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e2c6d76-5969-4ead-922d-e01f4eb7b2ba CA915940593 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a64a7073-5f6a-4925-bb60-9f2dbbf28ea9 CA915940593 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f574bf9-a9e2-4d9f-8ab8-2ef48f9d7d84 CA290947484 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5c53634b-8b25-4576-a70f-404690ae26da CA290947484 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6db23cb2-073b-4b22-9555-3d9c602ac457 CLINVAR:1210180 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee71ec8b-2869-4bf9-9208-96bae2c978f8 CLINVAR:1210180 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92c8a31a-8a49-4c35-8865-0ac8c055fb1b CLINVAR:1210181 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8b6bb522-92b9-44c6-998c-6d9766c037ad CLINVAR:1210181 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1118eeee-32f7-4420-92b3-b06b247b1cbe CLINVAR:1210182 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5b93907f-b48c-468e-bda4-85af3a2257ac CLINVAR:1210182 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07ce6d2e-d533-4705-982b-069b2f63305e CLINVAR:1210193 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 96bc2ae0-2b39-4b6e-8c36-0073077b64b7 CLINVAR:1210193 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10ec73e6-6328-4ef3-8794-b19fd8003547 CLINVAR:952998 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 01013140-42fc-452c-a669-5f5711bb8215 CLINVAR:952998 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d696d6a9-be9d-4243-8a71-6473d87dde9d CLINVAR:953028 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0170f16c-1687-4fb1-bd24-f03252b7d74d CLINVAR:953028 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aaacc73-65e4-4e66-a8a6-6c1de61ca711 CLINVAR:953032 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0b18a849-6e22-4577-a269-09516588a613 CLINVAR:953032 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcf873da-17a1-497d-9fa2-63de723dbef9 CLINVAR:2903 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1b94ce3d-52a2-4454-aece-c919ba347efc CLINVAR:2903 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39a1e83a-6fe7-46aa-a301-a3f7abd0c936 CLINVAR:627296 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f3c2592c-42c8-45a3-aec1-7ef5ac514048 CLINVAR:627296 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7288e17-8953-4faa-8437-105a372ce4b1 CLINVAR:953037 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 848e3bf9-e039-44de-a57f-520d389cac95 CLINVAR:953037 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b421039a-03b0-4b3a-bf69-7bdb2f16a1cf CLINVAR:13564 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0035fe05-191d-4521-b45d-80cec7bc7821 CLINVAR:13564 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ee7e2e1-3f90-4920-a929-4bf2752c04ac CLINVAR:953016 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ccfa87c-6fe7-4aa0-b2d3-ad4f78cef350 CLINVAR:953016 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04875f97-c9a2-4b68-a160-6929e6bbcdbc CA8623361 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ff9cbecb-1120-4ee1-98f8-c6a29fe4538c CA8623361 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5aa2cc06-99d1-440d-b7cb-9b8e9c1b350d CLINVAR:953046 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5614a731-52d4-4524-baeb-386a47e2b739 CLINVAR:953046 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34910dd7-2f4f-4070-bc1f-984f35d5bb8c CLINVAR:977132 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 520664b8-45d6-40d9-8fde-fd657c2d94ab CLINVAR:977132 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddbd2d4d-050e-4411-9923-e50b6231db49 CLINVAR:1210195 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 59f8d153-607c-4ed9-bcd4-a8efbd0822cb CLINVAR:1210195 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba3a8cb8-562a-4b52-a0b5-29b4e59e2489 CA915940296 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 754485e6-96ce-4e74-9a19-8c9dbbfe1c15 CA915940296 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9c3f88d-a943-49cf-be3c-b464bcff6091 CA915940787 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6098182d-3e76-47ac-8d69-f288563142d5 CA915940787 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f38895be-6795-4a74-a2cc-53975169b851 CA8622954 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d7978ee0-c027-4167-b304-96c57838484c CA8622954 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99f8c7aa-bc04-4005-ba31-e717805b5fa1 CLINVAR:850886 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d867f441-a9a4-4262-9f45-4a7a0981ad14 CLINVAR:850886 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe596492-480d-4038-8414-d99c11837f5a CLINVAR:1210199 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen af81fca6-b301-46a1-aefc-e57c7a457559 CLINVAR:1210199 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b6e0560-1731-46bc-ac6c-10402fae5a74 CLINVAR:1210200 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2e2ac8b9-a0ec-4556-9b95-45cc5707cbcf CLINVAR:1210200 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 873e16cc-acce-4091-8a7f-79436b03bc2c CLINVAR:2898 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3989b38a-6b24-4c33-8ff1-08783bd5ad69 CLINVAR:2898 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bd9a530-450c-4bf8-82d5-97a8c8f6020d CLINVAR:2894 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 84efe1a9-8bdd-4d29-a3b1-7feae73d6010 CLINVAR:2894 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a29dae1-d2e1-4612-8590-68ab3e3b381c CLINVAR:854735 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8fa862d6-81bf-447f-b9a5-b46573f24810 CLINVAR:854735 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75878bd1-e9a0-4ab7-9ad6-089328b5979f CLINVAR:13567 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dfe7313e-450e-4f8c-85e8-91ec654b7bac CLINVAR:13567 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a8d49cb-11f2-4774-8a7e-5d220f16da97 CLINVAR:1030781 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5316d90a-e216-46ad-8d39-e4ad1709f544 CLINVAR:1030781 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aca9854-a40c-4e7c-9178-1191abf3ebff CLINVAR:627273 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5efecbbb-ba05-4405-8ffc-664c184eeee6 CLINVAR:627273 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5928ef29-46bb-408a-91cf-75dc5218bdc2 CLINVAR:1210210 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f82bdb79-aaf6-435b-a400-27e25b9249dd CLINVAR:1210210 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05b92283-4a13-47a6-bd04-f0aeca193e02 CLINVAR:323569 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c4e221ba-435a-413d-ba50-b5ef95bbfb4a CLINVAR:323569 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40f2723c-e611-4a16-ac44-53607a53693a CLINVAR:2899 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5af80841-eaa2-4bcf-ab9e-0db92a339745 CLINVAR:2899 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95db49a1-eb72-4e51-8c2e-0116655b0126 CLINVAR:181368 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 008a2193-c1e6-4902-8574-d471c880a079 CLINVAR:181368 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b34ad2e4-3a9c-4173-baf3-31bc8f09b247 CLINVAR:42826 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e1c4e7dc-9809-4a20-abe0-b198029b89b3 CLINVAR:42826 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16968819-75fe-4a1e-b654-5c2cd1a769be CLINVAR:43100 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a7a4fdec-c8b2-4fca-b99e-fbac517a1741 CLINVAR:43100 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3aff4b2-d1bf-4068-9c46-cc19939226ef CLINVAR:181195 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 51ee0037-330f-48ec-ae1b-00dddf94c4fc CLINVAR:181195 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38349023-0916-40e8-87ef-14895c7a3be4 CLINVAR:217468 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 31936e8d-3f8c-4f86-bb26-0bb4b521d43c CLINVAR:217468 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f091a339-a2cf-4b41-b6c4-e080f7ee0a4a CLINVAR:164289 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a5e0c8a-ae57-4493-bcb4-c4528b66d155 CLINVAR:164289 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43d28307-43f5-4f6f-9cef-629bcd5972e7 CLINVAR:14093 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1ecb345e-a7b2-409b-9fe5-e880af81c7dd CLINVAR:14093 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c35aa3af-7f9c-4151-982f-71619fb2c099 CLINVAR:36638 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3e17f64e-c7c2-4c13-9e28-6961cea21247 CLINVAR:36638 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10d067e9-d41d-450d-9ff9-4ac706d6c11d CLINVAR:42818 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d23469a4-accb-4481-a6f0-8bae3b4369d6 CLINVAR:42818 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 213bef27-06ac-4df5-96fe-7fe7ca929066 CLINVAR:36637 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3d75d89c-3e7f-49db-b6b1-9046fad85339 CLINVAR:36637 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b79495d5-488e-4313-8cc8-08abe0fb2e2f CLINVAR:133165 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b5556e21-a33d-4fdd-b143-d733ca3fe2f4 CLINVAR:133165 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd48edd0-b9d2-4f1b-b933-3f2a26d69ef5 CLINVAR:374974 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7f2af6e9-585f-4a86-b3a8-9c3268bffd40 CLINVAR:374974 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d5942ec-57e7-4768-8fe4-47232a103cfb CLINVAR:590517 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 268c052b-41a8-4e2b-a2b0-194e61394d1d CLINVAR:590517 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dadbb22c-4b02-4e35-8a59-6f88a1742f21 CLINVAR:133168 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e36294e4-ad95-4c3a-9705-2269161eb365 CLINVAR:133168 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e83b234c-7721-4f23-bfc3-3cda582c662c CLINVAR:590482 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 19837578-0c9b-4ea8-9fdf-99710afef515 CLINVAR:590482 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8309968-de18-40fb-94b9-a3c57f853045 CLINVAR:1050940 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b433de0e-c333-4732-bcfd-f7c0c42f0f5e CLINVAR:1050940 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36b32bff-476f-45d7-9290-ea2c93f64b30 CLINVAR:808527 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 17babea1-3cff-4711-b42d-6143a3e37a52 CLINVAR:808527 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d13bbb8-3746-41fa-83a5-0169df98c2d8 CLINVAR:133146 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fec128f8-0c85-4017-be1a-804679dd8094 CLINVAR:133146 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60689a0f-d52d-4c00-83a9-7c7ee3493b14 CLINVAR:889434 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b91bc7bb-1724-4457-b6aa-2edcbba53624 CLINVAR:889434 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e77d336-de0e-46c1-8255-0e179cd577bc CLINVAR:133166 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7917fcea-a2f6-4e14-95cb-e4cfd8537b40 CLINVAR:133166 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5946bfc0-c0b9-4e78-a001-928b628e6ea1 CLINVAR:478249 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e992300c-7663-42b9-a107-c1cbe860c1bd CLINVAR:478249 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba9a334f-ba78-4f1c-b257-598cbb3fe8d6 CLINVAR:1210307 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33ef11b7-e4f2-4e09-906f-909f1b9e73c8 CLINVAR:1210307 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39efd621-3345-46bc-a84c-aa92f4b2083b CLINVAR:1065119 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 26754c54-f0cf-4db6-b0c1-ef04608758ed CLINVAR:1065119 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f74225c5-bd3a-4ac6-8576-d422d859c496 CLINVAR:590575 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee235168-3692-4770-bd35-e9e4c84c5fc0 CLINVAR:590575 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f71b6e69-1178-45ea-a518-a708a0a0961e CLINVAR:65968 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7001d904-14b0-48f7-8559-0b9e754c8963 CLINVAR:65968 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 608e8412-ca95-4a38-9072-09e997e46a78 CLINVAR:567662 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3d35225a-ebdf-40db-ae76-1b605adee381 CLINVAR:567662 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 531a7145-a92a-45c6-9975-82953098bc6b CLINVAR:590454 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c0656fe-d638-4848-8b58-2066d9e44f69 CLINVAR:590454 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab0db46c-87e0-4429-85ed-5e947f646fc1 CLINVAR:590556 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73cca5af-7e5c-4180-ba25-5910955afa8e CLINVAR:590556 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b6b1db5-203d-4f5a-a413-277ccbf4021b CLINVAR:133185 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen df66ba68-d420-47d3-a0f0-4a389febf2f0 CLINVAR:133185 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cb02c9e-cb9f-4cf6-b374-37a0e5a2d742 CLINVAR:133179 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb715885-a9a2-4e41-ac78-3c2ee70295a0 CLINVAR:133179 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3911834-7e84-455a-bf0c-5f14e1b7be05 CLINVAR:167614 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b1ee6c4-e392-4089-b3ca-391a3227e2cb CLINVAR:167614 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca1ef929-7815-4348-916e-f4c201c9443f CLINVAR:133081 biolink:causes MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen af8cbff8-6e4a-440d-8cbf-25dc7983706f CLINVAR:133081 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7088ea64-a7a9-4387-99bd-a85e77ba22c8 CLINVAR:590580 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e08af5b4-75ec-4ca7-a68c-196b27fed931 CLINVAR:590580 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 477e705a-1d2d-4883-8012-33af9bc2d34b CLINVAR:1210316 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f3c04cee-9420-489b-b1f2-bbe0b12c04e4 CLINVAR:1210316 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 397f550e-376d-4733-a6e4-3a86b14ddee2 CLINVAR:1210317 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c19c3cff-66bd-426d-beb9-195a77e6c26d CLINVAR:1210317 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e41c5ee-0934-43a0-9cb7-52f6d8dd2301 CLINVAR:133172 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 74f8fdb4-5313-42d4-814d-915437e6f662 CLINVAR:133172 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8d2f28c-5f2b-4f34-a4ae-3a971a909923 CLINVAR:133126 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bfbcd5e3-8eb5-4c40-b7b9-4dc4c26638a1 CLINVAR:133126 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6363f6fa-5011-4d3e-a7cb-a8fe2335d0bd CLINVAR:133018 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5dd7455a-6d2a-493e-a76a-7714f2014dcd CLINVAR:133018 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7381e7b-b98e-4628-9da6-58601c2d3ee4 CLINVAR:133124 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b0c906f3-d19c-42ad-95e7-dca4501a91e8 CLINVAR:133124 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d92bdb00-5bd5-476c-9074-ef7ecbc1382b CLINVAR:1210308 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 09b20b2f-eb08-4c9e-b3a0-b42b7fd6ef71 CLINVAR:1210308 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9890f21-9b63-4b5d-a9eb-2715f2c6dc37 CLINVAR:133135 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c3a84f1c-0ac9-42f7-bd0f-74c07d0ab884 CLINVAR:133135 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1e409ac-47b9-49d0-a0e0-dc19aa7ab06e CLINVAR:1210309 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 551ce187-8335-4bb1-97f5-803d5c942117 CLINVAR:1210309 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dd24f4f-fb27-4d1a-a4c0-beeb1af14748 CLINVAR:133145 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76c76df9-21f6-458f-b910-806fdfb6c61e CLINVAR:133145 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 912dfb12-6aef-403d-91c6-0848469735a4 CLINVAR:133150 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 750aef4a-eac5-45d1-b1e3-4d853d1a4e66 CLINVAR:133150 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25570f77-dfa0-42f6-ae2c-31f2c5477986 CLINVAR:1210310 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab779cf3-d91c-4a6a-9391-47565e946dcd CLINVAR:1210310 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d0f2c46-ce3d-41d0-95f4-c56025600355 CLINVAR:1210318 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1a20ed23-6fff-415f-8788-038b5e2c380e CLINVAR:1210318 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4bfa886-7f68-4b63-87bb-e6a5d410bc79 CLINVAR:1210319 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d9b2c418-2f45-4458-8559-25ebba8c7fd1 CLINVAR:1210319 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 669a25ae-5398-4830-8add-bd73d0f5d789 CLINVAR:133158 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 253769da-a16a-4bd7-8f63-1b6297c6c6e2 CLINVAR:133158 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e22acc25-3bb0-4b9b-a600-e33fd3b0b166 CLINVAR:133161 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38a93128-9cec-4b89-9f98-7411da35d2f5 CLINVAR:133161 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08dfd774-6db8-473b-a51d-eebeff9d3aa5 CLINVAR:1210320 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c707bddf-fae8-4cbb-a5c7-f1cd77384a82 CLINVAR:1210320 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ca3385e-3ff9-4c80-a826-8273d01af410 CLINVAR:133157 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 151e6281-349f-4cf6-b8c9-bd87ff891d40 CLINVAR:133157 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86d72a4d-26b2-4f65-9bd7-e459c880e7f8 CLINVAR:133162 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7a2d6035-f792-458c-b6ff-c88f6db6bf9b CLINVAR:133162 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02c4c731-a37e-4996-82db-2f6126ec6e4a CLINVAR:133159 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f80ba11a-5568-49cc-88ac-9314ebfc8473 CLINVAR:133159 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7285f7fd-3ec6-4823-807a-21737264b3aa CLINVAR:133017 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8f6b8890-abf3-4024-a0dd-76652fbed731 CLINVAR:133017 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52a3c88b-cbf6-4a66-9d75-46e4f30bde49 CLINVAR:1210298 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 24c2b4fe-cddf-4769-ac80-0383b2ae43b4 CLINVAR:1210298 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52a0dcf2-b36e-4d59-a448-e57c20812033 CLINVAR:1210299 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed60c172-4703-448c-878b-ef945a0ed778 CLINVAR:1210299 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc531ab4-2fb6-41df-b668-8a465472b1ae CLINVAR:133156 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6ffc0f9c-8973-4a7b-8a16-820541037483 CLINVAR:133156 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98e2ff3f-dce1-46d3-b16f-771a863c8dd7 CLINVAR:978526 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6f8f7946-959a-48ff-a0c6-404b87cfc96d CLINVAR:978526 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9901e199-c0b6-4f65-9309-2b7a47a83e14 CLINVAR:1210300 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen afa13a61-f53f-438a-b204-b459aa3315ff CLINVAR:1210300 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43520f87-6cf1-4dfb-96e6-f3c411e582ab CLINVAR:983140 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 65693370-a6fb-4646-a56f-8e751699b16c CLINVAR:983140 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff4e248c-1caf-4cb1-82c9-e58b219c766f CLINVAR:133104 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 10f1be1a-d330-4c1c-9798-80286de7c494 CLINVAR:133104 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92e8393b-5439-4ac8-a1a5-9b30c0255463 CLINVAR:1213684 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b72d4b9-079b-4a6e-8fca-c3ee04678263 CLINVAR:1213684 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87a51ce1-beb5-446d-98a2-11b6bfd43e79 CLINVAR:1210301 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b1fe95a6-c0f9-4292-b4fc-67cbfd5ba97c CLINVAR:1210301 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b26e68fc-9fe3-4064-b06a-d88a3868aa48 CLINVAR:1210303 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81763ff3-b98d-4888-a248-14cf0128890b CLINVAR:1210303 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42c8480b-25e3-48f6-98c2-67caec3e0fdf CLINVAR:1071064 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 98caa422-7a91-4adc-8fbf-bc55edfa79df CLINVAR:1071064 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7c48ec2-d254-48eb-8add-e0b2d3c208df CLINVAR:1210304 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b2b72ff7-ecfe-4dad-856e-1bb41721eeda CLINVAR:1210304 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f45e5b9-628d-4810-b35e-5164986936fd CLINVAR:1210302 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 141d1435-401c-43f0-be3d-6dd525286760 CLINVAR:1210302 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac76ae47-a2a8-47fa-9db7-a5842f10e75e CLINVAR:1210305 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bf25921f-6060-42f7-a400-b65fc03f5012 CLINVAR:1210305 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daa8fe68-c3c5-4032-bb9c-eb021cd688e8 CLINVAR:1210306 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc54a43c-498b-4bcc-b9a1-a5771c9bbd15 CLINVAR:1210306 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56c96a55-514d-4182-a8a9-ae50fe2ead45 CLINVAR:1213682 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f6e458a0-ed9b-4e1f-83d3-0ccf103af7e1 CLINVAR:1213682 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4a53f08-64f0-40d7-bcf8-6c167dfefb81 CLINVAR:1213683 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f98e4cc2-9be3-45c4-838a-2c7fe028f60e CLINVAR:1213683 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f186ebcc-0970-4e8e-9ea4-5c9c9854a7b8 CLINVAR:1210311 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a6127459-2607-446f-b4b6-10d284e98f84 CLINVAR:1210311 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a4f3864-d4c2-4cc1-b118-0d1903adf5b6 CLINVAR:1210312 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9f03ee45-1884-44f0-a146-8fafdb864fba CLINVAR:1210312 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e91d8893-584d-4def-b225-7b5d1fe7b1ad CLINVAR:1210313 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4d152862-0ea0-4d29-b7de-593237538d87 CLINVAR:1210313 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1848eb4a-2894-4ccc-875c-eabfdb10bb9a CLINVAR:1210314 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f305d9b6-14e3-467d-bf0d-7495a7341b35 CLINVAR:1210314 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c08bb14b-5a53-4da7-9cdc-45d6995413ab CLINVAR:1210315 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d59e7fa0-69b4-4cb6-8ead-c17376f7f4a5 CLINVAR:1210315 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0fbc2aa-56b5-4e74-ba72-e0e32a63ffa2 CLINVAR:1004840 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b0a6398d-1b48-45cd-ad14-21d78acb687e CLINVAR:1004840 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a85cdb57-7cfa-4bd3-8df3-e057a8066dd7 CLINVAR:329032 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c41b1e8-d1dd-4b32-ab67-de3ec433beb1 CLINVAR:329032 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebc467de-569d-43bc-a82f-8036f2bd607d CLINVAR:329033 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 99703ad5-279a-4826-b874-d144252fa656 CLINVAR:329033 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c17c116-a73c-4a31-b009-7405bf7204a2 CLINVAR:1213825 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b9800473-3f32-4c7a-93cf-d1adf990b756 CLINVAR:1213825 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ea5577a-21a2-400b-8b17-e8366f3d9118 CLINVAR:544383 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1d06f71b-58b8-4fc9-b9a9-b45b99650a36 CLINVAR:544383 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d311e58-48c7-4ac9-bc19-b6556a722ea1 CLINVAR:1009683 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8e8b9729-9434-46d9-8c15-155cdbafeeaa CLINVAR:1009683 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f38a64e2-73f6-4399-8f9c-eceb7cbab541 CLINVAR:1213827 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f469d19d-ed53-4687-b4d0-e3d13601331c CLINVAR:1213827 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6aa7fc3b-30b0-4dd1-a351-df5b023acd2c CLINVAR:544517 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48238af7-575f-4a07-8af2-e7b20edc6fc1 CLINVAR:544517 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02ee834c-11e6-4389-a7bd-7ea009078e53 CLINVAR:1213820 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a5d5db24-90ad-4f10-8502-ecee880d2722 CLINVAR:1213820 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9f8ff63-0903-4ba7-971c-de29dd33261b CLINVAR:590571 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fdf7e40f-6f5a-4501-8409-0f44a37c2dc6 CLINVAR:590571 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 170a508f-9bfb-452b-aa8d-c71f0152d713 CLINVAR:133163 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 01d5d5c1-8bde-49ef-be74-d56ccb8b2c1f CLINVAR:133163 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73901190-6939-49b1-94f2-50abe8158994 CLINVAR:568713 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f10e1b1a-469e-4c48-9097-b4b157b9b6d1 CLINVAR:568713 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 022468f1-3f36-4468-8eeb-309388af74c4 CLINVAR:590574 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6490b5af-61b6-4d85-b9fd-b829f4fd0018 CLINVAR:590574 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bbe1cdc-1cd4-4081-8dd4-c91a7e2bc66e CLINVAR:1213821 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cac3db9d-854c-4085-8ff8-a0558f56d3c7 CLINVAR:1213821 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cdeee50-530c-46b0-9b8c-ece379e663e5 CLINVAR:133178 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 022da8fd-c659-4d09-8085-f2b8b7c20d4b CLINVAR:133178 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e2069fc-c6ef-4543-8d4c-8228f651f872 CLINVAR:133181 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 783d9b06-0efe-4270-a97e-ae58fb8a8fda CLINVAR:133181 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a371823e-e23d-4d42-85ab-f75c554b1d2f CLINVAR:133184 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cccd69db-66d4-4a57-b2d7-f4571bec23b9 CLINVAR:133184 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b0b1194-bcb1-44d8-9e8a-6d693e47588d CLINVAR:544455 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 79284f4a-755c-4e64-8b59-726b3a44da05 CLINVAR:544455 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a0178c1-a796-4550-b679-2bca8b18ff89 CLINVAR:133077 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1fd6c023-e7fe-410b-a970-ac14ab3a473c CLINVAR:133077 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8668db49-3bba-45a9-8e6b-111dd925470c CLINVAR:133082 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76f1ae48-d588-4c64-a579-31ccdb3a6285 CLINVAR:133082 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adf0832f-7b0e-4fab-a789-4690fdf1fde1 CLINVAR:65988 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 995d1b72-97f8-4c78-8c31-3a22f9375e35 CLINVAR:65988 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 621e076e-2560-4465-a85c-02184972a082 CLINVAR:133087 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a55c831-0d87-4962-8d1f-d75030d870a3 CLINVAR:133087 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1608d888-af9f-40a8-82e6-20ddadd5480d CLINVAR:65955 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ae36393d-07f2-468f-bbe9-0267bfc59ce5 CLINVAR:65955 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e391a98e-6253-4395-913c-df839c718fbb CLINVAR:1213822 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33c346cc-c619-4d47-9480-83111068520a CLINVAR:1213822 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6677c49f-71bc-4596-8efe-d9544fca3b0d CLINVAR:1213823 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen add8d562-34b7-4495-8357-9d95754f0e8d CLINVAR:1213823 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efbb0a3e-de61-4a38-bf43-dfa7474763ec CLINVAR:133075 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af7e3e7c-104e-4e47-9514-9b8d7474232f CLINVAR:133075 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd368e07-032b-4a25-84df-1605048a8ead CLINVAR:1213824 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38cb6fc0-ba18-4d97-b3cc-56f8a6d77f3d CLINVAR:1213824 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91aeb375-830d-4d5a-8b04-6e4f126f4192 CLINVAR:590472 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a158738e-546f-4b02-8087-c1f0433d3169 CLINVAR:590472 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 158f4164-a034-4bb4-a0f7-246e0c8b66c6 CLINVAR:102675 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cbfd3d5d-565a-4130-a327-d31c8a27c14a CLINVAR:102675 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9f1af09-df7e-42f1-bfdb-55e962008bcd CLINVAR:102768 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 796675f8-8052-43a7-a100-02fe2e4c2236 CLINVAR:102768 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a032f4c-388d-4a56-a4da-2f051c4cae70 CA16020913 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 431888e4-a5f2-431e-bf66-27c4aff44985 CA16020913 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a93cc759-97d4-46db-a0bd-050b28b9c139 CA16021003 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2e905921-3adc-4623-8bfa-ac89de69accf CA16021003 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cc14cf6-afce-4edf-a7b8-476813671007 CA16020936 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 89b7e467-48c6-4a3d-8692-970bd9cb043d CA16020936 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1824f878-a2b9-44ff-9f02-47cf335b33f9 CA16020941 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8aa83973-1c97-4cf6-a42c-9f34a96aab1c CA16020941 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 278397a9-9a05-499c-a4ac-c1f3a9bbf12c CLINVAR:102860 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 60a37805-1739-4ded-b26b-810c3e720818 CLINVAR:102860 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 270de392-899a-427c-885c-8e45e2dcdf17 CLINVAR:551270 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a55c631b-1d1c-4d39-8f6d-f801902bd73e CLINVAR:551270 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22bb3de0-5d14-4688-a12d-b5be46ee3657 CLINVAR:1327501 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f0dcde7a-c373-4545-b15f-1b32d830c8f6 CLINVAR:1327501 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 710ce520-d3b0-4782-93df-d6ee695f7663 CA891862619 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dd9afec9-23a0-4dae-8427-0069e15b665d CA891862619 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f405afa4-8046-4b71-91ab-221f9d9a6d10 CA658795288 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6248118f-6acc-49ba-9260-1a577bc73e2c CA658795288 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c460b0e3-5ef5-422a-8ef1-b56f15e1981f CLINVAR:1693552 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1215654b-d89b-4c07-bf58-e527e600b49c CLINVAR:1693552 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7578c00-da8a-4a0f-a966-647fc7e51a07 CLINVAR:188806 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 434aee11-e46e-4247-8aa3-7b1abf83a7db CLINVAR:188806 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 388c4ee6-02bb-4692-af83-c3fedadf6f04 CLINVAR:194154 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c4b3a73f-5aed-4680-8d00-e5d4c08c0ba3 CLINVAR:194154 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5a7138d-4580-469a-8165-f818e0640529 CLINVAR:4029 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 50cc50b8-b8c8-402b-9c0f-d340d65422d9 CLINVAR:4029 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen deb0a46d-2615-4ebc-9a1f-56dfe1ab69e9 CA251545 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0b134cba-2c65-42fc-a43a-38e738ea1d84 CA251545 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 873b090e-4808-4f81-9c70-7861d42c86a3 CLINVAR:558612 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e3c4c93c-b805-4ee0-b752-9592a0511ce0 CLINVAR:558612 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d118233a-45e1-4dc1-80c1-79ec97e83eaa CA16020968 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 87a37e0e-ae45-4700-b9f2-32ac14fa3048 CA16020968 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0321ea77-b3b9-455c-a17c-85bbda764602 CA16020934 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f99f08fe-cd29-4fab-bd30-2b6690799a27 CA16020934 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49aac766-09a9-4938-b0d3-562b87225ac5 CLINVAR:552488 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 22710d73-acc4-4afa-bfb6-ee9097249ead CLINVAR:552488 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e0caf7f-d337-464f-98ac-e224c9c3c7f3 CLINVAR:660581 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 120641d1-05d3-4ba9-8e17-09605424e4f3 CLINVAR:660581 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ec6b7f8-175b-427d-a07e-a381642d05ae CLINVAR:102538 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c90cb4e6-ee8c-40ba-95b8-291f15205dc4 CLINVAR:102538 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ebe10ea-7a0a-47fd-bc37-5ae3262cedf9 CLINVAR:102771 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 462e6df4-c917-470a-85fe-f662a44af8b3 CLINVAR:102771 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cca32944-5623-4d60-a5d8-db4544cd7455 CLINVAR:102773 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f509fdbb-ad66-4131-b649-f812cec138b2 CLINVAR:102773 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6dce242-385f-4b72-9abb-274bcede898f CLINVAR:102775 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3e8a3f73-6109-44c1-8a46-4618a7feec12 CLINVAR:102775 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec57c5e1-1fcb-4238-95bf-6a03f4345802 CLINVAR:234613 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9dbd6cab-098c-49c0-8d0c-7d0c90da4f22 CLINVAR:234613 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 878f22ee-f6d6-4862-ace4-228b92d14a60 CLINVAR:1292057 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 847d45c8-7663-4eb1-9474-3ef35165aa48 CLINVAR:1292057 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b92661a9-120c-4989-a569-9e13e8873515 CLINVAR:102861 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4120bdb6-4356-461b-9212-2f0e97ab8d2a CLINVAR:102861 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 409ad3f5-1c50-41e5-8ee2-f129e7cb0ee1 CLINVAR:237950 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc6fad46-063e-4186-878e-34dc7672ec5b CLINVAR:237950 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b454daa0-47a3-43f3-a2c3-06e2cbf2a24f CLINVAR:406604 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a4b70718-78e2-4fc9-845a-666c9f4117f9 CLINVAR:406604 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c7488f5-9c6b-4a23-a588-79e6c0439694 CLINVAR:419837 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a7abd3a-cc11-43d6-9f39-5f0bcad38f50 CLINVAR:419837 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab0c95a0-9196-4eb1-bb55-42c3e61ccabd CLINVAR:230382 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d77adf47-7587-484f-801f-6b96826febff CLINVAR:230382 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f06f24d-2054-460a-9f78-1370b8c78f43 CA16020837 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2f93afff-952c-4a2c-bfaf-d20f5c1e0980 CA16020837 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 261cf55a-1819-4eb7-abc9-86daa0a6affc CLINVAR:557425 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7f48e5e3-821b-4f7a-aeca-03fc0a4efa24 CLINVAR:557425 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ec7aaa1-3846-4427-877b-d39e2e9c3cc7 CA16020844 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d3ce0d55-25bd-432a-88e1-d017c02ce1fc CA16020844 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1bc8754-080f-4ede-bb67-e0bee8199377 CA16020848 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 564c3612-fc4f-4313-86e2-f29ccb4e845f CA16020848 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5df56dfb-17b3-4340-91e6-ec9480a4e46f CA16020914 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 262d71f2-4a2d-46be-801b-cc1601dba59d CA16020914 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7aefe49c-3246-4dda-b334-3387ae19847c CA16020927 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a9aede18-7be3-4051-9913-980f48096c9b CA16020927 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d56e319-ff06-4d34-b9ab-20bc73ee0a03 CA16020942 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5c13a167-7a8b-475f-b0ed-640e8e174ab9 CA16020942 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c25869d1-7460-43e9-b00e-8980f769c8f6 CA16020952 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3ebe0d60-7c4e-4675-ba66-2b424643dc4b CA16020952 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ae209ca-b18b-4d14-a3e5-e8b5e76c74fa CLINVAR:862570 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0159d689-b1db-46d2-8e0e-9a71429c6ff7 CLINVAR:862570 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 587412af-b6f9-41a3-ab0e-90b18d07fecc CLINVAR:551592 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fb387000-4d9d-4c40-896d-f6dbf0bbf374 CLINVAR:551592 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23aa9216-4f05-46b7-8462-97c024f4e82f CLINVAR:189059 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a1f7a899-66c7-4a95-8271-73719e8acc6b CLINVAR:189059 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a04a007-4df1-4224-9672-0b8f104bd47d CLINVAR:556716 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9a89d9a6-2e8b-4780-a6a0-5d352ef28d85 CLINVAR:556716 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b57eb426-99f7-4ac7-92ec-8451264afdd2 CLINVAR:552747 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c773cebc-dcbf-4475-bd3d-0bb587670685 CLINVAR:552747 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e564137-53de-4b47-8e28-3897f1d4f072 CLINVAR:554096 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 60e74e65-9c92-41b5-908b-d6bb2abe2785 CLINVAR:554096 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7e3ef43-3aa3-4095-971d-d7b2ffadb5da CLINVAR:550277 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bb0745af-c64d-4679-9f2b-c65696735e34 CLINVAR:550277 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad24a93a-cf3a-45b0-8475-14ff2c9c6ea4 CLINVAR:370552 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8136e944-98b8-4936-953a-5114489bfc2f CLINVAR:370552 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9a62061-e653-4074-9a3b-4e5eefa91131 CLINVAR:370639 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f4aa44f6-f6b7-4343-9039-e2ca4b0a3b42 CLINVAR:370639 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e8bfb10-ef42-4f6e-92b4-5e5847520cd8 CLINVAR:370993 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fecacc05-8b80-4d9d-b289-b78b9538996f CLINVAR:370993 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 595c1242-bbc0-4864-9ab6-397ef90051cf CLINVAR:555341 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b42d2b6c-fbe7-45b8-90e7-3ae171674329 CLINVAR:555341 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26099c08-db7d-4567-8a3c-98a96d472cc4 CLINVAR:558571 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3de17936-65bc-47ab-8ce1-f429a9188e86 CLINVAR:558571 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 591c0838-c2b1-4555-a9ab-76ca82d17213 CLINVAR:92480 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1a44faab-72c8-4fc0-82e8-5f86a3a55b23 CLINVAR:92480 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be2ae6ab-07ca-4a9b-ac7e-11ba655fdc79 CLINVAR:550478 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b3f42a82-ac70-4bda-a53b-ccdf385b8148 CLINVAR:550478 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1cc7a69-3960-4ada-9427-3f228fde3dc2 CLINVAR:597005 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1a42e67a-d0e2-4aab-b9c6-c098de916a0f CLINVAR:597005 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 340c68b7-d26a-4d28-b738-9a5f8afc2d06 CLINVAR:42835 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 667a7b6a-0cd1-44ba-b0d9-9c0445f2bc64 CLINVAR:42835 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b0a0c32-821a-439c-ab1f-bf81d6463446 CLINVAR:42840 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cb9e3437-f014-402d-b585-8b705158e9d8 CLINVAR:42840 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1de6f392-2ea7-448a-9b68-2f0e332a7a8c CLINVAR:42860 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23db831f-7137-41bb-ad15-9bff056438a9 CLINVAR:42860 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2ef0cbc-3380-4f75-924b-abb5bc64a9f2 CLINVAR:42876 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75879247-10e0-420a-8b6e-781e8e86646b CLINVAR:42876 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd260dd9-f764-4ccd-86d1-72e770046983 CLINVAR:42948 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d3ef614b-f177-4531-9ffd-c9442f8722da CLINVAR:42948 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d1e0d20-d5ce-4c42-9ec6-37a368e57ad4 CLINVAR:42960 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c61e847-0b0b-4959-bad4-0a48d7996262 CLINVAR:42960 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 826d69d1-46a1-455d-a4f0-0f6f137b0f73 CLINVAR:43028 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b09e6b5-ee0c-464e-8ff1-c608213f0762 CLINVAR:43028 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen feccdcee-ccf4-43b2-ba98-dfdbf7509ec5 CLINVAR:43064 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fccd108e-4858-4914-bf6b-c84495db8edb CLINVAR:43064 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20add13b-3b4b-4f4e-967a-533bf93ee8aa CLINVAR:161323 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b336e28-85d8-4d14-aa67-968b79d8bb2c CLINVAR:161323 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91644ea9-ebd4-44e9-ac86-90aa62dad79b CLINVAR:164316 biolink:causes MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b2be61d1-ad63-49ad-8f44-92e753a69b2d CLINVAR:164316 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b714d4d6-0958-449a-ab7d-1c8f7b005ee0 CLINVAR:42926 biolink:causes MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f642ac43-2e91-4fc6-8d1a-4fd7b7a48a0a CLINVAR:42926 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb67388f-6a67-4c38-b82b-0c1d5da65847 CLINVAR:164319 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5d15b97-f894-4840-95f6-3f63734d1a79 CLINVAR:164319 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7aa56435-b82e-4318-a4ed-5c1c968771b9 CLINVAR:181203 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e90809a-d000-4fe8-9a0d-73974a8968b2 CLINVAR:181203 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07035ed6-0e53-4900-84c4-6499263e438a CLINVAR:164381 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bb6ed2cc-c41a-4d04-a54b-0f91568ec32a CLINVAR:164381 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56930a17-9e38-4509-b70f-7f161bb5b89e CLINVAR:177667 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5ab5700f-456a-41eb-b54b-5789033c718f CLINVAR:177667 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02787158-d0b3-4a80-b60c-2ad9e43f8e2e CLINVAR:177734 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b4a49c48-891e-430a-a098-df93552d05cc CLINVAR:177734 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0af10c9b-d80a-4698-b066-a1b9792ddc4d CLINVAR:177847 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 298e8514-43f8-422f-b46b-ff7ad9e55051 CLINVAR:177847 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6ac59d7-1eb3-4a5c-bb37-824006208fa6 CLINVAR:179272 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c4054fac-d8a1-4607-8cbd-8349587bbc7d CLINVAR:179272 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9082b178-ca52-4587-8363-d0c19c0162de CLINVAR:180439 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 654a0bd7-a306-4b56-a5a9-55d57a3c765b CLINVAR:180439 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0a92b17-032b-45ab-8ceb-07b13ba5737b CLINVAR:180441 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4000ef3d-8e01-4334-8a7e-14d15dc9f2df CLINVAR:180441 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df0109b8-f2c6-446f-8896-a591b050539a CLINVAR:43097 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4357cf63-d929-4496-9c86-fbfcc5936d4a CLINVAR:43097 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fa23463-81cd-460d-931f-12091ef8d5fc CLINVAR:180434 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2a2571f-686e-4561-b446-5bf3d490843f CLINVAR:180434 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45f8e0f4-e11b-40e8-bff3-b0c07c0fbf3e CA16020978 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4e44255a-fe65-4256-a0a1-f777211ff3b3 CA16020978 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d094a1d3-8882-4d2e-8c6a-29aad6a20987 CLINVAR:549912 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 66753fda-4eff-43af-831f-a2cfc4e86f44 CLINVAR:549912 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0c0a468-dec0-465f-bd26-5e568789e289 CLINVAR:127811 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d98b9927-b642-4273-b383-8eff5f80c80a CLINVAR:127811 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3bc75d6-d618-4b1c-9621-fa0792e871f0 CLINVAR:182926 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8f93604a-cf7d-4452-b487-0098eb3111b1 CLINVAR:182926 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c703ebe-54b4-42e5-b775-3afb80bd33da CLINVAR:973858 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0821c443-bf3b-4382-8a19-331c1c3e482a CLINVAR:973858 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd38432f-4760-4367-802d-cfbb2f55aa95 CLINVAR:141566 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 20996dc0-c777-448d-88f1-c3146a63a70e CLINVAR:141566 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0baee29-7757-42a3-9c74-c831faa15bc5 CLINVAR:102681 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 679f4931-0a34-4ce9-afb9-a9265b5d26af CLINVAR:102681 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e27e9001-b27e-45be-9872-11b1cba21b4d CLINVAR:9641 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c299ea3c-1bdf-4e4b-97cd-2a0677c842df CLINVAR:9641 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 888e6ded-5dfe-457f-adcf-c50bcfa2365f CA916084427 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 02f2dbc8-e0f2-4ba3-b2f5-eeeff3a59c11 CA916084427 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5cf7996-b329-4de0-a3da-399d10668282 CLINVAR:9642 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 722998bb-f8c3-4d47-9c58-6a19eecfd1fc CLINVAR:9642 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ac15031-b207-4466-a3ef-82b6c1281ed5 CA916084430 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 69591cc0-ed17-4d6d-8b10-667ddcf93624 CA916084430 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26ed1ac1-cc4e-4779-90c2-7b89b28cac45 CA916084429 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 27b60815-e797-4b88-a887-e6c345ad1ebf CA916084429 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a9345af-3231-4dcf-8049-4a167f857bd0 CLINVAR:890601 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen daef6ae4-dd74-457b-bac7-f8c32007c59e CLINVAR:890601 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e8394d5-ac60-4005-b287-f3ebd422066e CLINVAR:265901 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6087c8d8-267a-41bd-b2cc-ae542ae574fe CLINVAR:265901 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3b5888f-58d9-4dbd-a5ac-addd3cb6af44 CLINVAR:650703 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 614dbed1-2384-4ae8-9607-4a30a736ecaf CLINVAR:650703 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24da2aca-666d-4c18-92bc-5a162702d475 CLINVAR:977125 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b8600eb3-6fad-44c5-a1d7-36f4fdf510dc CLINVAR:977125 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec458dab-befc-4402-99c6-dca477c50122 CLINVAR:953025 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ad35d80-c465-4bbf-838c-8a8d10573f25 CLINVAR:2323 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7bea5f2b-dd10-4dd6-8fa6-f782080c74da CLINVAR:39816 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 08479c97-cb03-4e49-9c50-73fb2b1b941d CLINVAR:39816 biolink:is_sequence_variant_of HGNC:393 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8baeef03-37db-4ba3-a972-b6aaa66d73ff CLINVAR:664963 biolink:genetically_associated_with MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 92ce8a02-f69b-4630-b7ec-dc7cee8ce947 CLINVAR:664963 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82ef2891-2616-4966-96f5-8aa0ec322b92 CA645535219 biolink:associated_with_increased_likelihood_of MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4a463c17-70e4-4997-b06f-d91ce9b27732 CA645535219 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 541fa5e5-9990-4164-acbf-4f9d4363d1ad CLINVAR:39808 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1843b093-d607-4c53-80d9-b158de446e00 CLINVAR:39808 biolink:is_sequence_variant_of HGNC:8980 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4f2b384-4c8b-48d2-8b52-592722f1a92a CLINVAR:376130 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7b141601-469b-4125-9e49-86e929e8a0e4 CLINVAR:376130 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04402f4a-af39-4031-8a30-e5f66ca9dd0b CLINVAR:858694 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aec6a448-09f2-48eb-87a8-4b0082f0b1d2 CLINVAR:858694 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b4b85a4-04f1-437c-b541-609a06f7775f CLINVAR:376453 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 172a23ee-7865-4990-88bd-0e039115c6e6 CLINVAR:376453 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e93e3fd4-b925-4186-9a17-ce07c9557e5a CLINVAR:1296990 biolink:genetically_associated_with MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 87d5b86b-5174-4269-85f2-e41d39618a6f CLINVAR:1296990 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dafd519-cd53-4ead-aa57-f44037324805 CLINVAR:833713 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 547a2b8e-e60b-4cb1-81b3-2a03798b28e9 CLINVAR:833713 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c4f67d9-8827-429c-8942-5857a766fdad CLINVAR:374796 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c8530f96-a663-4538-b556-d0ff4962b03b CLINVAR:374796 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f689880b-d8f2-4684-a82d-c0c3cc4a87d8 CLINVAR:1296992 biolink:genetically_associated_with MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 025a4942-5927-4d56-93a1-bde749d9296d CLINVAR:1296992 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57775750-03a6-413c-a17f-52ab7153c078 CLINVAR:31944 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f0d7ec4c-bfb6-49dc-be03-d3e4abdb1c14 CLINVAR:31944 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24400082-eae0-40e5-b834-6167304be47b CLINVAR:39703 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6f0e18b6-5c75-41cc-beb9-6f516dd02603 CLINVAR:39703 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db16eb09-333b-4613-bc6e-eac182e18536 CLINVAR:1296991 biolink:genetically_associated_with MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 31b29445-3b14-4745-8e89-920428b80ef5 CLINVAR:1296991 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5c37702-c26c-492d-b88a-e1ecaa92046f CLINVAR:376476 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 17643da4-df4e-4462-8402-3bd452fa8307 CLINVAR:376476 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5c5ae65-8ad2-4690-9829-756d278676e0 CLINVAR:156702 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 20b91ec9-0a00-4099-8672-5d3a1677e02a CLINVAR:156702 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33185a9a-b031-4612-bb42-221bd7c4cf41 CLINVAR:376129 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 93adf101-239d-4d82-934f-021804af40c6 CLINVAR:376129 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 716ed01b-ddf9-4c85-a7be-a9b8609e02a6 CLINVAR:1296997 biolink:associated_with_increased_likelihood_of MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 20c5754b-35b5-461a-9e55-3530856d2b38 CLINVAR:1296997 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb4c6b91-302b-4472-9ac0-b67e966c38c4 CLINVAR:1296994 biolink:genetically_associated_with MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 09015b47-7d79-43e8-bcf9-4b1fafd61bc6 CLINVAR:1296994 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85674654-d04e-4d48-94e2-a388826c635f CLINVAR:1296989 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 552c78d5-b6b9-4620-9356-aa018b964f7c CLINVAR:1296989 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be5de476-5613-443a-ba89-dcfb67711d05 CLINVAR:659938 biolink:genetically_associated_with MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 09b535f0-b548-431c-a736-21446a4300ce CLINVAR:659938 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bfbcd33-bbcc-40d4-ab6c-4f0e178d2369 CLINVAR:1296993 biolink:associated_with_increased_likelihood_of MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ec371be9-8008-4076-ac75-5ceebf644630 CLINVAR:1296993 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6093c173-9940-42e9-ac02-a676d1cf53a4 CLINVAR:1296995 biolink:genetically_associated_with MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7dd0c0ab-5699-4292-96e4-89b30b71b424 CLINVAR:1296995 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68dde422-6876-4c78-9848-9d5402b880a6 CLINVAR:156703 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 067b5a02-eab5-4a66-8565-459a1bd65857 CLINVAR:156703 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b6361b6-b785-4f50-9efd-3fd04a7b5d56 CLINVAR:1296996 biolink:genetically_associated_with MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 59bba933-9fe2-4b6b-bda2-06abdfe17cc3 CLINVAR:1296996 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76c4d850-74ab-4ded-92d4-0e84e03c8ba9 CLINVAR:417723 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1664aab2-9197-47a5-b417-0f9782137aa5 CLINVAR:417723 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec85484a-f33f-4abf-981e-73f9f2131bd7 CLINVAR:13652 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3295a01f-3299-4bef-904d-c2a31b90fc28 CLINVAR:13652 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8100adc-744a-46a8-a071-b9d0910add4f CLINVAR:693058 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0f433ee2-6e3d-41c4-82fe-6d3eb7847ea7 CLINVAR:693058 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d86d3a7-4397-472d-b91d-70eb218d4d26 CA414799043 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c8b45e20-fa09-48e0-bc55-b915b37ef93e CLINVAR:658833 biolink:genetically_associated_with MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2f1d268e-f0c4-4b78-8d78-db25b73894d9 CLINVAR:658833 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75687721-6cd2-4fab-8366-1d04b3e95fbb CLINVAR:329444 biolink:genetically_associated_with MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d1bb297-97ca-4d66-a47f-a0218aaff95c CLINVAR:329444 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33eb69c5-e3fb-47ef-a328-36255a4e0db7 CLINVAR:329442 biolink:genetically_associated_with MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 30263ac3-66e6-48b2-a80f-aa33cc256f42 CLINVAR:329442 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 478252c2-5c4f-4c90-8f69-96496fb1e52b CLINVAR:214936 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 77116904-8595-4742-a93d-9a89092927fa CLINVAR:214936 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 859cd866-b1a6-40d4-8259-2ec1782fcbb8 CLINVAR:214938 biolink:associated_with_increased_likelihood_of MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 37b5739f-b482-402f-8915-31c3066213b7 CLINVAR:214938 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4e38133-a1c1-4424-83c7-4e4c12cca3ed CLINVAR:972803 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a19c2e68-ee6b-4230-b734-e7d15c3ee611 CLINVAR:972803 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f9d5c59-b698-437d-922c-9549ad836f32 CLINVAR:1327503 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ca792fb9-59ab-4bfe-8adf-3e32a3aa0f4d CLINVAR:1327503 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d73f248-008f-44ab-975a-ecea3a3d4710 CLINVAR:1327504 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0a049a96-48c8-44b2-8ee2-7cf680bfafc0 CLINVAR:1327504 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51cbb3e9-9e33-4fb5-8a99-a1c54163a5d9 CLINVAR:371481 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4d81e291-586d-4890-82ea-92fb4f755c8f CLINVAR:371481 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaa53646-5bfd-40cb-92ce-f1523fa66b5c CLINVAR:551558 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 405be1c5-5c63-49d5-8c32-05db435476d4 CLINVAR:551558 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 226e1206-2491-4b5e-b2a9-d3a3df8c31fd CLINVAR:9714 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9876bf38-e039-4e8f-8119-7619b1dd0ef7 CLINVAR:9714 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29256c0b-a5c3-4dcd-85f5-3cae6a4e109b CLINVAR:555153 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 074a2806-f651-4a5c-b21e-15eff402b7f3 CLINVAR:555153 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d89d6ac-967f-4e80-a3f3-ceda8a0b29fa CLINVAR:558700 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen af5543a2-6921-4013-84b1-4668015d98cf CLINVAR:558700 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c0485ce-6b14-4efa-bcdb-fbaf4ae8fd89 CLINVAR:956209 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bdf59d95-b763-4327-9857-5f3032e9b604 CLINVAR:956209 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d2eb532-399a-4e64-8c76-82693440c483 CLINVAR:9702 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5b88b39e-a279-413b-b69a-74e507e62e58 CLINVAR:9702 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94d7fc8a-66f0-46ac-91c6-c2886b91ff16 CLINVAR:689930 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc94eaf5-6657-4c8d-8f3e-195cabbd115c CLINVAR:689930 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1c805b7-2641-49dc-aa49-9c3fd39a3e33 CLINVAR:265160 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 420f1797-2d02-44f0-87f6-b34d87fddbff CLINVAR:265160 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40361702-982f-4ab4-977d-06dfc15c6f6a CA386966233 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07030021-ecf1-429b-888b-1c29d3f6c9c7 CA386966233 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12d3c1d2-f5ac-4ade-b04d-deef28655158 CA386966092 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d5378729-8cd3-460b-b687-ff8341a8ce4a CA386966092 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7cca762-f21e-44d8-a5cd-53c5ac218a50 CA386959939 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a686f372-6b77-46c5-b602-b05800838769 CA386959939 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 244fd278-c383-4edf-9eb7-31a1ebafbf0f CA386959897 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68e6d9fc-9fd1-41c7-8df8-5173b3018ec7 CA386959897 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddc5cc98-5338-4659-b700-a9b5deec8283 CA386959900 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ae2e066c-510d-438b-99f8-a4bffef573b3 CA386959900 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46ff1994-1ea4-422d-bbe6-a51e9e493b10 CLINVAR:586798 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3fc6f20c-d5f5-4766-a992-2cbb2909e41f CLINVAR:586798 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d9afb4f-873c-4967-9d2c-baca26e3bd60 CA386967824 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 32ff3e73-0877-470a-b376-96de32b8e4f1 CA386967824 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e909ee30-946c-4d68-9e38-75dbf7d2e4bf CLINVAR:617646 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dd5135e9-1381-4d21-9fb4-f753c8d9e0b1 CLINVAR:617646 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 799dc424-89c5-4370-ad43-0d7c07f59e53 CA386959690 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0bcfbe3e-fd95-4cec-b3f1-e6d26d5197a8 CA386959690 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 277e9655-e779-4027-9de7-165db2038cb0 CA386959674 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 265ccf4c-616a-4f55-b399-0ea3507e1c07 CA386959674 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 357738bf-6d9d-4c5a-ba5b-cb52e56179b5 CA386954869 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aa943b6a-e94d-4d6f-b270-a464ac09eb89 CA386954869 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e099cdfe-1b7f-4ece-84ad-1a85d59bf630 CLINVAR:14930 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 56f3d080-e6a2-485a-b492-344a85f48b60 CLINVAR:14930 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a95e4826-070b-4e82-824f-53a006682f86 CA386952489 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 09fe30ef-f34b-4824-86e8-cd4b6f7bf01b CA386952489 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 289c0d3b-4a2c-4c2c-940a-137546c2ed66 CA386965866 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 898d6539-d428-4376-ba21-1f62236e5677 CA386965866 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad2b4570-123b-4d67-8c61-b7e66f5a7bb9 CA386965858 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c857587b-c634-4aef-a406-c99149dfc0b5 CA386965858 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ac038bb-e169-4c20-a912-b0b236465602 CA386952583 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7048fbf4-77e5-4152-8563-607700dacbb7 CA386952583 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5558e9a1-5f05-4414-8660-6effedfdea22 CA386952580 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2b178e55-4a93-4f3b-8ce8-650acf5659f9 CA386952580 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97cbebb3-da5e-47ad-8d8a-69e0e2a909e1 CA386952573 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1930d938-e647-4dda-9e00-ceecce1e40c8 CA386952573 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75ede44a-56d8-41f3-bbd2-504d6e11a991 CLINVAR:1033090 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2f53ea04-0f97-4b07-ac0a-956225f8329b CLINVAR:1033090 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4215c81a-0a99-4710-96f7-c08d3fc2c603 CA244520175 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e3888737-c978-4041-9d35-91a9c561bb54 CA244520175 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5841ae33-a4c9-4fb4-ba38-12bfb6b60ac4 CA2480594443 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dca7dd30-eb72-4abf-9a80-5c777fd44937 CA2480594443 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ec03648-8347-4e4b-890c-cfb4b744e294 CLINVAR:447488 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9982284c-2e17-48f8-82ed-59983e3f4961 CLINVAR:447488 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9dabff2-ab60-438a-96e4-75f57b289b7a CLINVAR:14943 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9bcf523c-99e8-4975-805c-eda39722b4ee CLINVAR:14943 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39030711-6058-427a-9796-eb4a01d0fd59 CLINVAR:14933 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 57120330-2bed-4ff8-bdba-c1ce118987b3 CLINVAR:14933 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6177b686-50e5-4784-82a5-f348efdddd9d CLINVAR:562373 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b910198b-850e-4860-9fbb-dfc444b9d2f5 CLINVAR:562373 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8deb3f45-7a10-42ae-b6a3-6abd93cce45d CLINVAR:1327603 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9271ad8c-2486-461d-a734-54f2c6fdd7cd CLINVAR:1327603 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0adee11-37bc-4a44-b515-eb3dca724383 CLINVAR:994547 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 243107bf-ae12-48e2-996a-ee887d7fd66a CLINVAR:994547 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3426d0e4-1ec5-428d-b579-36b630bad861 CLINVAR:484614 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 57a52ca7-3413-415c-af2b-918f2f2f057d CLINVAR:484614 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e93b7e3f-0c8e-440e-83b4-7126506c8dd5 CLINVAR:9689 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 42165911-6d8d-4079-9c6d-24a95a968cf3 CLINVAR:9689 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bd5b1cd-f978-450c-ba1c-104e1c615f0e CLINVAR:9579 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f603426c-de0d-4b56-9969-3f51ffd3ac11 CLINVAR:9579 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97f37b85-5386-4c08-a6a7-da78021f4044 CLINVAR:590492 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e456f5e8-ec2d-47bc-a023-9bf2d7f4f3d9 CLINVAR:590492 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fbee965-7946-4ffc-a807-d223d6cb092e CLINVAR:133093 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c724cebd-81a4-4cf9-8c27-501f090553ce CLINVAR:133093 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f47ca17-fc81-4a48-b45a-703020dae090 CA16020828 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d32a41a2-5d95-403c-8516-7c2b48609540 CA16020828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fea5396-09a4-4580-b604-e1d607033e4f CLINVAR:1327604 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a86855f8-00c5-4b36-b4b3-94a40a64db33 CLINVAR:1327604 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ffa666a-14e3-46f7-8583-b16ffc177a07 CA386965780 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 59a9bc19-3812-4ed7-9eb8-f65ef9db2fe0 CA386965780 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2db5f3d-c1f3-4c3c-b9ed-2edd8dac4161 CA2023554331 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9eefde91-16f3-4a8c-a151-6a6cc23de200 CA2023554331 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc1a8b54-c75a-41be-9f33-77792b95580c CA386965770 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6852fb4e-551d-4978-9208-8a4e651eb613 CA386965770 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b858ee7-2b97-4643-bf65-9cdb8b9cdd77 CA386965775 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 14f9ce14-b926-4977-a684-723d2af73c19 CA386965775 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79488af6-a82f-4c2c-9658-c4d784e379da CA386965798 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 80edd1f7-436c-4512-a27c-5552bf306eb3 CA386965798 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd3e7020-1ea1-4c9c-897e-2d81d1fb6d09 CLINVAR:703089 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a52d3ad9-5c77-47f9-8503-07f50dcc276d CLINVAR:703089 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d9f5a28-e21a-499e-a53a-87de74250cfe CLINVAR:102539 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d876f99b-070f-43cf-9064-66cd7b9eff0a CLINVAR:102539 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69080486-22eb-4ae4-92b4-92c38e740e63 CA16020982 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 07b46122-410a-4244-abbe-73944018d74a CA16020982 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df7558af-4958-4ba0-922f-134b12a83fd3 CA16020983 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fa4f5682-4503-47f1-9b34-88d932294dd0 CA16020983 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0d8dbbd-c6f7-4e59-8162-e654a6af5bee CA16020990 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5ebdc5d6-8971-4140-bd94-fe0f4dd84e64 CA16020990 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72df9b7f-ecdd-4f59-b5c4-9c30bfbd91fc CLINVAR:962987 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 215aab8c-d3e3-4573-87a1-9cb487077933 CLINVAR:962987 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f88c98c-f434-4cd6-8b69-71d82f217a28 CA6748773 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3e926d3e-e827-4300-829b-d30b1f50d3d7 CA6748773 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 433a0b4e-f450-4f09-af69-579bdddf2382 CLINVAR:102528 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fee17f69-847d-4175-9141-22502a450b92 CLINVAR:102528 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83a766d4-55f1-4e71-9dcd-5df77f14213f CLINVAR:102545 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ee22f783-26ff-476a-80ef-b4cf1f60bae1 CLINVAR:102545 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7a46371-f159-405d-81a6-d9d49251befc CLINVAR:102546 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 027b150a-e2e8-4a3e-bf81-81352a73e5d3 CLINVAR:102546 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dacecafb-8ccc-418a-9a41-e4f641b760d1 CLINVAR:281052 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b1b7efad-3c49-46b2-b45d-7cfe0f456566 CLINVAR:281052 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b252ec46-b47d-4f88-b3aa-71ab317c7ab3 CLINVAR:283219 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 65378a09-2ea0-4659-9efb-d7602b06adfa CLINVAR:283219 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e3ed37e-9d0a-4d74-bf20-5c6722068f20 CLINVAR:640911 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 42600fc8-e5e9-4078-961e-506f9e9deb67 CLINVAR:640911 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5ed7262-e437-4264-b3e2-fe0f19f91f7e CA401363854 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cd551e1b-c7a8-47e0-9f4f-ca6147a6a233 CA401363854 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d58f6f8e-0a89-4dfd-943e-99297ce632d0 CLINVAR:370637 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 608bb378-9e57-4e5a-9f5c-3726e92a0810 CLINVAR:370637 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e70a5ad-a8b1-4e28-8e78-d6b94469e14c CLINVAR:181210 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc4f50e9-d953-42fe-b0b5-b600fc1665af CLINVAR:181210 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dec7e85e-7eb9-4801-8354-1b5d1580adeb CLINVAR:181236 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bf8786fb-3d95-4aea-b86c-122f7919d086 CLINVAR:181236 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5570c1bc-3902-4abe-8d15-2b1b75de103e CLINVAR:181278 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 90b90f21-535c-434b-bbcb-4ac6f08efb83 CLINVAR:181278 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91b558d4-c093-447e-8895-6441a2b3e611 CLINVAR:181286 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 37ad5ad9-25d6-4c52-89fc-3a81eecf6b24 CLINVAR:181286 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b44ea53-6e77-47a6-87df-bef9394f7751 CLINVAR:181293 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a9fdbf38-4b6e-4385-823a-eeffc54a4980 CLINVAR:181293 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 224c58e5-47a9-4264-b7d2-e8e0c9026c03 CLINVAR:181299 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e343b36-846d-406c-8b7e-4eb99f7c9273 CLINVAR:181299 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de043c12-d14c-4696-ae0e-e99496a72b09 CLINVAR:181300 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bf72b013-4cad-4b4e-b3af-9d5824e5f51b CLINVAR:181300 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9601dd69-616a-4680-9a7a-46dc105c0255 CLINVAR:181310 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5d2dac53-6039-4a8b-985a-3fc2080fe02a CLINVAR:181310 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e25dc1f-5041-4ba3-a9e2-7403372ec8b3 CLINVAR:181312 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3555fef0-c015-47fe-b848-bbe9126b3f4c CLINVAR:181312 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f1c2034-6215-4585-a52f-de872cedd3cc CLINVAR:181315 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 06244960-5431-469c-b96a-9ed8dbafa8af CLINVAR:181315 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0ee4b91-46cd-4b6c-ae81-b6c673349fd1 CLINVAR:181330 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 40d68de9-8d8d-4158-9a06-c3b6c83008ab CLINVAR:181330 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 386701e1-1914-4c54-b693-e2d5fc992ed7 CLINVAR:36831 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5b25063c-b715-452d-a96e-da9515ca165c CLINVAR:36831 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d78a9dd8-7d2c-4ad0-a935-0a8ae6c27339 CLINVAR:1327611 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 559f0467-e68c-4c04-97ca-ba43f01c0d94 CLINVAR:1327611 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7dc324d-8a70-40eb-a70e-f9a446fe563c CLINVAR:1327612 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ff41790d-1297-4738-9f7d-6d05df1e0e35 CLINVAR:1327612 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51831c31-f6b4-4586-a671-9750442b5fea CLINVAR:1327613 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ec03c87b-b5e8-44de-b21c-623f5c6a0368 CLINVAR:1327613 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97d19b25-7913-4b55-8e63-35e80349cfc2 CLINVAR:1327614 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53dd8232-3888-4283-8e07-8f4f9ac09042 CLINVAR:1327614 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8b61089-c9e9-47e0-9e7a-e3ffe2d87c0d CLINVAR:1327615 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81a77d3c-5995-4640-9c35-969b84a4b71e CLINVAR:1327615 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00599fbc-19b0-4fed-a4a6-09540d68049d CLINVAR:1327617 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9598ff7e-779e-4474-8272-36d6c2e47f5e CLINVAR:1327617 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed66186e-2920-433e-84ab-5779ffe30b9d CLINVAR:1327618 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 54ad52dd-a26a-4e8b-9cdf-58c876c9bbc5 CLINVAR:1327618 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7eea0145-96ab-413c-96d8-a7e3cca5d722 CLINVAR:1327619 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b75d5be-e0a1-433f-af59-e9260db583a2 CLINVAR:1327619 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dda67f8-4078-492d-914f-942d6e513dd7 CLINVAR:689846 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0ca710f4-35ba-4b37-b396-263a2d0a7566 CLINVAR:689846 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49be88a8-4d5a-4837-ba40-eb2d25305a73 CLINVAR:693460 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 87e44f8e-96e5-4457-b7a1-8dac25956cc3 CLINVAR:693460 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c46cbe7-95ed-4bad-8f04-3e56ef2e0e43 CLINVAR:692343 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1f640b44-5b47-41a2-b866-871b044f3d71 CLINVAR:692343 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3f5cb2a-86c2-45b3-ba44-e232a1689224 CA414791198 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ba1786c-6125-493d-a409-5beac05b2797 CA414775553 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b82f3ac-739f-4ce7-a837-b5de00ab7847 CLINVAR:693828 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d1cbf25c-a03f-438f-b689-498022ca8b33 CLINVAR:693828 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cc73b5c-1392-416d-81ef-7403c99d2bbe CLINVAR:689941 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f834030-d943-417b-9044-e6c6d0d11cf9 CLINVAR:689941 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cdf1c33-c81b-4dd1-9b49-a00c4a0de3ba CLINVAR:102493 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9e73d3bb-5f61-49d0-83c5-428db15fd29b CLINVAR:102493 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a51c38f-e72f-45cc-a5d2-05be6b51643a CLINVAR:102487 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1dbfbcfd-4389-44b0-ba74-d034d0c7fa53 CLINVAR:102487 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f6b2c23-c92b-447a-a934-3460abeaf211 CLINVAR:690123 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b07f3170-a952-494d-9578-34f5b19454d3 CLINVAR:690123 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcf65b3d-d71e-4987-85a0-eea28ce03e2b CLINVAR:102585 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3b23cb15-d389-4cbf-8d92-b2f64ca78b2e CLINVAR:102585 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41041088-98f9-4927-ba0e-df25a25f5e40 CLINVAR:102611 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f7b031a3-c8c2-4b9b-8dcc-93aefc32a028 CLINVAR:102611 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54e2f072-ae0a-46c8-a750-7c5f88a92c14 CLINVAR:102776 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0326ac59-8b25-4eb8-9ba5-ee3fe89f0b8e CLINVAR:102776 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 123042d3-bb1e-4915-9ab6-8005655d6a14 CLINVAR:102785 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b93b63e9-89e7-4633-a6a3-8fb78012e107 CLINVAR:102785 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 425a167f-d233-431d-afd6-0f675642d476 CA16020954 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0e94a201-3601-45ee-90c1-2f33dc2ee743 CA16020954 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a12c30f-b87f-4119-a0bc-6a431598b64f CLINVAR:370982 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e996a097-58be-402e-9750-3c2ac77c64a8 CLINVAR:370982 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f3a0fd3-c8cd-415a-a15a-54cf28f881b3 CLINVAR:102748 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 90749dac-f9d3-4538-a22a-8beeca237f03 CLINVAR:102748 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2749a4e4-65c8-4e0c-931a-646df3e2a7da CLINVAR:102807 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 63ab8904-bfa0-4b31-902c-23fc411eda2f CLINVAR:102807 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c10c92a-70fb-407e-86a1-33bf4ab2b25e CLINVAR:133186 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5af238ef-b229-4b1d-b957-d88df3251c6d CLINVAR:133186 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d58be96-da2f-4a14-ad91-775eef612264 CLINVAR:133187 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2ecb17bb-240d-467c-ad38-d3aa8882db7b CLINVAR:133187 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a7861c7-6759-4984-9334-81606978b77d CLINVAR:1330355 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c3a5b65f-e2a8-42c2-845b-502c038e0956 CLINVAR:1330355 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73b747ef-e56e-4de8-befa-fe264fb38c20 CLINVAR:582065 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e028d720-60cb-42fb-a2b9-f90da402e9eb CLINVAR:582065 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a72045c8-6ec8-4fda-8a35-275c194d8103 CLINVAR:161379 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a021ece8-c355-4c3d-96ad-2950546c9a85 CLINVAR:161379 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 694ae610-ee32-4fa5-b70d-7521ff68c862 CLINVAR:133194 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 47c74326-1277-4cab-b474-cbd0591eef32 CLINVAR:133194 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25e37690-bac6-43cb-848f-38e3c745deea CLINVAR:133195 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c0ad7f60-4b70-48ea-82f6-034ea8c1c516 CLINVAR:133195 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b68ad62-2e64-4002-9e42-63781fb356ef CLINVAR:133196 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 81cf0ebd-4b30-4c25-8476-ad5ecd9fac1d CLINVAR:133196 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de927792-e902-474d-84d8-99a7353057a0 CLINVAR:133197 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 01282c70-823a-45b6-8943-1934ea858706 CLINVAR:133197 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26f295bd-dd4b-4272-94cc-a2f02325aafe CLINVAR:133198 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d88c206-768e-422e-8bed-35ec5e55be23 CLINVAR:133198 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21242d24-adbe-4754-a31e-5919caac7076 CLINVAR:133201 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2dd72b84-23f7-4ca2-b0e0-e5824e6e27eb CLINVAR:133201 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b8fcf1a-fe9b-40a0-8c61-cd15ffaf5c5c CLINVAR:133208 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d5b522ac-4197-4d69-8ae1-34ce9de3a2c7 CLINVAR:133208 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebd9fcd8-7927-4ae4-bdd5-9a1bbb8b8413 CLINVAR:1056224 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 13823154-057c-4c24-9f30-d8e656cfaa73 CLINVAR:1056224 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3312dea4-4a89-43ee-93f3-30da4245c4ca CLINVAR:133211 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 18a91252-ced1-47e6-942f-5c70f264db1d CLINVAR:133211 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f6ebd61-4b32-4e7b-91f2-1ad79b23dc8a CLINVAR:93291 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a56c2933-569a-4d17-b604-0cb56c140610 CLINVAR:93291 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01f0936f-7ea7-4414-8cfb-0ccd9dcb292c CLINVAR:654130 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd210887-2d25-4026-85af-f358e8e15d0b CLINVAR:654130 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e88ee86a-7aa4-470e-9b3f-7e6fea2d2f46 CLINVAR:1330356 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2c9d5615-755d-4354-8ac7-b47c1e592edd CLINVAR:1330356 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65412617-b53c-4079-ae69-c759d917ca41 CLINVAR:133212 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a2721b3-0f1f-4fbe-bd0c-9c283419976e CLINVAR:133212 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 124e2894-ede6-4429-b386-40338e24f4bb CLINVAR:1330358 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2faf2488-ced5-4187-9988-8f50186532b4 CLINVAR:1330358 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b40e37c2-f22c-42a4-b68d-236d46e006e0 CLINVAR:872586 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9cce4258-5145-4126-b5ae-81ea6bf9c631 CLINVAR:872586 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d016a7b0-865e-4dc2-b6fe-8e70b4fbb83f CLINVAR:1330359 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2006998b-3ca1-4988-b5fd-af2ceb658b15 CLINVAR:1330359 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b46b00b-4927-40e0-bf43-be3845c70336 CLINVAR:133217 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1f290929-d429-4e73-a8a2-bc231b032dde CLINVAR:133217 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d94554f-7785-4b31-86c0-fe180f4ba30b CLINVAR:1308515 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e35e05e-4867-4906-af92-8cd60e2c4020 CLINVAR:1308515 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0803bb2e-2eb9-4e7e-8972-c9e1e196f91d CLINVAR:133218 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cbb74c73-ba83-4911-9857-356842bf7313 CLINVAR:133218 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52db5037-3207-463f-adc2-3695a2214850 CLINVAR:133219 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 603284ad-8033-4b34-8fed-62ca969ea3cd CLINVAR:133219 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 485fd9b6-a5f7-4d0a-8d87-653b3fd967f5 CLINVAR:133220 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3e53941c-5ec3-4bb6-9f2d-abd7c69dd4dd CLINVAR:133220 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 459668d1-9705-451b-85b5-b13d0774c3e1 CLINVAR:133221 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 64734636-3700-46c4-9c1f-cb57f4fc7640 CLINVAR:133221 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26da04be-49e3-4c6b-ac7b-d01ab811722a CLINVAR:133061 biolink:causes MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 78727a1c-a244-480f-85c4-83abab320ea6 CLINVAR:133061 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ead602e8-c2b5-460c-a8b7-f7ca50a5948f CLINVAR:133160 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c2e4657-c093-4674-a7d7-35f7f04f1a68 CLINVAR:133160 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e789558-404c-47af-9781-486b2e9737eb CLINVAR:133226 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fbe8b389-9870-4e65-bce0-d8780f3b3e2b CLINVAR:133226 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ea476d6-a779-403f-8cfb-f2ed34f955fd CLINVAR:1330360 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 49ac157d-df0a-4bb5-8b8c-eda62749b09e CLINVAR:1330360 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dfefd4e-1d32-4ef5-8167-14d87588f81c CLINVAR:133230 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 52526e5d-8665-45b1-be5c-cf9dac133a8b CLINVAR:133230 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f385403-f058-4e3f-bd14-248d37caab4a CLINVAR:133232 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 01eeaf37-2389-4ba5-91f3-ceb860eb3b91 CLINVAR:133232 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ac8d0cb-2b52-44d4-9a90-9c7eec1068b7 CLINVAR:1330361 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8579fed2-065f-41f7-a274-32c074269371 CLINVAR:1330361 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6da8c352-3a71-4cb8-8f94-8c31bc148912 CLINVAR:1330362 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen faacfc5b-627b-4ebc-8303-08990ba6df7a CLINVAR:1330362 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9eb6a2a9-fb98-4935-a7d7-82f7e5f3b373 CLINVAR:1330363 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c734d5e5-16a2-49e1-b904-e216fe4042db CLINVAR:1330363 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a10297f5-e562-43eb-9413-3d8cde1d65e6 CLINVAR:544516 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b696eac-73f2-4393-9bba-28a1e5c1862e CLINVAR:544516 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5133b45a-7bf3-4238-b0de-8b3077bd0e57 CLINVAR:1330364 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 13b498cd-7ab7-4170-864d-9e7d11f99882 CLINVAR:1330364 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bd3f9d3-5790-494a-a6de-47b8a62b14cb CLINVAR:133241 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0924a8df-3ec8-4e08-b4de-e8a04d7e2a12 CLINVAR:133241 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7607a9f9-5c05-448c-b3ad-67162a399101 CLINVAR:329090 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ac1fb132-56a2-4110-97f6-73a80be8eb35 CLINVAR:329090 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06e62fe6-c0f7-4973-8c8f-cc7dba7c01ff CLINVAR:1330365 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 12815676-ba3b-4a87-8e64-06da7a861782 CLINVAR:1330365 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf4558f2-80c5-4aec-9da6-53b46b9f756b CLINVAR:1010267 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f2f4b8af-556e-45b7-ba51-52d2a5798f16 CLINVAR:1010267 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17dea105-0040-4a5f-912c-b0fbe61cc3e1 CLINVAR:1330366 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 03eecd14-aead-41c8-b176-c8d216d96464 CLINVAR:1330366 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 001e00b9-d6ae-43bd-a1b0-6b8aae9105a1 CLINVAR:1330367 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 82c88d08-ea05-4bc9-89e8-c861f66b50b1 CLINVAR:1330367 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 887d4f8f-9e69-40dc-b21a-0e6380a3c5cb CLINVAR:1303276 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c2b78be-93db-45ce-b9c7-4d66caf249ef CLINVAR:1303276 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0e99145-7153-441c-9f31-8bc0543470e4 CLINVAR:1330368 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ead2b31-258a-4054-8345-8decefadf259 CLINVAR:1330368 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c69fb6ff-faf4-4bf9-a252-914eb516f549 CLINVAR:1330369 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cfa346ed-db63-4b0c-99d9-35b51a2f1c47 CLINVAR:1330369 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 911d74da-5a05-46cc-9156-d1115ee03234 CLINVAR:133070 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2698636c-c4d7-46d1-9b3c-b0b3bb3e34c7 CLINVAR:133070 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6d1dd2d-058f-4df3-b755-8b8fe697efe2 CLINVAR:590630 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73865afb-dd4e-4568-9b1b-e149ef90535a CLINVAR:590630 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2773fffe-a90e-42c9-9bc3-dec186e2b29a CLINVAR:429750 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 40446984-f325-44bf-bbfd-1d8b08e0cb5e CLINVAR:429750 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9702e8d8-9db4-45a1-9e60-5a7ab77773e7 CA400029525 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2efba0cc-0a46-46a9-ac5e-7fd88798a8b4 CA400029525 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31a009bd-b88b-420b-a1cf-160dd698fc03 CA399790170 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce6e8a1d-8824-4264-b05a-b2f4a8bf3a64 CA399790170 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1628ee0-8a93-42b0-be13-df7fa9cf633a CA915940727 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f951936e-ceb2-44a1-9c9b-ee2bbde87122 CA915940727 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11da5aa9-939e-44a5-ae31-04fe59b60ff1 CA400029121 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen de2199be-b38f-4aa1-b29d-d7ff1e4d746b CA400029121 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 813ae2e4-e7e4-4354-a148-94e796c2e881 CA400025209 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bd4e2a0e-e96f-4cf6-a899-6c274e09e7b1 CA400025209 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d51eb23-d674-4fe1-96dd-da16bc361678 CA915940728 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4745b3c8-c83b-4741-bc3c-6d0289eda3c0 CA915940728 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35340c61-1c2b-4bd1-84a3-4f8954bf62fb CLINVAR:695455 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 966910a4-af25-4573-b1f7-8e9852e6f902 CLINVAR:695455 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11be2941-b821-4f3e-89b3-d953cf6c5ea1 CA2499306877 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 63c83ec8-5ce2-4d65-9f6b-8bbae7c4b11a CA2499306877 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dd5ea70-c867-4c6f-837a-b5c5188680af CA399802112 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b9bd5af-0c38-42da-b7e2-27541e9e50e7 CA399802112 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a8e8fd0-e471-40dd-b5f8-479909f70c95 CA291224999 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0cd488b8-2916-4ab9-ac25-af55d8ff7ef8 CA291224999 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0002ad93-c20b-4b65-ae03-cd3eb1460d91 CA915940726 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d875e4d3-7371-47a5-8494-5cf36385d569 CA915940726 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46ac08e9-3340-4509-90ff-dee333c856d1 CLINVAR:13565 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9a590078-0a07-4bf7-8386-b7d818d5b61c CLINVAR:13565 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfffdb45-532d-41a0-a129-ebf3c799d4b5 CA626684825 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba937c10-2cf0-47d2-834f-0edac9c2a813 CA626684825 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3dce8fc-649d-499e-a8bd-91f2f621271a CA400028591 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cc520048-62a1-43f8-a65e-b632c19500f2 CA400028591 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af4e2f8d-6dfa-45de-8c63-9f92ce467b61 CA915940291 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f7398cdd-e2c5-415e-8768-3fc0d7589847 CA915940291 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc840f99-03cd-4174-9477-36c03237b5d6 CA913012619 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b589361a-6527-4981-97fc-19b67c595d29 CA913012619 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9204c9b-9e5f-4f5b-bf61-1a458ffb88e3 CA399805570 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c02ec915-f677-4510-829c-c21c7cbd3924 CA399805570 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2b578b1-d329-4f64-9a16-441c58501088 CA399802403 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 79401e38-d189-4281-add5-b11876380f36 CA399802403 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f823c72-4e9e-4d7f-a25b-a512437c838d CA923726222 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 45960849-7f20-43d0-a58c-06b584e73c58 CA923726222 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29d376bf-7460-4843-83b5-0098e3658cbb CA923726221 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 87428e62-6339-4a93-b7bd-97c9b20cb618 CA923726221 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 080abb89-1a2f-4c75-9541-d03d03c8ff48 CA915940256 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 078b26b6-1136-494e-8f9d-ff3fbb929f9c CA915940256 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98bb0872-f414-4afa-931c-5cc6ca4e14f3 CA915940255 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9393eb6f-912f-4f08-bb9e-162e9e5fd4c1 CA915940255 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6dbf0c8-ad7d-4d33-9552-4c36bc82a88e CA400032429 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d602d656-731a-4bc5-80cf-7714d28ff791 CA400032429 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ec46007-c664-456a-93e5-c344cc3ad0a1 CLINVAR:13556 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1f44810b-2ab1-49f3-aa34-cacacd63efc9 CLINVAR:13556 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c6aaae1-d595-47a7-8ecd-e84dd80fbab4 CA399802643 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d51419d4-171a-445c-9335-5cd2c0e95bcb CA399802643 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c9f6d44-e4d6-471d-bcf4-b0febb796989 CA8622881 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b51749b-56b5-4537-bffa-caa3dc1daa20 CA8622881 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15fcd57d-0fb1-427e-bb0b-614d5dc05f0b CA400023445 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0bdf6d2e-6ba1-4d16-b21e-ea87cac1b525 CA400023445 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 457e8c8c-2418-465d-8b90-9eb90670efb6 CA399801004 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec7f7e84-8962-4ec8-ae42-0b8b562b95fe CA399801004 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d280473f-6bc4-43dc-85c6-cf790a3a3b86 CA915940253 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c4451dbd-5446-4cb9-be9c-7dc423ee4201 CA915940253 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0ef3b94-bb6d-4c42-8923-4bd265fc85cd CA400025098 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8fb35bba-f5f3-400e-a983-802bece532ae CA400025098 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b50cd575-025b-413e-ae0e-70e94e209bd7 CA400033923 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0e7d417b-d754-4e18-8d62-57b69d322270 CA400033923 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 956720c1-a4c4-473b-b252-b845a1c8d8a5 CA400032983 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c4d5f998-ca6a-4ccf-94d2-092d96224c23 CA400032983 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9602f9e-e501-4cce-99e8-bbb20a494201 CA400024802 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c7e1e7cc-9711-48ef-be48-4e8b96b1f506 CA400024802 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92c3d3cd-657d-445c-b7c0-0dcc61c8cc33 CLINVAR:13562 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1d8670b8-da09-463a-bc89-ad0424d8003b CLINVAR:13562 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4207452-d770-4801-a515-50c18692d570 CA915940237 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9474c149-6ee5-4db3-b03d-53b05d79de40 CA915940237 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04e9dc97-e594-412b-bb82-6709010cacfc CA400024922 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9190eefc-6dad-4b31-b269-b08a9ed5d278 CA400024922 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 107d36b8-b099-4e60-86a3-e5ff6d142a37 CA400021329 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2d292779-a9b4-4a3c-85ae-e603e66b1dda CA400021329 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aff95b6e-f3e1-4673-a733-0f39a814d052 CA915940309 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0415101a-033f-4b8d-9812-82058a745335 CA915940309 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5118f934-3e34-48fc-befa-39561118acef CA399805691 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e46cad8a-3f1d-4f9b-beec-a6ba586752e2 CA399805691 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c90a062-bad0-42f9-9efb-68866955f9b6 CA399798895 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 513cce34-f6c6-48d7-b99d-6cc4ced90c58 CA399798895 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b81acdf-a6c9-467d-99b0-09b04406eb0f CA399805123 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8c1bc2d3-5019-4b09-ac65-7a242668ad84 CA399805123 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e226639-5999-4e24-bd2e-495c045249e9 CA399805484 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4b265fc9-f27d-4707-ae1f-34ba0a1968cc CA399805484 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ce87e0c-7905-4e4b-a70f-a8d95846f23e CA399805552 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a05661d-9a82-469f-91be-d6cb100a6882 CA399805552 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a61d37ee-1771-48c0-ad72-156d005c2d6c CA399796017 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4108dd0f-481a-4e08-9d9b-fab9c627f894 CA399796017 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aac367ae-27c3-40fb-a484-fe53d5d69e61 CA399787956 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05118c23-d295-41f5-830d-fe38c8dda671 CA399787956 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9a339bf-6d79-45ae-b554-9ab620fd72a2 CA399799849 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 192282f9-e08f-4706-a2e3-7a0129a0651d CA399799849 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4d6f055-a20b-4513-8491-d97e65ebeef1 CA400030376 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 69d9d376-adcd-4993-be95-939bce08589c CA400030376 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07a2132a-8c9a-4069-9b93-f9188fd45f6e CLINVAR:189776 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eda7ce97-e34c-4bd4-9cc4-b7a50b9a4c43 CLINVAR:189776 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8b78f87-fc5a-4beb-a14a-cd03fee7c4c7 CLINVAR:197244 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f76073b7-5616-408a-8ae0-7426ede290dd CLINVAR:197244 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f75220f-d5db-4353-b965-527b116036f5 CLINVAR:156661 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 94e3aa51-f707-4dd9-af2f-89599890fd90 CLINVAR:156661 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e32b4ec8-c902-4844-8f77-959ce43e3b19 CLINVAR:143475 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9325e841-ffa3-4b61-bea0-22ca23c43ec5 CLINVAR:143475 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 713aadca-9839-4ad3-8074-14fee3779be5 CLINVAR:156628 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba48680b-97fc-45a1-9e86-744ba19cbfdd CLINVAR:156628 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15c8890d-14fb-423b-9db0-486363034311 CLINVAR:143700 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c2009fa4-eae7-47c3-b8af-2d7d1d205c90 CLINVAR:143700 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31a18534-1a63-41bc-af0c-c48f01da527a CLINVAR:143563 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 57e3ea25-a7bc-429b-9add-ff8e30b77c4d CLINVAR:143563 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29aef50f-87a3-46ef-8fcd-0eef3529acd6 CLINVAR:143679 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7567cbbf-7cc1-430e-93da-70ebb98c0ec8 CLINVAR:143679 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b1e69ae-3af8-4ed5-a5bd-d30c0c44fad7 CLINVAR:143590 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9cec9edd-db28-4cf4-accb-1df83d6f1aa3 CLINVAR:143590 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44ba1222-06e4-4939-8789-0188221259ab CLINVAR:143583 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 420d2f1a-63ea-420c-952c-32186d6c0d02 CLINVAR:143583 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 484ed400-0df5-409d-a7ed-dbbcced469d2 CLINVAR:143579 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c0db6db8-f626-407b-b7aa-6f6cba24dc9a CLINVAR:143579 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3bf9ba0-2b3f-4a0e-bc83-403671f84538 CLINVAR:143564 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 19105832-eb2d-4e79-b62d-e12b24ded79f CLINVAR:143564 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1487d2e6-f75a-4592-acce-1df47d813110 CLINVAR:143559 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e8b095df-df71-4598-ac0d-39b0ce9a6f88 CLINVAR:143559 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e573a8a9-c5fa-4afa-83ed-a70229899b0b CLINVAR:143552 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a2f3030-0c74-473d-815f-f60c2cabf73d CLINVAR:143552 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2ed6e02-b366-4745-b491-1a8f78fce605 CLINVAR:143546 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b0dfb77b-a955-4d54-9076-f7c0dca3e04d CLINVAR:143546 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a61f4c9-b3ad-4b38-8ea1-0531e0c343e6 CLINVAR:143541 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a5033e2b-65c7-4f9f-85ac-390cae1ebb1b CLINVAR:143541 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3307e586-2fbb-48ee-894a-b93b26cf9dff CLINVAR:1334145 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 972caff6-383f-467b-8dfe-38a79f9fa3de CLINVAR:1334145 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e0d1ad3-e74a-4c8c-80ff-9d2c6d8edb0b CLINVAR:1334147 biolink:genetically_associated_with MONDO:0010894 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4cc9d678-e51c-4a8d-b3d9-a9528260736e CLINVAR:1334147 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03db779a-5f40-400b-bce7-b5b668303cf4 CLINVAR:1173962 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7fdcefac-06ee-4ce8-b87d-a6be887ca173 CLINVAR:1173962 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd2124e7-d390-43c0-be38-5af70e1a2961 CA386954873 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4b35cb4b-7596-412b-817b-87c69abcf04b CA386954873 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94f56633-edf3-42d5-a40f-081a3b626ff2 CA386954880 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1697bd7e-dbf1-40a5-890d-1d3902eb7632 CA386954880 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82276fe5-8d4c-4655-977f-cc21e6f58754 CLINVAR:805632 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5cf9e1e-4264-41f9-b060-3131cf178bb8 CLINVAR:805632 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc7ec199-b2f2-4452-9c48-4cfe5cf80f4b CLINVAR:586792 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2c7d73b7-5c45-4b5b-8bd8-1f61d4b034d3 CLINVAR:586792 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc2b3367-b701-4f0f-bce8-893537fe5ab8 CA6831699 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1808647b-bf67-41ad-9d81-162c4377d3d3 CA6831699 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccd92d93-b0e8-4d06-8b9a-d41063efdc90 CLINVAR:36826 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e3136278-1505-4536-8871-ab31a6c26789 CLINVAR:36826 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40066b74-ed7c-42f5-af71-cff4fec42880 CLINVAR:420064 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b5b554f1-bac4-4403-9347-7af2bced4ab7 CLINVAR:420064 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 049eee9c-7412-440f-bbc9-ceeb81f3f575 CA386965163 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 83d155f3-f2d7-4ef2-bf9d-e5320bd0a7aa CA386965163 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa6c9889-4adb-4b52-9f0c-c7ef040ff52b CA386965448 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen baff8ef3-ca4b-4fa2-88e2-e4fb0bd4a79e CA386965448 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a679648-8c23-45d0-be0c-d52f2bc4d292 CA386965434 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 713b5891-cbe0-4b3f-912e-8a3c40723365 CA386965434 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 441396eb-07cb-4a3e-bf7c-d734533be77d CLINVAR:972754 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0ce0e4cc-625f-45fe-9293-f717c3157528 CLINVAR:972754 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f093567-5073-4c50-abdc-7a1e8370b424 CLINVAR:447499 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f066671c-1c87-4af0-a007-bd1f0da1da80 CLINVAR:447499 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f944582e-4937-4b40-8668-57cc0d5d5254 CLINVAR:435424 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 16e98bfa-f2ed-4312-8a52-8adcf4284720 CLINVAR:435424 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae7be177-9dac-4244-aea7-d2c2e6070969 CLINVAR:972814 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 230d90a4-d5f4-41d1-97af-8636942afc19 CLINVAR:972814 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab513c10-f769-4c56-b71d-a2a49a12756b CLINVAR:805637 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 386933b5-1a3c-404b-b399-9f7f67d09268 CLINVAR:805637 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e24987f-d437-4fb2-ad29-346117902ea1 CLINVAR:129226 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33159053-a10e-45bd-8900-739dcc6ac515 CLINVAR:129226 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ee353e4-dfb1-4182-9752-b496680911dd CLINVAR:36796 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5ce65a3-a2d3-458c-9f25-6e1dbc333a8e CLINVAR:36796 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50ce3be4-993c-4a9f-91d7-1e3ec3f7ab6b CLINVAR:435426 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 84f4f4c0-abea-4a14-8b67-5e36d201795f CLINVAR:435426 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2811bd46-f2a0-447d-9134-3c68235f882c CLINVAR:36797 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b3544d65-ee78-4e06-b257-e60ed61373d5 CLINVAR:36797 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c99cccd9-94cd-45e2-a652-21443d724bb4 CLINVAR:14928 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6cd6bede-514b-4cc9-91a5-d4e77285d244 CLINVAR:14928 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 798f7f30-bfdd-4d22-9da1-5bef6ba7509f CLINVAR:435427 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b0be44a3-4420-4035-af4c-7c7f9f1a7617 CLINVAR:435427 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce2bf2c9-6df2-449a-9384-80a0d1774d4c CLINVAR:489311 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1d06b5f1-801a-4046-beec-8123e800716f CLINVAR:489311 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df7b38ff-a7d2-46b8-a199-966b769c3cc1 CLINVAR:449404 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6d83b471-ba3a-40d9-acf0-663b0f32dc64 CLINVAR:449404 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b31194f1-4fc9-42f8-bdd7-bdfb80f65503 CLINVAR:14947 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 86b3dcea-0dfd-4270-aab6-89ac07ed9452 CLINVAR:14947 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aad5537d-6d48-4219-ba4d-d42dc21c29f7 CLINVAR:156667 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 677e2d80-042d-43a1-a124-34761f13e0e3 CLINVAR:156667 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95a8a03a-86c5-46f1-bcaa-ba70447d78aa CLINVAR:440546 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 754059a7-9594-4638-814b-bec118f3ff34 CLINVAR:440546 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beea002f-cb52-4a24-b4e5-6e7a30de6916 CLINVAR:440552 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e15f5967-e194-47a3-8840-5b2d5ac09e6f CLINVAR:440552 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35c08c5c-1781-43e7-b387-ee4e625a5956 CLINVAR:161266 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 447f1304-f2a2-4d98-bf79-a18f10f6b944 CLINVAR:161266 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f66bd575-3b67-4b65-8c18-8c634ea42eb2 CLINVAR:251213 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a9f58446-f2be-4067-af3d-bbf1b6590744 CLINVAR:251213 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e2951c7-948d-468c-9cac-898956274605 CLINVAR:251340 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 21886766-5de6-4b6c-b1ef-e5e6f3b40d7d CLINVAR:251340 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c695550c-5d55-46c3-afa6-3e6345ae5342 CLINVAR:430763 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e3aa11ed-ae4b-4aaf-a076-2b4020643f30 CLINVAR:430763 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4de14b7a-f782-413c-9193-75ffecaddb1e CLINVAR:251471 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 65000585-eb67-44ba-a662-00c0f176a084 CLINVAR:251471 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fa731c5-284e-44a1-8457-098873d88e2e CLINVAR:631358 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1812b8c-83ea-4dc3-98ed-13c224adf278 CLINVAR:631358 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86c0c1d9-ca98-420e-a8aa-32dc8b7578da CLINVAR:252137 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3e177a66-6bcc-470f-97f3-807d760eecd9 CLINVAR:252137 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeab35c6-d286-47d3-96a4-ff0760dbf7ab CLINVAR:161277 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1fdc4aa9-01b2-4d3c-ae1f-40dff054d6ef CLINVAR:161277 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df3e5a1e-6408-4d4e-b11f-16054d3c2e13 CLINVAR:373430 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c1b18c71-efe3-4d82-a8ba-f1bb77aca605 CLINVAR:373430 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12fea8d3-c6df-41d0-b9b9-9f63e9a751ff CLINVAR:251739 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68cdd093-da23-4ee2-9192-b9f50ee6b663 CLINVAR:251739 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb397dca-51bc-46ce-bd16-5d219d93ffd5 CLINVAR:251740 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 959e495f-3031-43d5-b47d-99972b583476 CLINVAR:251740 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf7067f3-128b-483d-8db0-185617e736b6 CLINVAR:431524 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b02d45c7-df11-4a3d-bfa4-be4c6fa65846 CLINVAR:431524 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe29eab9-ddba-4629-adc6-ae8b8620cdc1 CLINVAR:226313 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 27eac47f-7237-4253-9fc4-fbdfd8b6923f CLINVAR:226313 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b858eb1f-ae51-4695-8b87-b4433263faeb CLINVAR:251107 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 489fc8ae-8ac4-4c8c-a512-c4e22d7c91c5 CLINVAR:251107 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7f0b8b5-ab4a-4430-aee8-13395a9aef19 CLINVAR:1334146 biolink:genetically_associated_with MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 415520a1-aa1a-48a1-8764-3be5e012ce1b CLINVAR:1334146 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f029b12-d8ac-413d-b47c-a7755c131a53 CA405685492 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ca512f21-b90d-47f7-8093-1aeda1eff8c2 CA405685492 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfb1d7de-7897-4d19-b8ee-8ab86d74bef8 CLINVAR:1330371 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c3cd259a-2089-4ac6-9f23-0c205b67c30b CLINVAR:1330371 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24894a1f-c70d-47b7-8ff7-310bd6a86ee5 CLINVAR:133100 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4b5add31-86ac-4154-87a6-5ccf772e6780 CLINVAR:133100 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a5c7a0f-4a2d-4923-9a55-d6b69f8620f4 CLINVAR:65986 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 95ca5ed2-c61c-4b9b-8c6b-1d8332f91c02 CLINVAR:65986 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48fb98cd-04ea-4baa-ac4c-06b48bd57dcf CLINVAR:1330372 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e4b853a1-9464-499e-8e1a-2455451d796f CLINVAR:1330372 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aefeffe-506a-48c6-a261-f8d22634ee16 CLINVAR:161366 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5cb6cf7e-5235-4b77-8dad-63b88f02f30a CLINVAR:161366 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca34de45-aedb-433a-8da5-3d688ac9f165 CLINVAR:133164 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 50d27020-6667-44ec-bdff-73dfc45305db CLINVAR:133164 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e7daa9b-82ab-473d-be30-40f9050c276b CLINVAR:12984 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen efabd547-6547-41c9-89e6-b1a2979ed2b6 CLINVAR:12984 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50f9ec54-48d7-42e1-973d-40178255a5df CLINVAR:374083 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6ed4e61f-e375-4378-a021-c2a65683e444 CLINVAR:374083 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9516e5a4-95fb-41dd-ba55-62e9fe7ff9e4 CLINVAR:12982 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 20e5c0bc-1b0f-4dcd-8769-21ac1bf29eda CLINVAR:12982 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e24c1923-8d5c-49cd-b6b5-ae8987b8c2a1 CLINVAR:159865 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 46a336ad-5a44-4d0f-ae77-147e98fa158c CLINVAR:159865 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19b9d251-6391-47a3-97c4-aa58a7dc2a36 CLINVAR:329095 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 979163b2-7d89-4af9-9219-8070b6f0ad2d CLINVAR:329095 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fddbb08-f256-4615-abf4-909df102d3f3 CLINVAR:12972 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2524f02c-0bda-4a80-b267-e915d0d99885 CLINVAR:12972 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a2480b2-c85e-4183-80d2-543ea4e81922 CLINVAR:188773 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9805df42-a2ff-4493-8dc3-1877d6402c6a CLINVAR:188773 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49f9f01b-d6ae-4da4-916e-479d0bd2167c CLINVAR:371126 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6c54c235-577e-4a15-a6fb-24efdc99b564 CLINVAR:371126 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f39cc173-edeb-4221-bc29-7cb8a048f02c CLINVAR:933520 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 582db76e-b288-4861-8597-0af58dfc3889 CLINVAR:933520 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71f75b4d-f08f-4e96-ba63-1ca96a659db2 CA401360532 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c686d6be-b0d5-4238-b3ec-e9e2ba4b92af CA401360532 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6246d7f6-9941-4b34-bc2d-0f85caaf2ac2 CLINVAR:12977 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 34fd89ce-832b-43c4-884e-aa6526f21723 CLINVAR:12977 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dde812c-b86f-4c2d-b4ea-2d5356bddcb9 CLINVAR:12971 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1277651a-7f20-4fc7-aaf9-a4ac918b4bba CLINVAR:12971 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d7ea481-8459-4d84-86c5-e501b3d434f8 CA399805999 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 61c8740f-7ba7-4f92-a75b-a09a2d12d6c5 CA399805999 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6fe5f7a-a03f-496f-8203-5d50dec5cb53 CLINVAR:1342944 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 656b376e-d098-47be-8362-d04eff0e7c41 CLINVAR:1342944 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e299750f-5529-414a-ab1f-9b8dec562ed7 CLINVAR:447502 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6a391e03-e4b3-4804-9817-388fa7196356 CLINVAR:447502 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb23e27e-7d71-44d6-96da-49211ac45aff CLINVAR:251582 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 68c3a41f-5f52-4848-a941-62eb5b1815f7 CLINVAR:251582 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45be2492-bbd4-4853-a34d-3b800af15e8b CLINVAR:251812 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0dc80d11-b8ee-48f4-ba25-4a131bd2041d CLINVAR:251812 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d89317c-2823-4609-b032-0ced8d39708f CLINVAR:548076 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cdc5fdc1-e99c-44cc-b89b-3c4109eb7bda CLINVAR:548076 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4496a2c-71f7-4a7d-a683-1337859b7a87 CLINVAR:440642 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ed583d03-6ef5-49d5-9b0e-6689cadf2476 CLINVAR:440642 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec7986a0-cbd9-43c0-81eb-932636314a92 CLINVAR:375840 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 89414093-efec-486d-9935-4afe6b539598 CLINVAR:375840 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43731f22-fd4f-4132-9bce-94a6730fcd70 CLINVAR:963080 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 93f40dcc-4923-4183-b79d-1dc83d67161d CLINVAR:963080 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 541e988a-c6be-4d38-a92b-28cdd39a050c CLINVAR:183126 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ccc2725f-4c4d-4eb7-9412-168c4b6c5eb9 CLINVAR:183126 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3088b429-2d11-4b66-9d1e-e7be98de42e7 CLINVAR:252029 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 94458e45-7d46-4fec-9675-315aa0a4f17f CLINVAR:252029 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bce9e1d-ffbb-409c-9c6e-67796c7678ef CLINVAR:293715 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c1062f8e-89a4-4d97-9e7d-ad6ed9efabea CLINVAR:293715 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76d113be-b39b-498b-a49f-3d21c7891907 CLINVAR:1342952 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 052a2577-4c2f-48ac-90f6-6dd9ea4ed89e CLINVAR:1342952 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c629c7f-6c94-48c5-8a80-e599c1560fe8 CLINVAR:1342953 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 516245a1-9f8f-47d9-9659-60590e53f0f8 CLINVAR:1342953 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5321f5c-2f1a-4ee1-ac9e-679e4716b783 CLINVAR:1342954 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 00824f69-12ff-459b-aee2-34c754fac758 CLINVAR:1342954 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd31051c-2bd7-4b81-9860-78832039ca04 CLINVAR:1342955 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 314de376-dd03-441d-a834-fe647c024823 CLINVAR:1342955 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 130bdb29-1359-496b-a263-a3433153a6ec CLINVAR:1342956 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 43f0f246-f468-4dee-a601-201ec1db1f93 CLINVAR:1342956 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17e8741a-7d80-45d2-8f9e-2c7aa40185b7 CLINVAR:102812 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2b3381a0-4d0c-4d84-aad9-c5d2416dadfe CLINVAR:102812 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64f7bf5e-3e13-4a53-b348-9612c81ed041 CLINVAR:102887 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5d57e25c-d2ad-4d52-bb7c-d067c6d58875 CLINVAR:102887 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92bbf44e-8d62-4a40-88de-165354bd1d61 CA386954870 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 96c54f7b-8a4f-427f-b725-7485a1be428e CA386954870 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68fbb917-e079-447e-ae2c-995c569c3351 CLINVAR:1342958 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 105ac8e2-9a94-444e-85d2-cd09fdd8d283 CLINVAR:1342958 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3683757-0077-408b-8226-9da2f03baf9c CA16020959 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c259c6cf-14fe-44b7-9fb9-0baae9edc01c CA16020959 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fe4330f-f8f9-42ca-ad3c-2ed932542a16 CLINVAR:102923 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c25d0986-7cd0-41af-a681-f5d8942afe27 CLINVAR:102923 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f487fbf0-6415-41f8-b9c1-ae89f5776f07 CLINVAR:102862 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 29d5b7fd-c751-4f42-a864-9c9473c94e09 CLINVAR:102862 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9746d410-2a55-43cd-a12c-479d7b9a00ee CA16020979 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 614e7be8-e097-4384-94cd-992fd270a05c CA16020979 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6c0e093-7d13-4723-a201-b285331bd376 CLINVAR:102468 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a2977f71-f018-4061-a133-c65b6ab73272 CLINVAR:102468 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c7848e9-755f-4856-b7a3-1729aeee3d8c CLINVAR:102790 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b1af305c-d52a-4e30-a6c0-c6f2c0a599ca CLINVAR:102790 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 071092a3-8d17-4355-8621-832246520e64 CLINVAR:102791 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 39def2f8-854e-413f-a8cd-2ae6e59adbcb CLINVAR:102791 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c526bbc5-5be0-498f-8811-b5e0c0bc3b70 CLINVAR:102801 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen edc20b3e-bf44-4de6-9fa8-eb54d52a2f9b CLINVAR:102801 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8677f57b-1580-4fad-a992-2f1bd4ed3374 CLINVAR:102802 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2100e689-c180-4c65-965f-59b98071cdcd CLINVAR:102802 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7044bfd2-3d2a-4517-b627-a966d59a67d7 CLINVAR:102809 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1ccc6a74-3242-444c-90dd-d0d1be58437a CLINVAR:102809 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36e749fd-a245-41a8-9381-f67747282cd2 CLINVAR:1342195 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6c931cd8-0a2c-4e98-92b6-31a8b237244e CLINVAR:1342195 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 777e8bd0-857e-4af1-a41d-8aece3e5d20f CLINVAR:1342208 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c6336f97-9142-46aa-978e-0e8aff78290e CLINVAR:1342208 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6056607-522f-49a0-8b22-a2e230eef3c2 CLINVAR:1342209 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2ee10c6d-0e8e-4983-8ef0-c36355b004f4 CLINVAR:1342209 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6449fa38-bfde-40f2-93f7-f67df87aebef CLINVAR:7959 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e58a1157-8d3d-4137-bd1b-adedcbda8123 CLINVAR:7959 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6980db40-304c-419d-8822-bcab771c0d76 CLINVAR:1342210 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4fddd32b-a625-4006-aa94-3d5d7b5c3cb5 CLINVAR:1342210 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74c81a44-e61a-4074-9b2f-9ab32389617e CLINVAR:1342196 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen acc3cabd-5b26-4e5a-b9bf-d4715fa122f6 CLINVAR:1342196 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c713a7b-df06-458a-91b7-8f40fb96921b CLINVAR:7960 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5e906ef1-30e3-4b8a-a958-fdc5217d0456 CLINVAR:7960 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c639e1c-62f1-4949-ab50-fb857d6dc373 CLINVAR:1342197 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 020818fb-dfe2-444b-87e5-8ecb2ce80111 CLINVAR:1342197 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88f890fa-7af2-44aa-b90c-38ea26033a90 CLINVAR:1342198 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4ee48ef4-da74-4b4a-9035-e0daa52824cf CLINVAR:1342198 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bbe2cfb-2f32-4d0e-9fec-a240d2cb5675 CLINVAR:1342199 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 554829ad-854f-4433-8234-d94bd484f68f CLINVAR:1342199 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dde5f135-cae3-4925-b711-9c1cc4e232bf CLINVAR:1342200 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bb712005-0ec0-45ef-b524-db65bd6d9eda CLINVAR:1342200 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7504187d-de56-4319-bea9-cc3c73f137fc CLINVAR:7947 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3c4a89b9-d144-447a-804a-8b653c82bb3c CLINVAR:7947 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7955a83b-a875-442d-9051-f7d9732fc997 CLINVAR:1342201 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 041bdfbf-7100-4fa8-9fbe-476b4c642f65 CLINVAR:1342201 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47792fb9-270d-4087-83d9-d48f6ba40853 CLINVAR:1342202 biolink:causes MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fc3f0f75-4b29-472e-b46c-421efce75c48 CLINVAR:1342202 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fc2b084-3d96-4b28-b28f-444f9e19bfa2 CLINVAR:1342203 biolink:causes MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ed9f44f-40e9-468d-8666-6e3051fe5f2d CLINVAR:1342203 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3727451-4311-499d-948d-f39b361eec55 CLINVAR:1342204 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 368c0b07-82e9-41bc-9279-799fcde764d9 CLINVAR:1342204 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb0e3ea6-aefd-4289-9a07-28c6045889bc CLINVAR:1342205 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9c1b54e4-616e-45b9-8306-8d296ba8a93b CLINVAR:1342205 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdd9592e-9681-4136-b1c0-99e8ed9a2840 CLINVAR:1342206 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38eeaaec-ae22-4d57-9246-ec753b3d372e CLINVAR:1342206 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddc8c4b9-ec05-43bb-9400-bf556599811c CLINVAR:1342207 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 35b56c1d-36a2-4145-845f-87c791503b41 CLINVAR:1342207 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb9c78ef-b71a-405b-b253-f1a178672645 CLINVAR:1076425 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5fae52da-015f-4c6c-9a3a-31e7dcf408bb CLINVAR:1076425 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79e647af-1778-4e86-bc05-02e3cdfbc0e0 CLINVAR:617952 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 057affe2-2cd4-4f91-86a1-b34d8611b42b CLINVAR:617952 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1ce7f1a-1d75-4da3-b756-57418a7465b8 CLINVAR:447493 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0e786936-bbdf-4990-886d-1bff24cfafa7 CLINVAR:447493 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98adb0cd-0b30-435c-b659-870c60880cd6 CLINVAR:1342945 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad8c9773-d400-4f7b-ab6f-dd49460eaf04 CLINVAR:1342945 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 223a805f-64ee-4a95-a492-2d4963c0b119 CLINVAR:189172 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 906c1585-0642-4bec-9a28-f6203ce6caf2 CLINVAR:189172 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 281e7739-39b3-44ba-ace3-32a2986a3a45 CLINVAR:558634 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1e41a00f-11f5-458f-bb8c-ee52b999f21e CLINVAR:558634 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec59bed8-1272-4957-a61b-3c2e92a48049 CLINVAR:558604 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f52bfbd2-683b-48a2-b112-9737fc688c5d CLINVAR:558604 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acde2b2d-8a70-4488-828d-1a69ca69fe87 CLINVAR:1342946 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c686266c-b1dd-4b80-b74d-8468efc2c7ad CLINVAR:1342946 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6e05e1d-6abe-4ddd-9b7c-cd5d7ebdb7d5 CLINVAR:1342947 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 82ce9d53-a484-4b63-a9cd-02340788656a CLINVAR:1342947 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa2220d9-acd6-4c25-b111-b1133b2219ff CLINVAR:307454 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f394a5ee-a389-4081-9bba-58526eb9fb28 CLINVAR:307454 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdbc0d4a-b78f-4914-8e3a-3ae2ad0e48f3 CLINVAR:1342948 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e8b4f036-5b5e-40af-8a10-0ba683ebe077 CLINVAR:1342948 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da51a92d-88b6-483d-93d7-fcfa347d82a7 CLINVAR:36814 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0b7be505-34a0-472b-805a-78f26e682e49 CLINVAR:36814 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5033fc13-a405-44fa-b46d-81880073f89b CLINVAR:502525 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc22d130-44d7-437f-81b9-338178f9208d CLINVAR:502525 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1132044-eaeb-4432-94f3-e80c07426798 CLINVAR:1342949 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eca1345e-15de-44b7-b2b1-ff1e09a4eb0f CLINVAR:1342949 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b45fe851-fdb3-43dc-b61d-da0625649ff7 CLINVAR:1342950 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bf54e1a4-1e41-4852-8b9f-4d44f0c4da35 CLINVAR:1342950 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5394d59e-c70b-4a2f-87b6-0a8991ad5d7f CLINVAR:1342951 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1aea1c54-c886-48c6-90ab-1611bbe28e3d CLINVAR:1342951 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44dcd094-e565-48b6-86db-f8a6d086a226 CLINVAR:631580 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3e017f1b-60f7-4ff6-a00c-30a98166138e CLINVAR:631580 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f66a5dbd-d545-441b-97f1-d7f102e44846 CLINVAR:1342967 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b83cabc3-6f50-40a7-8388-ffb140c43037 CLINVAR:1342967 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 136ca32d-c45a-445a-90cf-8425a6572c3e CLINVAR:1342968 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a4269f77-498c-4907-b5ec-b096d1943003 CLINVAR:1342968 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07e2145d-1a8d-441d-b02d-a75c60447ac4 CLINVAR:1342969 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0af7939c-5518-441b-8178-f22580665985 CLINVAR:1342969 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a0db8b4-c6c5-40f3-aabd-2a807f0c35f1 CLINVAR:1342962 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 929f1580-7ae6-4817-89c9-5ea6947bc0d3 CLINVAR:1342962 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc42e2c6-463d-4e58-9f13-b384fd7f6b48 CLINVAR:1342963 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2f742660-ea30-4089-88c9-45c28f694d80 CLINVAR:1342963 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 237519c7-65e3-464a-9dd6-64a47e4cb4e8 CLINVAR:7949 biolink:causes MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4c2691f5-2202-4bd9-9365-96f2edccfebc CLINVAR:7949 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 502a5452-154c-4925-98a1-f9a465f9e3da CLINVAR:7948 biolink:causes MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc7de72e-ca5f-4deb-a07c-bf710746e1ea CLINVAR:7948 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fd55ef3-2ce4-48f6-b418-5863015f0f76 CLINVAR:7961 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen acb813df-5527-4ff9-8b63-b74b48c72151 CLINVAR:7961 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9116305b-6f36-4a3f-b3c7-c34120d09e2d CLINVAR:1342964 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e6a93d41-4071-40a3-b0f7-1997c35e43c4 CLINVAR:1342964 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04fbe8d1-63ab-4629-a88a-f3f04cb360ea CLINVAR:1342965 biolink:associated_with_increased_likelihood_of MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 39784116-b587-4fe0-a8b2-d8093ba14e1a CLINVAR:1342965 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 752e6603-4e70-41ba-b92a-f3fa124f0101 CLINVAR:1342966 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a8adedf-9120-4873-84b5-6554cd9e1a34 CLINVAR:1342966 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d6dcfd9-11ea-4272-8eb5-f4a04502c337 CLINVAR:7946 biolink:causes MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8bd48f16-7a95-4f0a-9e4e-20ae818c24b6 CLINVAR:7946 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd80ea18-2a99-4d14-b7f0-30f4ae6eba04 CA397726277 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ceb972c2-df39-46c3-95d6-83b561ab40d2 CA397726277 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b6377da-6e31-4032-8b90-e89be8591002 CLINVAR:554491 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4164f4b9-f456-4918-b386-a48eee895cd1 CLINVAR:554491 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff34dacb-b61b-448d-ac9d-ab9cced32545 CLINVAR:189159 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b73f876a-1bd6-41f8-a7fe-586ef6d6c5cb CLINVAR:189159 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68d70086-20f9-49c8-9764-28c27aa12cce CLINVAR:474900 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 44069131-0fe4-4958-a18d-4994d01a6ac4 CLINVAR:474900 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7f23334-daa4-4865-ab6c-872dc102cea7 CA624861219 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 497df059-82d1-4733-b9dc-644e14895b4e CA624861219 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1031c903-50b1-4646-9b7d-fee34a463cce CLINVAR:386274 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed4dc650-c9b2-4d4c-8062-d47a62e965c8 CLINVAR:386274 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1629703e-7d84-4291-8934-45e8e1d1f29f CA397723028 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9dde6241-bd2f-4b74-ba58-0cfcbfc42dea CA397723028 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 496e2a11-81ba-425f-9806-9828030b274d CLINVAR:141522 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b051ee59-c2d3-49e5-bcf6-32ced63e15bb CLINVAR:141522 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 118cfb55-4d25-4b30-867b-da4df25d70b2 CLINVAR:453341 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b4cbd775-49b5-4873-b690-a0b75d66b3f8 CLINVAR:453341 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96bcb543-6d02-42f4-ae10-2981cfef9d29 CLINVAR:583716 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3572257e-2ec6-4a80-b82e-d37801b71edb CLINVAR:453461 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1973b0c4-66c0-4c8d-9caa-7d6331054d80 CLINVAR:453461 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c068d8b3-a4f2-4a0b-b6db-a50694578b57 CLINVAR:231535 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d69bcd3e-444d-462b-ab9a-6463c9638df1 CLINVAR:231535 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 245bbd2d-94f8-4de2-98b5-c47dafdc3f66 CLINVAR:3018 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 52e012a3-6c2d-473b-9858-e86a73a364d8 CLINVAR:3018 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3ee50ba-e400-445f-b34e-d6f635dca7de CLINVAR:3033 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 54ae8b1c-51ab-4eb9-913e-d5ea75260fac CLINVAR:3033 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1b55356-9de1-4732-8cd4-25387e7fb69f CLINVAR:818362 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 120508f7-82b1-4165-9762-d7855820e896 CLINVAR:818362 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b558da2-1c57-4b8a-98d4-6d0151e02718 CLINVAR:140818 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8b0ddfde-6e7f-4259-8850-8804c14ff3c4 CLINVAR:140818 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5820a105-250f-4cbc-8ecf-f3547804925f CLINVAR:407718 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 149a26b9-b96f-4d4c-a785-5ade18995bd2 CLINVAR:407718 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3282d99f-a99b-459a-82f9-18f7381de472 CLINVAR:929198 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ac3ab7ef-b6e5-447c-96e5-32e22fa96084 CLINVAR:929198 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eee986dd-31df-450f-94bd-31e658a2674c CLINVAR:220555 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 576ad8df-2611-4116-9d53-789d5f0b8495 CLINVAR:220555 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36d09b58-3d4b-4ed7-8a45-33078a77218e CLINVAR:186558 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7a8fe371-af05-424c-ae08-4158656e77b3 CLINVAR:186558 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d20a605-96e2-414a-b68e-6a2c179c06bb CLINVAR:231842 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b689eef-58d3-428e-8baf-45c3ebeeafda CLINVAR:231842 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de45cf31-b550-48cb-a33b-0335400cf06e CLINVAR:490737 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 51cae27b-9ddf-4d47-b9ea-2905f95b4e65 CLINVAR:490737 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd88c878-72ed-4331-be5b-b3b0bef77e1a CLINVAR:3023 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 64f08427-012c-4368-a9b4-0c9e950171bb CLINVAR:3023 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78fefff8-8d22-401a-9b8a-1fcda8f94a3d CLINVAR:133641 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d6fb055c-7c4e-49e6-a9fb-bf5d2443b61e CLINVAR:133641 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51981ad9-dfed-4f81-859c-63a7042ae353 CLINVAR:420799 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8d552bf0-15c4-4a90-b3cb-7ae6b79b156e CLINVAR:420799 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6307ae0a-dac8-4a2c-a739-2e6082048c18 CLINVAR:187275 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cb1b478b-1120-40ad-903e-f28cad39ccd0 CLINVAR:187275 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2556a53-2ced-409d-8697-2466a3653d99 CLINVAR:141289 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b6a8195e-c61c-4bc6-98c3-9a597d6ed5d1 CLINVAR:141289 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 588adcbb-f073-4db3-8377-219b4f1e060c CLINVAR:3029 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a5be5050-70a0-4778-957b-0f03504f1d34 CLINVAR:3029 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f233a9c-daf3-4f1e-bcdb-fa650e0aa863 CA16020825 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1da99b9e-8908-4b45-aaaf-2eb2bea5c2e4 CA16020825 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5037f5de-400d-4024-b06a-7dfafd7490fd CLINVAR:102534 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5ec84f58-2063-4cb4-9fc4-9469195c3d58 CLINVAR:102534 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cb5b521-6b33-477f-8603-856f85a26dc8 CA916084428 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ccd8749e-237b-418b-bd42-ea268f2cef05 CA916084428 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62926a18-6cdd-4193-b8aa-a3e1ecf84881 CA645372267 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b6a4c833-23ef-463a-95da-3a4b960b3c39 CA645372267 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c2414ab-ec5d-4d66-8178-5755f9429e95 CLINVAR:102820 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1ff5623d-b329-4718-b2b8-74b2f3ecbda3 CLINVAR:102820 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20ed6344-8825-47aa-9156-8c854ed97fc4 CLINVAR:102813 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc3dfbf7-3350-459c-9b0d-1683791ef2e8 CLINVAR:102813 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2767f289-876d-40d3-ba9e-f6b253e51474 CLINVAR:102822 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1577f535-b43e-4281-b85e-22f78e8e5084 CLINVAR:102822 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffc323cb-0288-4eaf-8ba3-1950163ed73a CLINVAR:102830 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c08674a-7733-4cd2-b263-a803c32c45d6 CLINVAR:102830 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c459aa56-e47a-41cd-b099-f0a2c8871164 CA16020852 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7df06c40-d31e-4207-b681-3df70ba54479 CA16020852 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed718e89-e25f-4d21-8596-bd12190d9cc3 CA16020845 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ea816c52-1e92-45db-947b-7395cf50b142 CA16020845 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c181f968-4e50-4d1c-98d2-5c37a3ec7269 CLINVAR:650581 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 38ac65f2-c1a4-42d1-8f14-b1ca9059a5a3 CLINVAR:650581 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cc3f532-8c59-4ce4-977c-4280e186f868 CLINVAR:453367 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 898c1e2a-ca0c-490e-b5a3-7c8fd1357cfc CLINVAR:453367 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c3eb204-7679-40c8-bbfe-2151c3b9d3ec CLINVAR:449521 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 08a004ba-704b-438b-a766-f0d7d8e262a8 CLINVAR:449521 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36f53780-5dc7-4101-bf5c-472026d1d9a0 CLINVAR:562372 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ef4fc1f5-e70e-487d-9c1b-779caa6d653d CLINVAR:562372 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8aabb5f-476e-4fe3-ab81-e30639bc531a CLINVAR:40153 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b9da59a6-349c-428d-8a56-d5ff48eabab7 CLINVAR:40153 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6947934-cb04-4c08-a670-fa147d780b77 CLINVAR:9650 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aa508453-8779-4929-b0d4-c32b9c18fb97 CLINVAR:9650 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 283cf6a1-2bc0-4f30-804e-0c999b3b6fdd CLINVAR:9645 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 56dffd2c-7c0e-43d1-a43f-131ae82b7065 CLINVAR:9645 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b877c53-0bb7-400c-9da9-b57a9dd457dd CLINVAR:9733 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3f9425d8-433a-4494-83a1-e16ba5b882f9 CLINVAR:9733 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac29e49b-5ae8-4daa-a41d-c1c9e4872655 CLINVAR:65519 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8590a692-d869-4450-bb0f-274d815c2941 CLINVAR:65519 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfa4cf06-e328-4497-a1a1-04132deeb00a CLINVAR:9736 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b9e3cf0-5bc7-42c0-a728-f6ad89e66cda CLINVAR:9736 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ebd9495-71fa-4d74-a50d-5c3f2362865f CLINVAR:1675057 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f8ad9bfe-8a46-4236-a41f-34c801b9a110 CLINVAR:1675057 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee5fa8d8-3ffc-46d5-858e-d966d77d1cae CLINVAR:1338407 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4d3af4b1-bc58-4492-9588-06052f3bfd19 CLINVAR:1338407 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd48ce4c-9572-4f3d-bf3d-8312462ce6fc CA386952304 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 74204f39-084d-40c8-8b2b-53004d7b7b8a CA386952304 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c66f8e3-fa24-4f89-b226-5a857bca31d8 CLINVAR:994546 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8ed3773-97d0-4865-a2f7-569d78080c37 CLINVAR:994546 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10ec921b-b5f2-4a61-b364-269e32e6ec29 CA386952326 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 67345978-6e34-45a2-bc12-c209aa157095 CA386952326 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b07b3ed-94b5-4cdd-95b1-823285da7366 CLINVAR:307455 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e0f986b-b51b-4d39-ab91-4353f1d24b57 CLINVAR:307455 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfeaa622-b5a6-4396-a653-16cb9c985094 CA386952398 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 96b9a5ea-1372-42ef-ac7c-b97ccb04e838 CA386952398 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4107fab9-ca5b-48ba-8931-b5588dcff7cb CA386952410 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2a8b0d28-fced-47fa-a745-f609c182cf26 CA386952410 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ad95f38-b4ca-4aa1-9595-dba41c4215dc CA386952411 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 14e33ac8-8f06-41fc-b4da-17550047e9ad CA386952411 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 158f0548-407b-4c91-a8a4-d52ec2501a94 CLINVAR:435422 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c923b881-b49a-4916-8fa0-2ed5d383a5b5 CLINVAR:435422 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a1d654d-0fe1-4ceb-9564-f9e90fd4fcd9 CLINVAR:12976 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a46506b1-855f-4094-8c07-21eeb161549c CLINVAR:12976 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24b0310d-bc27-4353-b4bb-eed7029083fa CLINVAR:12967 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cbac35fb-555f-4249-b249-d3ece98e6d08 CLINVAR:12967 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f9a2944-69dc-45aa-b1b2-1d812c891185 CLINVAR:133029 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 10d799fb-25b7-411d-8c70-aa0633c79e70 CLINVAR:133029 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22f03a17-5754-4a38-98a1-9b192ea90f48 CLINVAR:133106 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 316d50fb-eed3-40a1-92cd-bd12e4d87dd4 CLINVAR:133106 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 488f8ee3-c532-43ac-b6be-32e2336413ba CLINVAR:12974 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a36ea66d-5e42-4a46-95ce-67e320982a76 CLINVAR:12974 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dffce8d2-3d22-49ea-b60c-2a5428f58282 CA386952412 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f92fcfc2-5a4e-4aa9-a0ed-6704a5bd19c4 CA386952412 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f0df443-db6f-433b-9071-8ff84a91ceec CA386952415 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3d9618b2-08ff-4cab-9994-563cec30e7db CA386952415 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c2639db-6344-4912-9726-f5225b1ca898 CA386952464 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a504c94f-2e31-4f46-af92-436d99294b28 CA386952464 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cebece2-8e13-4ba8-bc8e-657ef44a9f51 CLINVAR:307456 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 241faac6-d8c8-4e72-82ad-963ac0c5cc7f CLINVAR:307456 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adc03e73-1bf1-4d11-8ffa-1f0c71d8707a CLINVAR:251552 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3fa9fe90-0dec-493f-beeb-955469f1309e CLINVAR:251552 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46f6f81f-47f6-496e-99d5-08417f04012b CLINVAR:996231 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8adc12f-abc8-4848-8472-dfcb5c1c27b4 CLINVAR:996231 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c437211c-ebbe-479c-a4a6-a80da0351131 CLINVAR:225097 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ac4b3150-46bb-4204-95cb-934e04ddb7c2 CLINVAR:225097 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a8877b6-4916-458a-b330-62aebe187429 CLINVAR:251747 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 20028036-a801-4a06-aa1a-48ded42ab069 CLINVAR:251747 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40417473-4d52-4dfd-8089-3a69a02c1c16 CLINVAR:183123 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53904a03-88cc-4ff5-9227-ac945e93cf47 CLINVAR:183123 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e70a5ce-05b5-4370-835e-bb28a34b638a CLINVAR:251996 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0e575843-5bf3-4408-ad66-35e8cc016cd9 CLINVAR:251996 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f94268c-2a35-4078-8559-9cc1cb9f4158 CLINVAR:237867 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen badafafb-9a0d-4a85-bf90-5cfd3d12a187 CLINVAR:237867 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e059f6d9-3770-45dc-ad6a-5477739b8c12 CA2573051031 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6dd0b7db-819f-45e4-a9a0-1b06e96552d2 CA2573051031 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a27eaba-6493-43b6-9514-510ff4e8c7a7 CA386952499 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ccb3ba45-1d33-4285-a617-0ef78f3c60c5 CA386952499 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1c6e26e-5d85-4198-9c8d-98898dd3c83c CA386952505 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e920bdfc-0fb6-4848-b424-dca0ebefbbd3 CA386952505 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 938d7a58-a49a-43f6-a624-93569a100dab CA386952516 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ec48bf0f-8b75-42fc-bbd8-58ac89934561 CA386952516 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5467b616-6816-468b-ab06-4ab7f707a06b CLINVAR:972749 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f65e9406-5c8e-478d-b874-58f2d4c19af5 CLINVAR:972749 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2966720b-4ac5-4611-9f08-a8e4a6dc4d77 CLINVAR:418252 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 62abf5b8-7c0f-4339-bc61-3088b38aa214 CLINVAR:418252 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4ef6703-63e0-4c8d-9589-9d2201071b74 CA2573051032 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f262d840-f571-419a-973e-1ffe16156c6b CA2573051032 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df8575f1-0250-4923-8cb2-c177c04d714d CLINVAR:134506 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8971acfb-8091-4125-b18a-9203c4d40090 CLINVAR:134506 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d918660d-2d65-4f62-b700-dd28a6127485 CA386952675 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9f6e371e-c38c-46e2-a37d-30ed09b75dec CA386952675 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a508533-1416-4eac-b5c8-3c6c22859820 CA386952705 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 279c6e13-5559-479a-b9c4-d6a66a473049 CA386952705 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e27bf89f-732a-4dbe-8de4-c792c35bbdb9 CA386952722 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d3466e42-5c45-44ec-ac8a-6726e0c65ad8 CA386952722 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d036508a-8aad-4cc9-83c8-264942462dda CA386952724 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1a5ac708-b952-43d5-8270-62bea15dea8c CA386952724 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d3a0bc7-1851-4034-ac9f-458e872e6ce1 CA386952811 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen be26377c-e5ed-42b2-bf1b-17445f06e6fc CA386952811 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14f2b0cd-dacb-4264-8ef8-98ccfbf1949d CA244520729 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen db748993-f9be-4603-aab8-ddf049c3156f CA244520729 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37de6cef-610c-473b-997f-0cf3afd0b0ed CA386953008 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7a6cc268-5443-4cd2-8523-368ab358f7e6 CA386953008 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78dbd880-b3f3-4ac0-93e3-e76abf6943f6 CLINVAR:36798 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f393bb9a-c25e-4c7b-a475-e3288795df6e CLINVAR:36798 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07fc9394-042d-4cc4-9739-63fc36c5bebb CA386953128 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b78c5331-6fec-4ee7-ba5f-7f8fdb4f34d4 CA386953128 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a9fec59-f0a9-4446-a8c4-8c10752ae1a5 CLINVAR:882461 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 44131d54-aaaa-4552-b04d-4084ca75b99a CLINVAR:882461 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6ba5518-f813-4e43-af0c-bd4490c0685f CA386953149 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48bab274-feb5-4819-9947-f554ac290521 CA386953149 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52f07acb-1c07-421b-a584-410222af7574 CLINVAR:14938 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3d9bd363-f81a-431a-9b52-43c40eb51ef2 CLINVAR:14938 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a52cc9e-df3e-4520-a81f-203ce19b1427 CA2573051034 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d07e13a1-f76d-42a0-b59d-af58164ae8e4 CA2573051034 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea79e67d-7d43-4dde-b9bb-bf2606b8bf69 CLINVAR:36809 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4049153b-4613-4319-a9bc-63c589d55896 CLINVAR:36809 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1883416-2ec2-401e-a612-40aec971b1cc CA2573051035 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 97e00897-4db0-4f11-86e6-8e5cf5051017 CA2573051035 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f1c4256-8f3b-4e96-9400-300cf0ada71c CA2573051036 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b6f40146-1bf3-4092-a8ef-ba941b67c1c5 CA2573051036 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4108663-7f22-44f6-92bc-9201c9e4bbb3 CA386953604 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d9cd31c1-207b-4120-beaf-eb27a957bf46 CA386953604 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f20b09ff-86e9-48fe-b5fc-461d2527d555 CA2573051037 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f4940ca7-d7a4-4a59-877c-48378f823313 CA2573051037 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63583e2a-2c37-435b-9007-fbbed8bb5241 CA6831684 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen acd9d9c6-9d5a-4fde-afb9-71b7d69b97b8 CA6831684 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4054e76-4b42-4653-be5a-1f118e0afa86 CA2573051038 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f51ae9ef-6a75-4284-9e29-506ba1689de1 CA2573051038 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92837d42-e43b-4495-bd2e-4f594b49aa9d CA244520882 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a40129e9-9217-47db-9529-b01495d921ff CA244520882 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfe347e1-a887-43f7-a076-245e857d8f3a CA386953772 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen de1882dd-8d58-4376-bb0d-4031b4055139 CA386953772 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95b50ce4-019a-4f65-8645-af3554a419ec CLINVAR:251581 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 97087e50-e997-4a7a-a976-93f4fa7c033c CLINVAR:251581 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 561fc2ed-2787-47f3-ad1f-5a9bdaea664b CLINVAR:3692 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 10ba1cca-6cc4-443c-9025-829fb1826c2d CLINVAR:3692 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5035d7a1-3f27-4241-bd96-d340812545d1 CLINVAR:440612 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c445afed-a541-40a9-b5ad-a6a00ea15607 CLINVAR:440612 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beb506fb-ae54-459c-9240-875a83d31c41 CLINVAR:226336 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eb894816-5723-4b5d-b83f-b70c57500a3b CLINVAR:226336 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16f6654b-8c2e-450a-a2ac-79ae564c9f83 CLINVAR:251532 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1a7dbd7e-8eb0-4fe1-85bf-8a5b994eab1c CLINVAR:251532 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cf88646-92e5-4b6a-88c7-c332ae93f88d CLINVAR:251531 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1be373a9-d5c8-4784-abe0-b9c26815e208 CLINVAR:251531 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2870b332-7f5c-4177-ae6f-c7628a13275b CLINVAR:251782 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 80f36885-ab7e-48f0-9414-d34a9469f7f7 CLINVAR:251782 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cebce6d-4015-441b-b21f-9ba6ef0db74c CLINVAR:251784 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a278fc58-4052-43fe-8dd7-5d3ab57d5b5d CLINVAR:251784 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15fbad6e-49a8-4fe5-9210-58f6f41ebcb3 CLINVAR:189296 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e3fbf719-90fd-42a9-938d-a1dd4aa1c92a CLINVAR:189296 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b22fff2-c060-4646-a07b-2b5cb2748877 CLINVAR:200920 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 29b2435f-c1d1-40a3-be0b-e2e024407296 CLINVAR:200920 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7fdd7f6-8f0e-4af7-9831-ecdfe6fca3fc CLINVAR:251505 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91dd9605-de1b-4753-a4fb-a3c7314e0b3b CLINVAR:251505 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b8d2db3-541a-4e5a-a2c2-51da5bcc1f86 CLINVAR:441198 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e609942f-ebe8-46b3-9faa-91b753b9d617 CLINVAR:441198 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9420292-ee40-4238-afaa-af7740f8197c CLINVAR:441197 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab9d8363-64aa-4a8c-9e10-cb935610d524 CLINVAR:441197 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d668b47-d26c-49a4-b880-e42b3ec02661 CLINVAR:998053 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53f8f3ec-0804-4ad8-8af1-db28ee885a70 CLINVAR:998053 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2df6fc5-7e1e-4130-9870-b30504541f66 CLINVAR:200923 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 12ced23b-0b71-47e5-8138-43cb873ba4d9 CLINVAR:200923 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa9c991c-5623-4dd6-bba5-c95809ca2ccf CLINVAR:251102 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d96875a7-40db-4b54-a155-7ccf0703cc8b CLINVAR:251102 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b61ddff1-06b1-4374-b37a-7d652e4c0372 CLINVAR:541714 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2bf42072-ac42-4b33-a8a2-95e862ded609 CLINVAR:541714 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f3f8cf0-7f32-443f-8fa9-5df7d249071f CLINVAR:932830 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen be6f3499-fc2d-43b1-b7a9-da7c48099eb5 CLINVAR:932830 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74235f07-5158-4b73-baf4-d5ac79d98769 CLINVAR:552361 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a9e70569-f683-4acd-ae17-d8adf95c8ba0 CLINVAR:552361 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32c8b8db-839e-4074-8900-81b62f849d5f CLINVAR:541718 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e6c2458a-b2f3-404d-ae58-5f054a13a8b2 CLINVAR:541718 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66b53418-17c2-485b-be9f-34cb299073cc CLINVAR:857574 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f84e9bab-f266-4dce-8e87-49df903f9e8d CLINVAR:857574 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d3a6708-0dfe-4a7b-a378-13c7c7534575 CLINVAR:550796 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9f862bc8-1a33-4d4d-8e4e-51c9260482df CLINVAR:550796 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee71042b-6fec-486c-be23-0f9a4923a922 CLINVAR:203588 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c0bf1faa-6c17-498b-90cd-82f9bdb0b404 CLINVAR:203588 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef3988f3-b9e3-4f44-a47e-7e8ccf2b748d CLINVAR:943198 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e969558-55f8-4a79-b459-b292baa50f29 CLINVAR:943198 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ed3f5a9-7c21-45c5-bc2c-23b31dc166b1 CLINVAR:932733 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3c3339bd-2c9b-447b-bada-9c4e002f9ef4 CLINVAR:932733 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 260674eb-e45e-4528-9a42-beb076a28c7d CLINVAR:569888 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3dc0ebc0-f815-478c-b421-e72e28e29d98 CLINVAR:569888 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e0b6a4c-2715-4c61-be75-5438ffd733e8 CLINVAR:556238 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec6e7d70-a359-44b5-9290-1bb509be8287 CLINVAR:556238 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 638d44ee-cdf0-415a-abf6-75efdcfaaeae CLINVAR:932734 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ff4eb8a0-4713-4d53-ad10-377c3fba0d9b CLINVAR:932734 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11839e03-c8af-4f00-9f93-5059e90cbc6f CLINVAR:189116 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2f5d3538-9735-42a1-a52a-0f73e950a313 CLINVAR:189116 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ac4db9d-c434-4c6b-a68b-ef71850b0fbc CLINVAR:474896 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ab03afce-0abd-4b8d-a3a9-f0f987bdcc16 CLINVAR:474896 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9118dd55-d17d-45ac-a0b2-6bf408dff257 CLINVAR:203594 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5f868518-7238-4245-b918-784b946cb32e CLINVAR:203594 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92f1435d-13ba-4ca3-980f-14f22d60d8f5 CLINVAR:1624 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 086f547d-9760-40dc-a8e7-3570f825ae88 CLINVAR:1624 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65235b82-19dc-4be4-a267-ee508931c840 CLINVAR:932735 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4d7425d7-52a5-42c0-9426-13b9925ea67e CLINVAR:932735 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3514ca66-6b7c-4f8f-83b4-917d0ddc92e7 CLINVAR:1074732 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 54be6f57-604e-41aa-b96d-e87db2ec53c2 CLINVAR:1074732 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb88e084-8826-4467-b150-813bb1978459 CLINVAR:951288 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 85cab890-cdeb-4b5b-8571-3bd7ea0291e4 CLINVAR:951288 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c709794f-980e-44b7-bac1-89d7dfe81cfc CA386954172 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fdb4e4e1-938a-40d9-a144-71685c99e4ff CA386954172 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 802d12ff-9923-4ce1-95ba-bb28c9094e93 CLINVAR:36816 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73f63aba-be7f-438d-82d3-15a1d053fca7 CLINVAR:36816 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e3d8264-b979-4f6a-971e-12ba3dbec7e8 CA2573051039 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0742403c-7228-4f42-abd0-dbe3b3f40c07 CA2573051039 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05639009-e249-4158-8af7-1b2c2b77b0a1 CLINVAR:36817 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 36b8e7db-c815-4ed2-acd3-8a4b327cff57 CLINVAR:36817 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1aef52f2-3e11-40da-999c-84e3bdcaadfe CA386954942 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b0eed344-1dd7-4544-a47c-f0149110b715 CA386954942 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3109cea-9ea9-4a14-89a3-8b56c71d9a90 CLINVAR:447486 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c410585e-e293-4c95-8184-827eac141991 CLINVAR:447486 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 385ad0d0-12ce-4413-9c86-4c4e62c1d516 CA913203553 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a5b5ba14-4925-4b52-9765-0ae72f1ed5e7 CA913203553 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac155353-2dba-48d6-b5f4-40b0b20e0f63 CLINVAR:36819 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d9b9dc43-383b-45c3-b5fd-0f532e6defb4 CLINVAR:36819 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4466a952-db8c-4703-97bd-f255a9532cc1 CLINVAR:307458 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fa69d9e9-6024-44b6-b642-deb430f3f28d CLINVAR:307458 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92dda101-bec9-47eb-a40a-a3c296c1dec7 CA386953852 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2fe0653c-82d8-41f3-aafc-4069952492f2 CA386953852 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 995a6edc-0d10-4e9c-8fc1-c80bda72d54e CA386953857 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3797e68f-26c2-4bef-a7a4-03bac32bdcb5 CA386953857 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 980d67e4-8557-4e8e-b6fc-5c8173c07780 CLINVAR:14942 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ea10dc5-c84c-4e85-9a76-0dbb554bb1dc CLINVAR:14942 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 274fc01e-fbff-4bf7-9d0d-81e24c7d633f CA386959120 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d5beb15b-d222-44df-8c67-c34b4309c62e CA386959120 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f622d706-31ea-4b0c-9bd9-874237619319 CLINVAR:36820 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen db89fc0a-6809-4109-be6f-60b4bdba080f CLINVAR:36820 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d85b7e5-70ab-4f8d-b1cf-f7f2ef5b044d CA386959975 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 937277f1-c323-4f49-b2d6-0f352e2890c9 CA386959975 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6a76e07-d85e-4d01-a97e-5aa8208cd157 CLINVAR:447489 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2e913d08-aa9d-4af6-b62e-b5583794a8fb CLINVAR:447489 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cad5597-3802-45f9-9f69-9b47a82c40b2 CLINVAR:36821 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 58b8eed8-2156-49e6-aeca-caed5d96e3d2 CLINVAR:36821 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8683df12-5f7b-4edf-a419-995630d56fae CA386960405 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d15cddb4-e2c7-408c-9d2b-a5b887da73af CA386960405 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05eb6ae8-7766-4c1a-8a25-c73e66b5e512 CLINVAR:447490 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 111e4ef5-b82c-4ece-b672-159fdd22dd73 CLINVAR:447490 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 547cb289-c169-4436-a543-972c05986c7f CLINVAR:1317072 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1f4a0d1e-a81b-450d-a964-41a1dda394b0 CLINVAR:1317072 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9568a7f-2104-4e96-aeca-f9af2ce22bc1 CLINVAR:377965 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2ba116da-0444-4a94-a4d6-b46742e1fa18 CLINVAR:377965 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00eb0fe5-104a-4748-b5dd-d4fda6a0f563 CLINVAR:372380 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9848a156-33d1-4149-a026-d386a13b2297 CLINVAR:372380 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bea34039-6ac8-4fb0-aa92-bad2825bd3d1 CLINVAR:449035 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec24f50b-5ea9-4f19-86e2-5430727df504 CLINVAR:449035 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cc9f1f3-7915-43dd-a78f-46b2542bc7d2 CLINVAR:36824 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f83fb2fa-fda2-4b12-8be2-93a1d8f913d4 CLINVAR:36824 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f429a958-123d-4d27-820f-ee02db2f7d4e CLINVAR:381588 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3360eeeb-181b-4758-96a0-1d5bbb3f3fc3 CLINVAR:381588 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a77899b-db3e-48ad-a502-501173aaa348 CA386964227 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 991d7ad2-90d7-4e9c-9058-d49e636e768f CA386964227 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea1b841a-ae61-4745-a207-f76cc9b9fb7f CLINVAR:1338381 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f0e2f396-ea17-43a4-afcf-0d4855b6fd7a CLINVAR:1338381 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27b249e1-fddd-4b11-8374-de57de2dfae6 CLINVAR:129235 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a7b2c7ea-b353-44aa-b1f5-c68062fe85cb CLINVAR:129235 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d51ffc17-ab64-4465-8399-fa75389217ae CLINVAR:393434 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 09f2d845-f22f-45f2-b265-f8734d2b7248 CLINVAR:393434 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8840d3b5-3469-4fde-92d8-e17d93db2ee7 CLINVAR:36825 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3c4ac65c-a24a-43d2-9319-90c62d2afb2d CLINVAR:36825 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c997c89-cac6-4cab-907d-2c5ef3855b08 CLINVAR:435428 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d29686f6-fc30-4ba7-a9aa-5c742dbe982f CLINVAR:435428 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 826f4abe-5f8c-4ef9-a502-29a9da9fce96 CLINVAR:379904 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ecaafe16-8995-4715-bf8a-103eda594a4f CLINVAR:379904 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cac02c55-2a6c-42f4-8a91-df13daaab604 CA386965177 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7d846f41-710c-42ba-ba8c-600edf6fe7f0 CA386965177 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4398ac5-d55c-426b-9118-2f98ed83e82b CLINVAR:393456 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e1ff4810-b17c-49a3-b0e0-8d2d23f802de CLINVAR:393456 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a5d32a8-4be8-4888-9045-1fe2d661e6ac CA913203569 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 81d2d898-a42a-44d6-875d-6b1c5b3ed960 CA913203569 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17f58f9d-b946-4128-89cd-522f64ade740 CLINVAR:447497 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4245e1f2-6ff9-485b-90fb-daf526d34a03 CLINVAR:447497 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4cc97b1-0046-427b-9d8a-dcec76e5977d CA386965461 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen af1d4507-08ab-4095-86a8-ac68e770fe58 CA386965461 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89c32615-e3a1-49e2-bab1-ba39c1f46316 CA915940299 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68b5596e-5d4d-46cf-80c1-82297550214a CA915940299 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 319cf758-72e3-43a2-a112-b572b6d06376 CLINVAR:452526 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 87f67857-71a9-4191-baff-71ad3d64a6f2 CLINVAR:452526 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02527ec9-e3f9-46b5-a560-40e139ebe3a2 CLINVAR:36828 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 479aa7f6-cc07-42e4-a574-6799d1164285 CLINVAR:36828 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8098b1e6-925b-48c9-b9fd-39219e1cd456 CA386965838 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3514ad17-1509-4064-9cb7-87d5981716f3 CA386965838 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f0b91b5-465a-41f0-b384-bf17ed14880e CLINVAR:838654 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 24337e28-58ee-4973-958a-b652d72cbb29 CLINVAR:838654 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85ac7f5a-6291-4646-8768-a09fc66eb8b4 CLINVAR:203575 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9265f197-58d9-41ca-89f6-b36c1829cad7 CLINVAR:203575 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4aaf4e6d-d0e0-46a7-9112-c3aae04bf8c9 CA2573051029 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1f14a48c-fa98-4c5c-9b69-9ccd0030ab31 CA386965841 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0bca379d-d630-471b-9e0b-a87cf960b218 CA386965841 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a8823c0-39b4-426b-b67a-de3f80d51a09 CA915940438 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5d774919-ec8f-43c4-a4fb-3ab1bfc8efee CA915940438 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e22bab9-e6c2-44c7-a938-9526098c32d0 CA386965901 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 13231997-da07-4f1b-aef1-951f334cb794 CA386965901 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5500a387-188f-41c3-b664-6b3d5331bba9 CLINVAR:447498 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 053674e7-88d3-4b6f-a141-2c4fbff08305 CLINVAR:447498 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afc213a9-6657-48e4-8bf3-e455b76cd7e5 CA386965984 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 203026ad-073e-457d-9749-0fb5a102bcc2 CA386965984 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74a4db96-9101-45d3-a882-52314a51cb74 CLINVAR:265436 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 934d1628-e045-4ded-925f-e82c79e05d98 CLINVAR:265436 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc28dbcf-a6bc-4b82-9645-be1fa8da7196 CLINVAR:562367 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 450a4170-1667-45f8-9eae-c4e9ee0bc965 CLINVAR:562367 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d4d65df-9519-4411-83db-4241d0d68b17 CLINVAR:379138 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e3255548-2aaa-47dc-b721-5db2836421c0 CLINVAR:379138 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75c9e8e8-b51a-4f33-87e4-d5d49f359b15 CA386966158 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d99d447e-e358-4914-b4c8-c60a24690c51 CA386966158 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6345bd5c-79c4-4b4a-9b9d-976be0c4f37c CLINVAR:36830 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 369e2608-2304-4ff9-a4fa-d0cebe9a013e CLINVAR:36830 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7c8a971-2951-40cd-bdef-fa12edf39aaa CLINVAR:1338730 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1de5ba21-a04e-479d-bffd-f4c8db40340f CLINVAR:1338730 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d47e86ef-8345-4851-9d9f-ce824e5296c9 CLINVAR:265193 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 757117de-62d1-4b84-9425-ce1b26f949b5 CLINVAR:265193 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7fe4294-8c19-40fc-aef2-5e74d4ee7bdf CLINVAR:447504 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 840bf91e-92aa-435e-b936-04691bd85f01 CLINVAR:447504 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 095a83e6-4697-4bc4-85f2-c8a41b18a37e CA916079828 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 708da89f-89ce-4d18-bdd2-8f021a454ddb CA916079828 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 017ab36e-446e-42b3-854c-1e2f46d914dc CLINVAR:1315612 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6dc3c6d4-596f-49e3-80db-0dea013c5cdb CLINVAR:1315612 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d28d800-6d30-4dac-807c-f815594b78c1 CA6831851 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd1821a5-1d4f-4164-b64f-bbe18225c41c CA6831851 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9eb847c-a50d-42c7-b4e4-9b9dab73444f CLINVAR:972753 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91613f72-414c-4311-a600-f75088b521e2 CLINVAR:972753 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69ad017d-63fc-4543-90c8-47efac4806de CLINVAR:14927 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fc50fbfc-9327-454a-841a-a3524525f683 CLINVAR:14927 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58e7d8e3-fdfa-47f5-a4a4-6c391e1ffc5a CLINVAR:447503 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6fee690b-7e1e-4053-a460-86d4d6233baf CLINVAR:447503 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c18ffc9-ccb9-42e4-8f93-894d2c0647d4 CA386966358 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0dcfc78f-f6db-4a39-9a85-f30970ac6bfa CA386966358 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad6a8c70-21c9-40d4-a2e1-4b197d6e5996 CLINVAR:449403 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 137e44bd-d71f-4d5e-8525-8c903ead5a7f CLINVAR:449403 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c1983cd-17de-4794-baa1-de7c608291d6 CLINVAR:447501 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b9b6317f-5d9b-405e-ad28-1e0dec481e8e CLINVAR:447501 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74b09aed-5971-4043-8cbe-25b36ac9e440 CLINVAR:447494 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 696fede6-1dbc-44ac-a405-7e6abb90a326 CLINVAR:447494 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3ebd2e0-a668-466c-8e13-61d82b2bc5c8 CA6831859 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 90d1b2bc-b493-492d-8139-f809917b5211 CA6831859 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49077d4a-6f99-45ac-8482-2409817fb1d2 CA916084342 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 43e921e6-decc-4d02-9fd7-6ec2579ad86a CA916084342 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c95c3ab-d8f7-467f-ba6b-10de45ac3f84 CLINVAR:102631 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8c7d9fb3-3c27-471a-9b76-92bff06d7e98 CLINVAR:102631 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f73e0e16-6d14-4877-b618-d11c69e34b0e CLINVAR:102599 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d9b2740b-15f3-431a-95c5-41732b4e67ff CLINVAR:102599 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d80c7ce-7a8d-471a-b77f-92e5dbdefa89 CLINVAR:102863 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c860a5a8-c4be-409f-82f3-5b89bf04e150 CLINVAR:102863 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b06aa894-444d-4691-a6bf-2d2fc5279f11 CLINVAR:102836 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0d4df61f-02ec-45c0-b6fa-74fc9c653ef3 CLINVAR:102836 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62256ee8-75cd-4950-b9a7-d2a35049223f CA16020858 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6af07bec-0681-418c-9f6f-6ee2b1db7b2c CA16020858 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1cafe45-eb09-422e-9a11-a8593904d5ed CLINVAR:102835 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d2a7778c-9e9a-41ee-b447-bb6259e5d529 CLINVAR:102835 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae5466dc-cdde-4f0b-a269-6a4f75f9493e CLINVAR:102651 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 813627a2-676c-4e79-b8c1-cc16b80b0e04 CLINVAR:102651 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c386ca48-f664-4ced-bea7-783728c1e082 CLINVAR:624 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 779b1fc7-fdc4-495c-9901-e302a593f9b4 CLINVAR:624 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7432ab3-1d6c-46d7-beee-739b541ae860 CA16020834 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 59d95ed0-a1de-4cec-9555-62fa2d6878f2 CA16020834 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69cd7f49-548a-43cb-9a87-5b4244e6638f CA16020917 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f63dd2f3-565d-47cb-9bb3-19622883debb CA16020917 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f944827f-087b-4b2e-8c3a-e1077f927851 CLINVAR:430837 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9fdb9d75-0aba-4d95-9c9c-d41c1492b518 CLINVAR:430837 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8d1bc26-b4c6-4eb1-80a9-f12c48b9ec06 CA386971548 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd8cffb3-57e9-49d8-8fe3-4b980ef9a75b CA386971548 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87a384d0-dae3-41d9-b61d-31207480d62c CLINVAR:134513 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 36c6b0b8-d971-4401-a851-4f48299910a7 CLINVAR:134513 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1682e744-22ba-4018-bdf4-d81ec4af8a9c CLINVAR:447484 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ceb6d261-6963-4b42-a308-731fe778f115 CLINVAR:447484 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95d20bf9-0778-41fc-91fc-e4e864e02bb9 CA386941334 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9049e046-20bc-4df9-80eb-f4dbab866c64 CA386941334 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2210bd99-ecf2-42a3-a6b1-69aee664a240 CA386941084 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2cde4b33-128a-48ff-b546-aa0f8f7eaa98 CA386941084 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdb5b9d8-a974-4e28-bb0c-2022c57ac18c CA386941079 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 859a98e3-ecd6-4e13-ac48-62a45005a92a CA386941079 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22259064-3a26-4460-b57d-049323e186be CA244513452 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 43d6715d-db5d-4116-940f-f42b19fcfc80 CA244513452 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2ff7d13-3ddb-45c8-9d86-31292095fe3f CA2573051041 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2f4b7ff2-3e62-4905-b08b-8841d5489b37 CA2573051041 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1e37038-28fa-4427-a21f-82dcbb58fae7 CA386952842 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af6c205d-d2b8-44ce-b2b3-a8d47aa4f454 CA386952842 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 432ef863-d7cc-4cf2-bae3-cdaf4593d83b CA386958679 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 836038e2-17f9-440e-bc90-7e29b69da136 CA386958679 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 831a3721-9cff-48fd-85b9-6a65a165557f CA386958695 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc6501ba-f736-469b-89ad-8591b1f997a1 CA386958695 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 301da63f-d478-4e31-9d2e-7406d70ec6a9 CLINVAR:447500 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cf5275de-88f9-45dc-952e-1f33f3f87204 CLINVAR:447500 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f27d615-a290-4efb-9136-4c862cc4626d CLINVAR:14945 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 01ea9e7a-484d-4e23-b280-8ccbfb990a8b CLINVAR:14945 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47e6df8c-d4aa-43b5-9261-dfdc26847087 CA386970422 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1022b5e7-5448-4409-a2df-856cb06bb798 CA386970422 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ff51527-2097-4ed9-8fa3-bb539c552f69 CLINVAR:252220 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen edd9626c-26ff-4fee-9287-600db93156ab CLINVAR:252220 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a558232-dddb-4acd-b7c0-d6b605c7b18e CLINVAR:252221 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cb381a3f-0f4b-4571-a3fe-75a2939af759 CLINVAR:252221 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0555dbee-08a1-4585-8534-dc3fb4eb0479 CLINVAR:36823 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 46179c6c-235d-416f-9a01-fd1c126cef27 CLINVAR:36823 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2be3670-664b-4a2f-b51f-eab613bd511b CLINVAR:134509 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c246ddca-44d2-4820-82db-e569f11c7a72 CLINVAR:134509 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f693e74-a8fd-4be9-af82-d2c4af358b00 CLINVAR:918071 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b993ebde-796a-4149-b399-e51c1dbb2570 CLINVAR:918071 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51764703-117c-4270-8854-44f78b488c19 CLINVAR:843407 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2ae48d83-1393-489a-af6d-2c360e490dc0 CLINVAR:843407 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97c61717-5710-4bf6-bf53-1dbb08ec8d6b CLINVAR:251435 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c50bd77d-c9a2-47f3-ab4e-8f0a3ceb3518 CLINVAR:251435 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc965e1b-41a0-40d3-b60d-cdf37ddc69c7 CLINVAR:226351 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7d31e6f5-a2f5-4940-b40d-145a5efa7de1 CLINVAR:226351 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c90d078-5d96-4586-b200-2693200d4bc6 CLINVAR:226352 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8ba638f0-2dc7-4a22-9c4f-986d1012f2eb CLINVAR:226352 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6efd7093-9fd9-488e-a612-78be65c6c4ed CLINVAR:250966 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba7c33d8-a99e-4648-a99f-df901632831a CLINVAR:250966 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90a1b60f-4ef4-4148-a97a-b51f2308fd4c CLINVAR:250967 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7cfa644b-bc96-42c7-b2e7-044e39071af6 CLINVAR:250967 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ded9f228-e47e-4b15-926a-14c9245dfabd CLINVAR:441174 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8a5f2cbc-bae0-4edc-8c68-3a52a46b9325 CLINVAR:441174 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1679b6e2-ad9f-4590-8700-b3b50a61423d CLINVAR:440536 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5f5fb062-2b5e-4426-b586-63b4d5565b7c CLINVAR:440536 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81605963-f844-42fc-b07d-40ca90288367 CLINVAR:250969 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7e5ca93f-c598-499e-ab64-6d02bf31491d CLINVAR:250969 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a56f6fad-95f8-482b-bac9-f937c084b90f CLINVAR:3739 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fe5013d0-9414-4b32-8a5c-5edd5c620da1 CLINVAR:3739 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 948a8af0-2bf0-4de1-a3a9-42171734c357 CA2573051050 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4acfbe8a-c87e-4eff-bb55-4525bcd7d146 CA2573051050 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6161ba8-206b-42c5-959d-c796a073d3b4 CLINVAR:14935 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9562786a-bb2e-4378-bf88-72abf5a4a804 CLINVAR:14935 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 436c12e6-1a7b-4cb6-a850-6edef5a39199 CLINVAR:920048 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b1e7874-5800-4346-ba21-52bef0f902ca CLINVAR:920048 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2a7d1c8-793a-4cb5-aa66-8efd32b17378 CLINVAR:251580 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 92992819-fb09-4081-ab78-c467786d9c9f CLINVAR:251580 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edc15054-539a-461f-922c-0db45a325e29 CLINVAR:440663 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d25aa95-995c-4a38-bfd6-664ad982dd22 CLINVAR:440663 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e69cac7-2798-4fe8-99a9-7ca8d851e780 CLINVAR:252084 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 31ad520b-e6e3-4e11-a8c0-a4001576568e CLINVAR:252084 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13a1dcbb-3b50-4a10-973f-215e0b58cc38 CLINVAR:252085 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f3d05977-94dc-4a9d-86ad-359a1e0891bb CLINVAR:252085 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce74bead-7875-43da-b88e-570b3343cd0e CLINVAR:250957 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen afe8acf7-46db-41e0-866e-20a20f34f3b4 CLINVAR:251508 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0cc789ca-105f-4b3e-bb4a-0725e54d9674 CLINVAR:251508 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d63e324f-cf33-4f32-9f6d-c95c93c00275 CLINVAR:251507 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 259d1425-6109-4e15-9c7c-411bd0de2360 CLINVAR:251507 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 562b24e6-d3e8-479d-9a9a-ff47c986478e CLINVAR:36459 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d75c530b-355d-4c05-ac7a-afd63a2d049d CLINVAR:36459 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18c5f3f9-fc76-4fa3-8755-24b372f2a2ff CLINVAR:252224 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 43238f19-b9f1-440d-b6ee-ae9872a923b4 CLINVAR:252224 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a413a26f-5a62-4d87-9e87-f89800e5f99b CLINVAR:250933 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f724d0ae-ec3a-46ae-9bca-8753fbbf3733 CLINVAR:250933 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be6e77e8-d51b-47b0-8f37-eb5f577e7fab CLINVAR:251611 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f594ef6e-10ad-45d0-9657-8578ce43ac16 CLINVAR:251611 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72ef3ca4-2cd0-4bdc-9e18-11e723fb89cc CLINVAR:226342 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f388602b-5e29-4da7-b59a-4ebf7254c43b CLINVAR:226342 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf412b62-edc9-4ce7-b338-b894b3f17017 CLINVAR:440627 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 26096f69-c8ce-41ca-9f88-6e67a5ba8de5 CLINVAR:440627 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 595e2e83-5031-42c6-a308-fea0395dfad6 CLINVAR:251693 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen df8673ca-fe89-40ed-bce7-0e5886b4d054 CLINVAR:251693 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca2a86c9-0b8f-41b1-99d8-2e6796f080c9 CA397722480 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e360b1b1-7b76-4084-ab12-a93cb401ed69 CA397722480 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d34684e-7da5-4fb5-a798-0ec42bf3b174 CLINVAR:648624 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 12205926-2bb8-4ac2-8a62-6cee0aa3cd78 CLINVAR:648624 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9da0d9b8-9243-4c85-b9be-5b3e52bfa3c5 CLINVAR:181279 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a75da179-7c23-43f3-86d0-d7c4691f300c CLINVAR:181279 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db4d00af-46e9-49c3-88e2-0e84cdc850fb CLINVAR:181390 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 514c011c-d65c-4b93-b340-bb47c70412fc CLINVAR:181390 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10e0db52-7a68-4a21-b022-64576e4b9093 CLINVAR:43095 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 64e26c44-8e31-4690-bfb7-545ec29d2152 CLINVAR:43095 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5a65227-7e7f-4b2c-bee9-e8739e271e06 CLINVAR:953854 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2c1106eb-8428-43c4-b9c6-088daaff0c7a CLINVAR:953854 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f386a103-0493-4ac5-8823-cb2a554ce549 CLINVAR:932736 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 05e9c72c-2ad0-443b-aebd-ed885258c6fb CLINVAR:932736 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61b49a5e-0e84-462c-b044-4ed7a9854f70 CLINVAR:250970 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fed69689-5727-494b-89fd-2ef3dfd052c1 CLINVAR:250970 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b050b01-7eb1-4548-9913-3e6640894470 CLINVAR:251309 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 543934b4-5158-4311-b2ca-a87459e11e31 CLINVAR:251309 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12597068-16bd-4d2b-a580-199fb01b12ea CLINVAR:3683 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f34714f6-3ba6-4dba-a65a-79e3b22f5110 CLINVAR:3683 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a602ded0-aa79-40f2-8e97-00d0290ecbda CLINVAR:3691 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bd51213e-00c4-4d94-84bb-b68bbe6013dc CLINVAR:3691 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ea4d668-58d8-497b-8168-dbb39e7c95c1 CLINVAR:226333 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 42d4cde1-2040-4c98-9695-9b2b77dc9b53 CLINVAR:226333 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46bd6220-0f1c-49df-b286-b2e81d700c3b CLINVAR:251421 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 362e6241-673a-4713-9986-eed2030cf42d CLINVAR:251421 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71dc24e1-ede3-4023-aee3-9a4dfee059f0 CLINVAR:440613 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b508d905-4a01-4bc3-bc6a-63c3d18d3ab9 CLINVAR:440613 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abe66344-15ad-4d8c-8e9d-b553a5ddeec1 CA386972260 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9a28d174-3fea-4e71-a09e-9c4b56f3e308 CA386972260 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37d978ac-485a-42cf-b67b-61ca0629812a CLINVAR:256597 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e691a115-e463-4934-a922-0e5b3ceb73fd CLINVAR:256597 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1254f0c-29b7-4ab8-86df-27e4b95841e3 CLINVAR:36829 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 565f407a-7573-4d81-baff-059926fc1157 CLINVAR:36829 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81477db7-4fd1-4516-8ce2-9bf35acbe23f CLINVAR:1338571 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 95e5cbc2-b129-4ad3-945b-dfb95ede36eb CLINVAR:1338571 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c16229b1-419c-424b-92be-8121eb79c57c CLINVAR:36832 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d791ff79-9d24-420b-ae57-c2ed0ae4e66b CLINVAR:36832 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79f7849e-b738-4be9-ae6e-6a2f60282499 CLINVAR:382774 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bfef955a-b4c2-443f-bddc-9704ccbd517e CLINVAR:382774 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e84e5263-07b9-46ec-bf72-590cfd494d41 CA386970411 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 79519c45-fbcd-4371-b6d1-d40d79be01f6 CA386970411 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d41937e9-7ceb-4785-9a02-998294d763fe CLINVAR:36803 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3abd4a9f-d26c-47dd-b5ab-260cfd8eb96c CLINVAR:36803 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0a111bc-5dc5-4b61-a6df-860974ab4c04 CLINVAR:256598 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7a4a638a-053a-4e1d-aff2-244725979bf8 CLINVAR:256598 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f66d52a8-8d7a-4b4b-af9b-ce5fecabfdf0 CA2573051033 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a5d981c-c2b3-4599-a11f-6a23d6820476 CA2573051033 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caff191a-3dcb-400e-a10e-5dfe8ad3d16a CLINVAR:307462 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 18df16fb-5d93-4e93-85d4-ff1f8e5b1b25 CLINVAR:307462 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1342cfb-7929-47f4-9bc8-4d31bc6265c7 CLINVAR:36812 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3839c4b7-1556-403f-a87f-f34d79dde909 CLINVAR:36812 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 792ba906-8bbf-4d13-af73-832a86cc950d CA386940950 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3da77929-ceb7-4feb-9e21-57ad537bba67 CA386940950 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 497ba0bf-5a41-4119-9c3e-ccc9d4483254 CA2573051044 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 88915cbc-c2c9-40df-9d5e-e44e4da4ca17 CA2573051044 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97561996-a10e-406f-a39a-7a86c36981a8 CLINVAR:438709 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7ffc444f-4483-425b-851c-f6f91918de37 CLINVAR:438709 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68fc475d-8858-4b50-8a1c-c8ae9ae0fdd7 CA2573051043 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen be8d22b2-7a6b-43b3-ab5f-f879931f6445 CA2573051043 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d168561-8b79-4e7b-8979-f8b55fc45635 CLINVAR:134507 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d06fc1de-61b8-4f69-b9f8-1aba5329427f CLINVAR:134507 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88402295-65d2-439f-ad8f-62141d55b5dd CA6832194 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ac8d81ab-0c0e-4a64-aff0-64fe0573d6de CA6832194 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a06c2877-d40a-44f3-9703-6578918bd65d CA2573051045 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 29e0054c-7d39-4fed-a0d8-495cb9058389 CA2573051045 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a500a7bf-b17b-4948-aa60-d5c473aafa4a CA2573051046 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 015d54f1-2a6f-4a7c-9cbf-6e71a36efe44 CA2573051046 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 010caab1-a22e-4856-b495-d8e13b37cb86 CLINVAR:307474 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ec986469-58ef-48b8-9267-30caa925c3ca CLINVAR:307474 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 632cc312-8d51-4cda-a92b-1e400c71b86f CLINVAR:376917 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c6e38d2b-157c-4e0c-8db6-fea889a8d610 CLINVAR:376917 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0699f9b2-0e52-4a94-b940-029a599ef53a CLINVAR:371068 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 652b5de1-dc46-431e-92aa-808e690b283f CLINVAR:371068 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc6af9fb-0d0c-4cef-8a07-fc0b83666bf7 CLINVAR:373614 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 56cf39ef-57fc-4fa6-8b5a-ed82feaa96d0 CLINVAR:373614 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0c8423f-d7a9-4fa2-a079-7770e6d1a6cc CLINVAR:929167 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a9f57d35-58c0-4c79-aad0-ccb587b6ac67 CLINVAR:929167 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7e6d855-c8e4-4266-82b0-87741281471a CLINVAR:4025 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0b95348b-5815-42a3-a034-fd2dc7dbc87d CLINVAR:4025 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdea3f04-7f9a-417c-bed9-7e0e05621ff2 CA401366477 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ea681a0e-1089-48e5-8324-5cf535eeb2d8 CA401366477 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb17c1e9-045c-4dd0-905e-4b951a8b1d91 CLINVAR:180144 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 797b8951-2db2-402a-beec-3675f799672f CLINVAR:180144 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7004e56-e408-4078-baf1-84ef1a8d683e CLINVAR:430167 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b7611fb4-10cc-4910-8201-1f6ae08ec000 CLINVAR:430167 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9340ce07-3ac7-46e5-a00c-93c9687daa5e CLINVAR:307467 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f7b498f1-5919-4d9c-9f2e-4eed858d638a CLINVAR:307467 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a730761-51bd-4e7d-af25-166f9ee183c8 CLINVAR:48256 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 09870aac-8bc1-4ab4-90e4-a59f9073ed94 CLINVAR:48256 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79e7aa2d-4454-4545-b05c-dd8ebdf5f404 CLINVAR:6137 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a52ab5a9-2643-4326-92ce-28cb8df8aaed CLINVAR:6137 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f622716e-3267-43ad-8b79-840bbdcee5e8 CLINVAR:21831 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a420b955-75ea-4a1e-8195-c4960d8e0838 CLINVAR:21831 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab3b1a01-f8a9-4606-9b61-6db1b814ae62 CLINVAR:48253 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1956261e-7070-4f58-b67d-66334b1891d7 CLINVAR:897955 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 716eebdb-5f1f-40d1-bc37-758f17a0f62a CLINVAR:897955 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11d9c5fc-2b7f-4cfe-93cd-450af370122d CLINVAR:48235 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 58957c44-ba48-4d27-9b4b-2860b210b45f CLINVAR:48235 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e01daeef-6c33-4276-98ad-0deaeac79d71 CLINVAR:500061 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7a26342d-1194-4724-87f8-792208019474 CLINVAR:500061 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91ea33af-38e8-4779-a7ef-06fc6d6dd7a1 CLINVAR:666995 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d6587827-b758-4d18-bb6a-55a61604a6b9 CLINVAR:666995 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4151c3f-91ed-45a2-b25c-43c4be4c0e7a CLINVAR:505185 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 134b16f1-3e89-4093-af73-d04dc3a470c6 CLINVAR:505185 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 662b50aa-114e-417d-8440-e613a9c21408 CLINVAR:930033 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cb2b6daf-5fe5-47e0-a4b8-315ddafc3e33 CLINVAR:930033 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ce7cc6e-192c-4633-ae74-89d1e6a66d39 CLINVAR:504630 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b7e5d074-73d6-4ddb-bd20-a60f76866cd9 CLINVAR:504630 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ec9a665-0869-422a-9a04-8752c19f21c7 CLINVAR:632271 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b2ca27b1-b050-46b5-ae4a-d46bf5d76227 CLINVAR:632271 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4add32f-a079-45fa-9038-683c1f4ea822 CLINVAR:623347 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9431bdbb-19f3-4a26-b004-edaec6c0b6a7 CLINVAR:623347 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24a814a7-2258-4002-850a-9486ff52e8b3 CLINVAR:449526 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4e92c63e-deb5-4082-a447-81f8c181160c CLINVAR:449526 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a967641c-4978-40eb-8bb7-d46abdc80d5c CLINVAR:6950 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f2762618-74ee-4144-91ea-600254b943b8 CLINVAR:6950 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4af92eb2-0e98-4dc9-8426-e25c0a9e86d7 CA401368920 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 20c496e2-edba-4798-9554-33e31aff3fce CA401368920 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b35a18c-57a6-4837-b407-62c42b270399 CA658795287 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7bdb5076-25b9-41cf-b0e6-c181de211c08 CA658795287 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f233b38a-be48-4ed2-a4d6-aa7c5437611a CLINVAR:370277 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dc113f0a-ff1b-47dd-84c7-60c578a6c2ff CLINVAR:370277 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd023520-fdfb-4a8e-bcd8-32e08b4e4d1c CA1244303 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5dc90324-572d-44f5-9639-a596a8e600e6 CA1244303 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45d6a6ab-3bb2-486c-b412-d1ebccb27283 CA343726016 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 32f78021-fe7e-4d5f-b93c-73243b689b2f CA343726016 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86013d58-fb5b-4097-b390-1bcd71118363 CLINVAR:7952 biolink:causes MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 670c1db5-eff3-4051-b28d-009b3d667bed CLINVAR:7952 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9f0daeb-db6b-4233-85c1-d01dd8847e57 CA1139532728 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 63f56369-7477-442f-84f1-b89776f95471 CA1139532728 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d7d33cd-e15a-4836-8f1e-8ff14b2d1169 CA1244053 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 956a8415-66d7-43f3-9818-2ee970e5fe59 CA1244053 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb81e283-3962-4073-a245-f2ee74e73ac4 CA1244052 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 11aac674-eb6c-46a4-9ab1-03b1487dbf7d CA1244052 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8ef6bde-62bf-4859-85b5-25905ae52bef CLINVAR:7954 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3c9096df-f390-41b0-bed8-7ba3e45d37d4 CLINVAR:7954 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50ba602e-3ec9-49e2-bea0-bbec55b4b656 CA343724072 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 75b8c6ec-5e2f-4ed0-b23b-1dc634241802 CA343724072 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c559978a-d05f-4f1d-9ce1-9101de8bc9cd CA1244050 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d6a4e99f-46bf-4b10-9b13-2e93d6da039e CA1244050 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05603618-20f7-452c-9e2e-2c43817c5ffe CLINVAR:7956 biolink:causes MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fc53357b-6c21-49de-834c-c5d16445b66c CLINVAR:7956 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75b76a68-7042-47d1-a9c3-f759fa0ce871 CA1244034 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 927804c3-10b1-4206-a993-4adb00d1bb49 CA1244034 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8893058d-2fa2-464d-950c-29c0fdce727d CLINVAR:30205 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e03a9363-b4b8-4776-91c8-b6735677ef1c CLINVAR:30205 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dc74dbe-8dc2-445b-b6f8-b3085d00f6d7 CLINVAR:7950 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d8b110e-81c8-41d7-84a8-779efca1ab38 CLINVAR:7950 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a85b5d1-ff23-4f53-8e5f-4ae6e3764508 CLINVAR:7951 biolink:causes MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fb1ca7dd-489e-4b7c-9574-441b02736391 CLINVAR:7951 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db7574ab-0fc6-46e0-b689-ca933c801048 CA343723150 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 896d0660-b641-40f1-b8d5-fe6a4f6f5494 CA343723150 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 048e5f7a-a245-45a4-a2f8-78b430ce30b0 CA1244022 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4eb4df8d-5633-420b-9fd1-395e29e2ad2e CA1244022 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99bddb4f-0fc5-4a40-9bb3-7fc581c523d4 CA16616748 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 489a1e17-a0f4-4636-a089-0d56df8b96fc CA16616748 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edfd056c-7236-4413-a81f-9fc8f767dc1f CA343723135 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c982ff15-0a4c-4b9e-86c6-d624fc337381 CA343723135 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59eea3f2-5403-40db-ac16-a29e0bb6894c CA343723138 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d7ea91c-ec97-4bb9-83d1-b02c9f2fda4e CA343723138 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 186f225a-fd60-44e2-9cb0-b739c95d9796 CA343722912 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 259787ef-53ea-414f-913b-9693b5dc0a17 CA343722912 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3522a8d6-b32e-4e88-a8da-76e1493f1e10 CA343722844 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f4e4791e-902e-4518-8841-7030107e5ee5 CA343722844 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf87472b-5174-42d3-9854-e2d854e2152a CA343722837 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 400f358c-0075-4515-8610-2194abb18e30 CA343722837 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfbacc14-5e95-47c5-a3ca-2ef630b79917 CA343722794 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 414d7a42-cd21-4cdd-a36e-7c04f023a6b7 CA343722794 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d17fe682-7289-4a04-8d58-bfaa6bcba74a CLINVAR:917405 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aef675cb-d53e-41d5-bfca-5153d551b858 CLINVAR:917405 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e7a47b6-d6e2-4381-a491-e0513665c82b CLINVAR:871739 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f1ca1e2c-ae69-46bf-aacc-f928583baa09 CLINVAR:871739 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 018f561e-f2f2-4429-8131-f9a2de307231 CA386971876 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e4c7431e-12f7-442f-8ff0-fbd8c9ba6b0f CA386971876 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79143731-67b2-4b6d-bf2d-d722afa0b57f CLINVAR:420102 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dd607f6d-0ac6-404d-a4f6-ccaa5a48d503 CLINVAR:420102 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a5886f4-bafc-49c3-aaf4-328b309faee8 CLINVAR:419722 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0881761e-c617-498f-9762-8f486f5d9d7f CLINVAR:419722 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ae368be-e914-4dc5-85f0-d8c4dd118348 CA913184733 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eb0b5f29-e1d8-4d6e-a6e4-b5b9a780abc8 CA913184733 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a259d515-f1ea-4ea4-8701-bc8eaf67e0cd CLINVAR:1072906 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 80376d9e-9570-48a6-bdc6-694a8de69efb CLINVAR:1072906 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e5d6f46-b56f-4177-9653-5e5ae9022c3b CLINVAR:371305 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6a67f5ed-0ae7-4bdf-aa0b-e45bca764512 CLINVAR:371305 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b8be02d-4cd3-4625-8690-afa23b939ff8 CLINVAR:403712 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 986c89fe-db90-4f6b-9ae9-8d9c0e2ef7a9 CLINVAR:403712 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fdf8819-c488-413e-b0af-9b304ced492b CA658795264 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 94c7f3f0-d539-4568-a0a1-f4947f553cf9 CA658795264 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffac9b1c-7f65-4bad-9647-6bd4fd1d444b CLINVAR:934787 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 68fef93e-f8c5-4b5e-9acb-bf169063228b CLINVAR:934787 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 942d679d-ca4e-4165-9ac5-23e88087b806 CLINVAR:102819 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b5074cbc-c264-4ab2-96b4-50a85f5320df CLINVAR:102819 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 069c9df8-522a-4f09-ada3-3a04650c3e13 CLINVAR:280984 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2d33a5b3-4fb9-4349-b67a-68814d5f222e CLINVAR:280984 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c06b71e2-b9ae-4cc2-b2ae-43e36839bb3b CA386954977 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 588f808b-92a2-4775-a60e-2b38c4770279 CA386954977 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea5a4c31-f914-4295-8d4e-dbd02a748588 CLINVAR:1338520 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen adff9cb8-c2db-4edb-8b58-75f0890f81b9 CLINVAR:1338520 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 894409d2-dd05-4b22-8283-2dccabd20b02 CA386954965 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 10fdec21-362b-4d7d-b34f-74bc1594064e CA386954965 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4a6b3ba-bda9-4b55-952e-8ff3e6d104c5 CLINVAR:447491 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d618be66-6921-4bf5-aba4-414a30ae45ab CLINVAR:447491 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1865535e-548d-4498-a8df-ee0a6c986964 CLINVAR:447496 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6912b6bd-a1a9-4b27-81ac-ec762c02bd2e CLINVAR:447496 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 253b5e2d-fff4-46c2-91ba-50a77cbe490c CLINVAR:102529 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ce1bc389-0d15-44bd-ba1f-fcce2d51cba5 CLINVAR:102529 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ded32aa6-3ece-43a6-b263-cdc99e134e27 CA16020900 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d0a6506a-21f1-4c16-82eb-150468d0a456 CA16020900 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7eba76fa-08ae-4e95-b264-a1c1cde33b1a CLINVAR:102906 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a2286803-0227-431d-bb8b-1a69d276120f CLINVAR:102906 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96641466-7b6f-4f73-b6dd-00c00ffb5b27 CLINVAR:102465 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 228ce457-d0af-4dee-8b56-acff5220133b CLINVAR:102465 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b019306-3396-4cdd-bac5-8c24c6d3f827 CLINVAR:102470 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c40dea2a-b0c5-4ced-8312-119a9619af65 CLINVAR:102470 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abe6e881-d7b5-4d99-a385-a491842701bb CA915940312 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 48449949-6b32-4d1d-b25f-842f20e34b38 CA915940312 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9345c91c-2659-4abf-b756-268462f6ec59 CA16020935 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b96a2230-a4f6-4bb5-b28a-501a1cb13642 CA16020935 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4eaf06c-494f-4381-a0da-3b25f11fbf52 CA399803733 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a5e8b848-13b3-4c66-8f7e-6e037866a9e4 CA399803733 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b68d8f49-5caf-47a4-835d-16d3d76f8b76 CA399792054 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0647da4b-f0de-4f30-abc6-1a8f32dfbcd3 CA399792054 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c363834-9857-446b-a2ad-d7b40e6144fd CA16020923 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 90a58205-c38f-4a9a-9f47-5798ab31f7aa CA16020923 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65ca11e5-b0c3-4af8-b832-c26fc57c3725 CLINVAR:102762 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1c0d93b6-18f7-496e-920a-9c2e7a0c1cd8 CLINVAR:102762 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91835e01-f7d8-4b00-8b03-ba2b1890bd60 CA399806022 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5dbd9d6e-1ede-4e3e-8d47-26c67a705c16 CA399806022 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f95838a9-44ab-402d-afd3-036ca2a6cdd6 CA16020898 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen da0ade3b-4c1b-4dfd-942f-9f7ab32fb47a CA16020898 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8791cc79-a1ca-420a-8be5-ce6bd8814fa6 CA915940332 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e23361a8-0ad2-41b2-9d19-5d232c2488dd CA915940332 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 399a6a4c-6d83-4f6e-9f5d-9885976496e6 CA399794330 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 817cb56a-1719-4d99-b16e-907d09eb468d CA399794330 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2215c014-8d0c-4854-982c-07bf17b856e3 CA400029054 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 95a35c6d-39a4-4549-90bf-c81961a14955 CA400029054 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfb6c00a-c061-46e9-8971-c67b6b63ca1e CA915940323 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0d870646-3b3c-482b-9d67-53e5e92e952b CA915940323 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29ffddc0-b0aa-49a3-838e-83fa42fa6087 CA915940530 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f72a764-98c8-4f35-98a5-3c2d060499a6 CA915940530 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63a2a07e-9820-4053-8988-a6ae482f44c0 CA915940333 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71f04a3c-4495-4204-93dd-4ab14ae11e3d CA915940333 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4039b6f-dbed-4ca4-9464-19dcc2ca768e CA915940701 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2a8c8ef3-8266-499b-9190-3b7b8ac840e5 CA915940701 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba17c73a-71ed-4161-96fd-6c61a135bd8a CA399795907 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cef02053-bcda-47f5-b19d-418f4024b772 CA399795907 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dedb6a5-1609-4862-8dd1-37711e7a7af6 CA400025722 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 75f7d58c-0d97-4e42-800a-f17181560714 CA400025722 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7371db0b-29a2-4be6-aa7a-01c4ea74c189 CA626684863 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6f710339-7310-4fb5-ad9d-46fd1983a326 CA626684863 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aed60a2d-f114-406f-8fcb-84f8b4afd87d CA400032596 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bf52abb5-f48e-4e1c-80fb-175cafeb19c7 CA400032596 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2112e5d8-d899-4c81-9cdc-63a4421f9ea5 CA915940324 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b3bb1201-f1cd-4a34-9789-2f30ee52a841 CA915940324 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c51ee40f-052d-47f5-ac3b-d5d57eaf1ddc CA399804780 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 05c2ff04-a1d4-4dfe-8292-9a92c6be152d CA399804780 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2721fb9-6a30-41bc-95fd-c01620a3587c CA915940690 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 01f9f709-4d43-4e5f-9175-52779174d354 CA915940690 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 785d1ff7-b9b2-4632-9562-21745df3e745 CLINVAR:1691465 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d751aa1-a6ce-4e45-8c01-f446b369a506 CLINVAR:1691465 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 495602fc-88e3-47ba-a71b-7ef8d5044678 CA915940689 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2872c9c1-6864-4886-8d39-5944e093cf49 CA915940689 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9552e58b-9a12-4bdb-85c7-1b1061c7de7e CA915940686 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8c56f34d-e61c-41b1-9047-b59558b5d540 CA915940686 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9b2cca9-5b36-41b4-a4fd-4b0fb63c5f61 CA915940685 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9548416e-8a4d-4fc8-b2ba-ad76fff2e356 CA915940685 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b25ac21c-dcc2-4820-a46c-0e67ee16c827 CA400032481 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cf90ef68-6181-4f83-bef8-62687b59bd50 CA400032481 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b058065-9bad-4cef-bfe2-3f6348c6f928 CA500261104 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 256f45ea-d040-47bf-ab5b-786204b681cd CA500261104 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08bad645-3ef4-41a0-a517-7e0e29505757 CLINVAR:627290 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ceeb9c0d-3833-4d3f-a0b4-a232c2d8da93 CLINVAR:627290 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5dafef7-df60-4c10-8187-3e88f928ccb0 CA400028389 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa5d75de-3eb8-4f32-901b-45cd602b8bd0 CA400028389 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d21747cb-1ae0-4303-b591-09479c93ee50 CLINVAR:812734 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f6440597-3c24-40ce-b0a1-dd7c9ba3c3a0 CLINVAR:812734 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af071bbc-fc67-4f2d-a121-32afb1add948 CA915940687 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4ed0d05e-1526-47f5-82fc-ffc111123008 CA915940687 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d01d033c-b5e1-4228-86c7-d8e23e810cb4 CA400034691 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 978dc0fe-67ee-4897-83f6-66c3de2a65e2 CA400034691 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdb1315d-cc27-48a3-b845-9083ff54d84f CLINVAR:850885 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a19b4e4f-da2e-468a-8823-a81e33bd3006 CLINVAR:850885 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c331f2e-cc90-44d8-b9de-8683b33c8f23 CA400030171 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2556e1b6-8e8c-489c-baa4-73da88b5ef87 CA400030171 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 471fd3a8-9092-4d06-affb-a156f6820d7e CA399799004 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen feb1e2c7-5302-4092-95f9-fc6c330a2caa CA399799004 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4883041-6125-45ca-8377-421127f63cbf CA500624244 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ddf6633f-057d-438f-8395-93972e36997a CA500624244 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14975fe0-5359-4423-9149-8ca5940ac687 CLINVAR:626980 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6f32054f-969d-441d-81aa-30bc4a32a03c CLINVAR:626980 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4afacc7-5351-40d3-bc88-efc9281176d9 CA915940605 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 37d6e3c2-c4ca-463c-8dc8-227e84f8a14e CA915940605 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe90c1c2-4d6d-4633-a2f9-16c69fb4250e CLINVAR:1691480 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 08341b31-f426-4191-ab6f-b95c49075ce9 CLINVAR:1691480 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 926cf385-529d-4c80-b442-bfde455d1f30 CLINVAR:430539 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e7abc30c-27b4-4fca-97ba-a0e232339105 CLINVAR:430539 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cc1a562-ae27-4e46-b093-1743633f57b7 CA8603528 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 19a1ae4d-b523-4f39-aac2-7fa4226da6a7 CA8603528 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3de60eda-c65e-4dcc-87b5-d5d1d40f2821 CA626224378 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e801f594-5236-4fc0-9cd5-8b31b71b1b7e CA626224378 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54623b30-73f1-4cec-a7aa-448e78352b71 CA915940808 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 869ce9ea-4df5-401b-b37d-afbbf34fe98e CA915940808 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b98a3ba7-f657-42ff-abf5-50532b0c0abc CLINVAR:1691482 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fa4da742-f526-4f9d-ba01-1263cd8cbe93 CLINVAR:1691482 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9fd9b44-f619-4042-a749-0d4636e2f86b CA400021843 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 65f88627-20ff-4bb8-9478-b7526e23e496 CA400021843 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 185a483d-f0f0-48ff-9ec7-e51eeaa66448 CLINVAR:102737 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 644ffb14-4e24-400a-be25-a49d7cbbc79e CLINVAR:102737 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 439ddf19-677c-4465-b096-2e5d87763177 CA2573051040 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0ee26740-c5a3-436e-91c9-d116bbfb2b90 CA2573051040 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 965da54d-23de-42a0-93e8-d926352727f3 CA2573130154 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b3b18e81-67df-450b-b710-f3e90ffdb957 CA2573130154 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc41f766-4e54-4b46-b606-9886d8fb415b CLINVAR:1013621 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9e9d7908-9169-45a8-90c9-b01d5885d809 CLINVAR:1013621 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 644ea145-efce-4e5c-b2fb-bdb8b0653713 CLINVAR:988835 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 77ac7c79-2dcc-4b15-b4d3-c2f41417c16c CLINVAR:988835 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a33b2967-80d3-4b41-844e-68c21d79e664 CLINVAR:897095 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5db90b16-7e85-4b16-92dd-e283e8a81c6e CLINVAR:897095 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd852141-d3e8-4c66-b14c-e2a37293b104 CLINVAR:812739 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b751019b-dba0-4d62-b52a-ea017201eb35 CLINVAR:812739 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9c16700-65d3-41e5-8738-fe7e09788411 CA386959501 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e0051117-fa22-427c-b91e-2eca2354390f CA386959501 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6279d19-9032-4c4f-926b-12ba0293a066 CA386959510 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c643572-8d2a-45b0-99d0-613b4ac566f3 CA386959510 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 039252d5-f74b-4aac-a60f-ef578c40319b CA2573051300 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 003f5ca4-e3d0-4a00-9313-bbc6a235db54 CA2573051300 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3779ab69-6fd9-420c-bf1c-bd6407d24315 CLINVAR:143485 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 71afaef9-f0ea-494b-8029-c83e14510ebc CLINVAR:143485 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42d2f09a-5d00-4485-9dcc-9060457360bc CLINVAR:143345 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 845dd1bc-7e97-4cec-866e-9007409ba355 CLINVAR:143345 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57eb06f2-8bb5-4b7e-8a31-9c1f2a70cb04 CLINVAR:11835 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f185f1c9-6686-41fa-93f3-6205881903aa CLINVAR:11835 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4c460c0-4e63-4593-99e5-3d602ac38bd7 CLINVAR:11809 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 07b1d333-f6c1-4687-8650-66ce90a41720 CLINVAR:11809 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d6cb6b0-9013-4b79-a1c9-887fee49d9d5 CLINVAR:156657 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 02f5700a-538d-4351-9778-db2c98f3bea2 CLINVAR:156657 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b74a4e7-2d08-484e-8cd5-580e7fdc50ec CA915940209 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2e99650d-c1f9-44d6-94ff-4c3ef82e7c20 CA915940209 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 565d61a6-5969-45f6-a9c5-708cd899c4e6 CLINVAR:102537 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5e0cd280-9f93-4510-886b-47bf379decf9 CLINVAR:102537 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed0cb788-7e14-4117-8fdc-2b82c9b8df46 CA16020907 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b4495c92-a6a6-4e99-bdb3-559afcdbbf17 CA16020907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 591a2239-6004-4e81-b71d-5bbeb4930713 CLINVAR:102920 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 882b7111-4cfa-40f1-8be8-f18c20b25582 CLINVAR:102920 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c6314dd-731c-465b-ab28-5a4701e52ecc CA16020796 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1ec1d209-a007-4f43-81ae-89091fc283c3 CA16020796 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a2028e6-2fb3-49c2-910e-633fa5b16440 CA16020744 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ed5b6d4e-ac1e-4e30-9731-25c121a7023d CA16020744 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3deb0404-d362-482a-85d6-0b5e9885dc85 CLINVAR:371373 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5699d110-67c7-4a25-b2a6-b328eb9f487f CLINVAR:371373 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 539116f5-540e-4ceb-bf7f-ef47fc9cfd4d CA16021007 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 11d30646-0c39-45af-87bb-f9341e27bf92 CA16021007 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c76ddf0-7080-409f-be1a-eabe32f4f6e6 CLINVAR:102615 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 628c787d-73a7-41d8-84f8-a5152582db68 CLINVAR:102615 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03a8e6c2-8359-4022-b683-4b54c797f908 CLINVAR:102622 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 258bb5b4-e18e-43ec-96ba-6d3e3b4867bc CLINVAR:102622 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d334fc6f-3a24-4dfe-9b37-7ee7e5890ad2 CA386965978 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 476ad45c-b307-43d3-8f0c-6046056352e9 CA386965978 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 545187a7-5a85-4b9d-a425-d89acf15eaef CA386971639 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dfa9f9e4-680e-47e4-99f8-98bfdaefc9a8 CA386971639 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2cae384-4536-4821-a1cf-37ab9eab5295 CLINVAR:189082 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 747e9174-3848-446d-b87d-7881ed5b15df CLINVAR:189082 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3653628f-6eea-46d0-8e8a-c4f0740faabf CA401363493 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f002a3b7-ec4e-4a7b-8710-0acedf35a880 CA401363493 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fd1488e-1d63-4e56-8021-abeddf5edb57 CLINVAR:556117 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e3c7bafb-7a78-48b8-8fe4-5d506502d0e1 CLINVAR:556117 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e80361e-6e90-4b98-8528-982cb3280acf CA401325305 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ee45d02c-7374-4fdb-8453-0fce127e1127 CA401325305 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47158e59-21ac-442d-ab99-28e144578285 CLINVAR:988811 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dbfaf1e2-0c28-4e21-8f3b-d2693f15082e CLINVAR:988811 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc555324-e642-40e7-a771-46e60fec1006 CA10014591 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 93c812cb-67b1-4f1c-ba12-0a12f7cf9187 CA10014591 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e07263e2-5b27-49c2-baaf-6f673c4c6e0d CLINVAR:9647 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ecec8839-b036-41a6-bbc7-3fdd9b751f93 CLINVAR:9647 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8033bd6-2f66-42a9-b2c5-c445bf805528 CLINVAR:9644 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 124761ff-e743-4086-ba90-602985dc7a50 CLINVAR:9644 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c08399a3-0271-49dc-9cda-86c798e28c4e CLINVAR:425040 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ca6dc4e2-1e5a-42d0-bf85-d4952c9af6ee CLINVAR:425040 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 627d4790-c0cb-4cfc-8aeb-c2702f984375 CLINVAR:207248 biolink:causes MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6449f074-560e-4242-bd3c-b1d1ce170b7a CLINVAR:207248 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8012700-bbed-4d77-8f2f-440b2e65b226 CLINVAR:236302 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1839cc2e-8e12-48f8-a10b-47194cf2fce9 CLINVAR:236302 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb51ac5b-62fc-4f5a-89cb-c650db932e55 CLINVAR:167092 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5d5bb489-4292-4c19-bba7-381b3a6d96e9 CLINVAR:167092 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 693df4a9-1f74-41d5-9c30-4b570a8c1f35 CLINVAR:160079 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 72c7c368-b1e9-477d-8fca-f06c48c55930 CLINVAR:160079 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3941cf1-a41a-429d-95d3-8e892b24776f CLINVAR:9646 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b459a43c-b0fd-4e56-8d0b-508b1397f6e4 CLINVAR:65921 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b94502cc-ccbb-4099-b042-b0f1a9c68b17 CLINVAR:65921 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7c5dc59-b09e-4ca6-ac00-6295c94ad299 CA414817724 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c7662db2-170c-4668-b7c9-7df12de97d24 CLINVAR:217366 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 94356693-b7b2-4ae7-a5dc-b5dc20b5f2d8 CLINVAR:217366 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30c36910-19d8-4184-b34b-1cd35dd7b5e7 CLINVAR:217365 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1063cdf2-98b4-448d-a92c-2b969f842577 CLINVAR:217365 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e12ee5d6-4872-4f83-bc2c-771477b926d2 CLINVAR:160214 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ac84b90a-1f95-49dd-9d33-9e84ff5d8a40 CLINVAR:160214 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bba0ad3b-2afa-42ad-94e1-3c552f3dc6b0 CLINVAR:156677 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5ffb08be-888f-4059-8a45-d60e2639d09d CLINVAR:156677 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cf51971-5ede-4c02-8c92-bb52fca9fbd4 CLINVAR:156120 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1ce3a142-f300-41f1-b1d3-4d821c040644 CLINVAR:156120 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea0aea64-a5ce-4de5-a7be-ce824a1835cf CA414817725 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6a87b80c-6c38-47d6-bf4e-df70c5eade56 CLINVAR:143738 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e38528d7-ec46-48e2-be6c-74ee41a38ba4 CLINVAR:143738 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a99fb86-6599-4988-a1ae-667abcd66f44 CLINVAR:156124 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd3c0779-9e1a-424c-8213-c84369955f26 CLINVAR:156124 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4da804f-8c0c-4c80-b972-0ababaff4ef4 CLINVAR:191364 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cd65cde2-f2c3-40df-a82c-5b183e8a40d6 CLINVAR:191364 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecbe2551-e93e-417b-afe4-d5ebe9d89df5 CLINVAR:1066009 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f693d275-8533-4372-91d9-992b3ab29fcc CLINVAR:1066009 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 897a13d2-c7fc-4917-a931-9db1d5d34d8c CLINVAR:155881 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5a12d90a-0e07-4feb-9542-a383b8260b17 CLINVAR:155881 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8ad7fed-f332-420c-a911-6802a4eb3203 CLINVAR:9698 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ef44f159-fbb8-46e4-a499-031a947abac3 CLINVAR:9698 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 226001c1-8959-4666-9b8c-640626d7598d CLINVAR:9691 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d89a36dd-2009-4b18-9774-1da9fc768532 CLINVAR:9691 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a89a0b78-bd6e-434e-933f-675e56c40e2f CLINVAR:65515 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 97f74d17-4d78-4be5-81ba-2ad17963a566 CLINVAR:65515 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84f1044b-2a56-4ddb-92d1-dfd896a70ba4 CLINVAR:9732 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d19d20ce-76f9-43e0-b40c-843c425d697c CLINVAR:9732 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a687239b-7077-44b1-b474-f5d576b00c44 CLINVAR:155889 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 53b17c51-194f-41b1-adad-28e18b2d6fd5 CLINVAR:155889 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5270bbc9-e9eb-45cb-8aef-0c85d97c2103 CLINVAR:9693 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f50adf2d-07a3-416e-8168-5132d2aa897a CLINVAR:9693 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9a0d12f-a17c-4eca-8430-f985062cd540 CLINVAR:9711 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 72400b72-f9c8-4334-aac1-c1f889439437 CLINVAR:9711 biolink:is_sequence_variant_of HGNC:7459 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2755e3cd-37f0-478c-9976-802f195d2e1c CLINVAR:9685 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 79f3228a-5901-49e7-a0f5-c96d90d76a46 CLINVAR:9685 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d2fd228-b482-436f-8621-6e1b07f92cb2 CLINVAR:9692 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4dc34d42-5e52-47cc-bfd4-cbdf940eea2f CLINVAR:9692 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83977d81-ea6b-4192-a179-c3bc7e2216a2 CLINVAR:9548 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d5f99f13-34ea-49a3-ab7b-d5e1570cb879 CLINVAR:9548 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f51dc577-96d4-4f2f-90c4-459d6473ead7 CLINVAR:9576 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a69aa913-124f-467e-be76-3833c1791abd CLINVAR:9576 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cea3f149-96dd-4c58-a56c-086084c99942 CLINVAR:9731 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 76426c05-9b67-42ee-9c78-af4cbd06ff42 CLINVAR:9731 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 466471bc-2401-4d4e-bc98-7dfcf6dc6709 CLINVAR:9703 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 036aea27-69b0-4e2a-867c-d3cd32d0f0b9 CLINVAR:9703 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16610e68-98cb-4d68-8bf0-3c0e29ca19b1 CLINVAR:690280 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 58cdb537-65dc-4885-ba34-4e9eab9dbfb0 CLINVAR:690280 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea548747-516b-416f-a6c3-eeca4d622374 CLINVAR:9708 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ed86b0f5-4b3d-4b5d-8e8b-b37832ca27ae CLINVAR:9708 biolink:is_sequence_variant_of HGNC:7459 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5b4ae54-a40b-48d9-a229-cdf2c24e4952 CLINVAR:9640 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1b3a3a81-3719-437e-aaeb-6df3c3511b01 CLINVAR:988857 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c4081e7b-7f76-4770-b013-71f3cd5c817c CLINVAR:988857 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ad23732-0009-4ade-a2b4-642d258fe10e CLINVAR:226334 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 11736d1a-562a-409d-a9e7-49e7964250a4 CLINVAR:226334 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e414666-da16-4277-80db-de332ea90045 CLINVAR:251456 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8af207b3-0be0-458a-8b8c-ec0f00ef8eff CLINVAR:251456 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37f4996b-ec60-4c74-a5fa-efc55250d6df CLINVAR:251457 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3b0f1be8-ad55-423c-9f2c-a5e38b2c5e81 CLINVAR:251457 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b613a54-5a0c-4696-b3b6-82f3af511ae7 CLINVAR:251458 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6ae909cc-0e6e-493d-aa83-5baa41cac259 CLINVAR:251458 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bcc1246-749d-40d9-bf77-747cb813627b CLINVAR:251488 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d9bc4ae8-792f-4fb5-81a7-392ec901bc98 CLINVAR:251488 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d9d55ea-d511-42a4-b308-a2add3a57903 CLINVAR:183101 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71ccf76c-8a3a-40c9-8e3c-b3a1bf1bdd29 CLINVAR:183101 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54aee103-56ed-44af-b087-927d43a8b760 CLINVAR:251903 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa620f5b-504b-4465-aed2-5a94b8b29736 CLINVAR:251903 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ef5f452-2412-4492-8f72-25b303a51de9 CLINVAR:496019 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cb9f3f85-c66f-482d-b258-1c61da5a5ca2 CLINVAR:496019 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5284bc4-38ae-4625-b67a-134174384da6 CLINVAR:251904 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d987278c-c413-45b3-b315-9e800f352255 CLINVAR:251904 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa9f1eff-f6ad-461a-86f9-db11ae3acc9a CLINVAR:431531 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d42d3cf2-92b3-44e2-a9af-90f6028eecfb CLINVAR:431531 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21c3fb01-e2ed-4fd1-8e05-29c09185dc60 CLINVAR:3686 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3e9a8df6-6922-4f84-a3e0-6e80208c703b CLINVAR:3686 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8756d8e1-6802-4b1f-a55c-3ce05b72daf9 CLINVAR:226329 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a9a0fc1a-3319-45f5-b6bb-6e0f4cf26c72 CLINVAR:226329 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2234fb15-1d4c-4fa3-ba3b-e519548e9a44 CLINVAR:251356 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac5c7bc9-5b3b-4743-b09b-d225f8c6e48e CLINVAR:251356 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44f47de7-c513-4537-891b-de596c6adefe CLINVAR:183092 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 36a6b77a-b1ee-4567-a022-31e7e03a0edb CLINVAR:183092 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49522115-fea1-4819-a385-3e7b6dd4a693 CLINVAR:161286 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 94fb83a9-3a52-474d-89d7-66c7ee7127a7 CLINVAR:161286 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5594f7ad-a081-43b2-a357-5faab50bfb63 CLINVAR:586794 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 01a98e8b-3e07-4dde-b4e2-48d49e1170ed CLINVAR:586794 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4bc1bd7-8662-4267-89a6-2bd596f041c6 CA386959579 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fe57c4d8-611f-449b-a47c-1e24a322b268 CA386959579 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 758d12fc-e915-40a6-b5a0-4f1d271a6307 CA2497030023 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7b1e8883-7c79-403a-80af-0495b9b0d6ac CA2497030023 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e7ef5f7-dbb3-480f-b7b1-c838c3ffe78d CLINVAR:1315998 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b7675068-1edb-440d-a95a-1e3ad66cc11f CLINVAR:1315998 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d695d337-b57a-495a-a3d6-6b2d2c9b2e45 CA2573051042 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bf2b5b59-cdfb-4e83-8c94-e5881766dd04 CA2573051042 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33a44400-be5a-4bb8-8843-ff71b194c247 CLINVAR:14931 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a2ebdfb1-efd5-4d4f-8f6e-ec4669eda7c1 CLINVAR:14931 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a84603ea-3cfc-417a-83a4-7cec7eb6975b CLINVAR:627101 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 849de813-14f3-4410-af74-e0763b95a490 CLINVAR:627101 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d511530a-ff78-4f2c-a165-60a5a196f754 CLINVAR:258182 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 98c85b7c-8670-4ec9-b632-c17e0ae7987b CLINVAR:258182 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3a0a223-8b15-43ab-ac04-3a73ee95a002 CLINVAR:1130934 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4a93f02d-0c49-4a34-9916-3fbf0f642faf CLINVAR:1130934 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 921126ed-0740-4147-a000-0fe5df397fbf CLINVAR:561235 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bc50e5d0-c536-4fe8-b76e-bb3dc606506e CLINVAR:561235 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef8b85d7-7f1d-4d2c-8d7e-888b9b8b6b74 CLINVAR:1194557 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 82de3b2a-2b39-448a-9a59-1fa73652224c CLINVAR:1194557 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1626a49d-22f8-4441-a16d-d83ab1b66d20 CLINVAR:755769 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a441c02-3ad9-413e-ae96-8b70fabeeaf8 CLINVAR:755769 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91f812cb-f212-445d-823a-21005f7f244f CLINVAR:579565 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 31859264-5931-4080-94a5-56c6f07d0bdd CLINVAR:579565 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76c865c0-61f0-4b04-b625-f8d0d33998b0 CLINVAR:1488717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c11bd5f8-4cfe-415f-908c-c7ffc6e566d1 CLINVAR:1488717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc170522-99e9-4d88-b87e-9979371b46e3 CLINVAR:1073521 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 633e0eb5-afec-488a-8db8-82f97eb8ad45 CLINVAR:1073521 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fd36eb3-bdb3-4575-b6c4-c577aacdee4b CLINVAR:943551 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 051eece6-047f-4406-aeaf-eba26b3f3193 CLINVAR:943551 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa65f51c-7fa8-429d-ac0a-e24eadd6eeeb CLINVAR:561225 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a2f03a15-289f-4ec4-b9ca-c320eff288f6 CLINVAR:561225 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b20d7e5-deb0-4758-ab73-d6d5bf032b57 CLINVAR:1459069 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e631ee03-b123-427b-803d-c0872b4d4f3f CLINVAR:1459069 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40075633-bf1b-4067-bf30-5a05ff6e46c4 CLINVAR:666187 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 101e07b9-3413-46e1-b966-d8ef6201a7a5 CLINVAR:666187 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3b878c1-00b9-4e49-84a5-1f9b7f196183 CLINVAR:532666 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7ea192c9-4a14-42a8-85b6-5be1a5622ac9 CLINVAR:532666 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db3b16cf-ef99-4b0c-846e-5936a33a2e27 CLINVAR:660838 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71fa61f7-a4c4-4a47-a4eb-507dcb95cc11 CLINVAR:660838 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f2342b7-b38f-4ad0-8fc5-1890014de887 CLINVAR:843935 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b80aa3b-cfb4-47dd-8466-c80d88dbb365 CLINVAR:843935 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6149298f-0c6d-4530-aef4-e3f342e47455 CLINVAR:861043 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e96c58ec-7b18-4540-90d7-9707f3100e80 CLINVAR:861043 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37aee72a-6f56-4821-9ba5-470cb7fcd266 CLINVAR:898729 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a9e6fbde-9913-4941-ae61-f25e62bad626 CLINVAR:898729 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e9c76cf-f809-426f-8f92-bff9669d752d CLINVAR:747644 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 12117c58-fac5-4b04-97db-487fb02e4134 CLINVAR:747644 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59f99214-4ef3-4bb4-ac50-ff8ac4f4bc0f CLINVAR:1069299 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen efde69a6-41c0-46f0-ace1-d75c040bd17e CLINVAR:1069299 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c22c9385-cc84-4061-aca3-cfc02be63d5e CLINVAR:1076589 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 50afa65d-1e00-46d2-8cef-515407322922 CLINVAR:1076589 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c50ffc3-3989-4fe5-83eb-126263ac5666 CLINVAR:1124345 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 447401cb-f86d-4314-a631-32422cda12d7 CLINVAR:1124345 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cb2d856-5e47-4cf9-80ce-51124c6f8f25 CLINVAR:239058 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0583e40c-d03c-403d-add0-81e6e03665ea CLINVAR:239058 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23592347-068e-4559-8604-69f4f1d03bb9 CLINVAR:1099856 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23e79ca9-bdb9-4b13-973b-85ba493681bd CLINVAR:1099856 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a64bc1b7-a601-44a7-af20-5cfef50b8fba CLINVAR:1142684 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 021b4a24-32d4-4799-838a-6123899ad7c3 CLINVAR:1142684 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9414a24c-b223-4e69-b45c-f8d7bb22651f CLINVAR:1088939 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73ecef66-91b4-4ecb-bb7b-3c81be8e8f81 CLINVAR:1088939 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3dabcdb-510f-4e09-9a90-972ada3faaa9 CLINVAR:1144056 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d4f45449-2518-4baa-b77e-371d7869ab97 CLINVAR:1144056 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 572169e7-bf0b-449f-94b2-0755755db2ed CLINVAR:761366 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9f486027-8eb2-4ddf-b945-86ea1cc02328 CLINVAR:761366 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e221401-0b8c-4ea6-8e97-ced50cd2f568 CLINVAR:1165599 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b051966-c518-4407-953e-dcec8d1adbc2 CLINVAR:1165599 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28faa73e-a360-459a-afc0-a9ccb4b76d2e CLINVAR:812740 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dc588cec-2b78-437c-8cf4-c3f340b0c158 CLINVAR:812740 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fefc7af5-7306-4d25-ad2f-37d85157aa6c CLINVAR:532661 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 13f20d2a-77ad-4f26-8eda-f9cadaeacfc8 CLINVAR:532661 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27454f1b-ca9b-46dd-9a93-09fa9bcfe6c3 CLINVAR:1013620 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a3c0d462-8ce0-4f5e-970f-67458a025d79 CLINVAR:1013620 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f562a75-9b3d-4e71-8ad2-1910e3dcacb5 CLINVAR:580539 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e621babe-e2fc-4257-8628-c1b8c9b7d7f2 CLINVAR:580539 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db0d7654-10af-48ad-ba3e-ac713f06d30d CLINVAR:941820 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e0b6e633-5cf2-41e4-9383-4c6403f1b894 CLINVAR:941820 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf175285-bdc8-43f2-9bdb-a4d16b0b24ab CLINVAR:1000131 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen badccc32-b47f-4597-9941-b3e3b2c7c341 CLINVAR:1000131 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55e537e9-aed2-43fb-bdf9-deb2487fe609 CLINVAR:532685 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a3b534c8-f376-4d86-84fc-30e64f80d7c1 CLINVAR:532685 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c16f10fb-6d45-490c-a9c6-9a79dead5aa7 CLINVAR:464000 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 476acbeb-664e-4ff0-ad12-aa6caeba79e9 CLINVAR:464000 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a24d7cc3-c4d2-4a99-a9aa-49de355ed802 CLINVAR:1142095 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba6eda6b-e3de-4360-8e33-c799017b68b9 CLINVAR:1142095 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df9f65a3-d563-4b0c-9987-cebf73e1ba6c CLINVAR:463976 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 079b4204-35f7-44a3-8474-39748713ee44 CLINVAR:463976 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97ba5254-41dd-4394-91cd-8557de09f8ae CLINVAR:706138 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d4e937c4-db14-475f-ad7e-7129737d6690 CLINVAR:706138 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9c86866-33a1-4fcb-a61f-dc97d7dab704 CLINVAR:1012038 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b614028-2854-4672-b05e-7863dc263d49 CLINVAR:1012038 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1325219-44b2-4420-a7c9-860f42194fc4 CLINVAR:1116571 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9fdc064e-df3f-4c0c-8eb6-2aae45868385 CLINVAR:1116571 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b86cf95-3d4f-4c0d-9b77-f0c7d308fe70 CLINVAR:1135117 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c04935b-0c0d-49c7-b18e-b8ef539ee618 CLINVAR:1135117 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06eaf679-c77e-4521-a3d5-b9a17b632a33 CLINVAR:627081 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 90cbc7da-480f-4ee3-8044-d61662ca5b30 CLINVAR:627081 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ae6b39d-19bc-48c4-bb6b-50a9c6190a03 CLINVAR:4468 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 07c8bbfd-8901-43f1-a358-705dbe7b4fe7 CLINVAR:4468 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73fa6e7f-bee0-47cd-864f-cce18c9b0a79 CLINVAR:690480 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b9b835f0-a08a-465f-bd7c-10e80ef946c5 CLINVAR:690480 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63a02a6b-5795-4be7-98a3-c6d3b428a639 CLINVAR:412119 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 941e2cd6-4e93-4d75-9896-1e3eaf2effcd CLINVAR:412119 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05361d7b-079e-4e32-b8fc-e9a4788b1b84 CLINVAR:254350 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2d2c0dc7-5c0c-4b9e-9573-16e7212e28e5 CLINVAR:254350 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b935eb7-c28a-4828-ac09-0b076a19db7b CLINVAR:690454 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e6169fac-5104-443d-b630-74f53303cc48 CLINVAR:690454 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ca4287c-6e5b-41a8-8323-c5cc48f905b9 CLINVAR:254344 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5ea4987d-dae8-4580-b75a-514fb77521e1 CLINVAR:254344 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42b871d9-1014-4583-94a4-231668399b7c CLINVAR:254287 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 36c077b9-f3cd-453e-b93d-ea9de8c044ca CLINVAR:254287 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c01ec172-6c92-4aea-857c-cac70c9308e5 CLINVAR:429113 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7562f808-d5e2-4e9c-8f42-fa7558aa835a CLINVAR:429113 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e795418-5513-42ad-b1b5-5548cab657db CLINVAR:254298 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d8f4489e-646f-4ef5-9387-8c4a39517da3 CLINVAR:254298 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0dd61b8-a287-4e86-bae8-3fda44d95e8e CLINVAR:254355 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dbec4935-eb6a-45de-a166-40fd6a9b690f CLINVAR:254355 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1c096b6-d510-4243-9243-0b30db418c1b CLINVAR:254310 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 953cba87-01d1-40a0-95aa-da11257bf581 CLINVAR:254310 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c884e69a-0fab-47e9-87e1-4c98dea47c47 CLINVAR:429148 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a98eaf04-4708-4f30-9a72-c6c2bdc7bf0b CLINVAR:429148 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb00271e-c53f-49e4-bd92-edf3aa6281d1 CLINVAR:429116 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5bcc6aa8-7821-40c1-8417-aeb5d60ae6e5 CLINVAR:429116 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74cac4ad-73c9-46ff-bf83-6f9e1186703c CLINVAR:477261 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f1cd026e-3613-4fe3-bbb6-342208df5846 CLINVAR:477261 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5164651a-304f-4747-96f1-13557729abc3 CLINVAR:436614 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 82b7bd54-16ef-47f8-ab07-b33679426575 CLINVAR:436614 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b071616a-f891-476e-9df9-de4e393e0e4f CLINVAR:627384 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 550ffdd1-fbcc-44ee-813e-a09a0abb3e9f CLINVAR:627384 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6582f06a-ec2b-4f8e-abad-1cea4847f83d CLINVAR:575111 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5472a85-5c67-4650-ab7b-87702af37ca4 CLINVAR:575111 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81f72933-e6bf-47b6-ae95-6783dacad315 CA410202503 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d79b4d73-cee1-47ef-9098-e6f0988786d3 CA410202503 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06c9c2db-7996-4984-9113-f8463cf676f2 CLINVAR:464008 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 043e432c-ed26-48ae-9100-fab29dc7dfb6 CLINVAR:464008 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00e0ebf4-6df2-47f8-a98d-6b848b80f0b0 CLINVAR:574330 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 749aa81c-4ce1-4807-978d-ccc310939c8e CLINVAR:574330 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b489787-d424-4998-aa51-c3014e72da54 CLINVAR:580203 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 34d6125d-102b-457a-af79-6997e4bf5514 CLINVAR:580203 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd76f65c-7ae2-4166-ace3-430a2e782a8c CLINVAR:650411 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bbf51ca8-acee-4b4b-a85b-3719dcfec371 CLINVAR:650411 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce1c9ecf-dfb4-4d79-8c89-0205e3540ae1 CLINVAR:566588 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 04b050a3-10d5-4827-a99b-003175f1b17c CLINVAR:566588 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e1162fd-f2ac-4a67-8584-1ae7e6266a26 CLINVAR:649946 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b088a429-f421-4335-a69f-ab23e59ee734 CLINVAR:649946 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d7633f9-ff56-4f92-a94a-7ddd751018fc CLINVAR:392183 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c58449d8-aef6-4267-ae65-8535221d314b CLINVAR:392183 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a55477de-80f7-4c63-966f-5c7b1a2e688c CLINVAR:242130 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 72244ec1-fd81-4dc3-b3b2-3bfa86fbf6cb CLINVAR:242130 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d89e44b-635f-40df-88b5-c2459ff0b0ff CLINVAR:947388 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c9cbc40-a084-4a09-8fa4-3f7fef893edf CLINVAR:947388 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1ccd954-6cb5-4f0b-8d96-e6c27a94715f CLINVAR:412120 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a29a68e-306f-4883-877b-de88446b3909 CLINVAR:412120 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de987e80-6858-4e57-b8de-2392bf19c47b CLINVAR:242076 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b245e523-7ac5-4f45-aff5-5e48e50e03cf CLINVAR:242076 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d42009e-9146-4ee6-b174-0480ae5f2faf CLINVAR:477260 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 09e90895-200c-47ba-a583-3db91e382020 CLINVAR:477260 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db04c215-7760-4c63-a1f9-38acb584cee0 CLINVAR:690445 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen de68bead-e779-452a-87dc-781eb67e855a CLINVAR:690445 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0854ce9b-9831-4d40-8889-d3da4896722b CLINVAR:133202 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 310f760b-56ee-4a59-bd81-fdf5fec1982e CLINVAR:133202 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30d063bb-55de-4805-a74d-0a2a20303370 CLINVAR:478159 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a52df97d-96e7-4b33-afbf-ae37ee4be231 CLINVAR:478159 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4768c895-0a3a-4cc6-906e-97bd61b2f1db CLINVAR:133174 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba435da0-0d4d-42c6-b362-7d0c6a51686f CLINVAR:133174 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ea14aeb-c1d6-486b-a3b2-184bf86c4be5 CLINVAR:65981 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 92501902-9e86-40fb-ba7c-157199c97a78 CLINVAR:65981 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a05c8f1-81e2-465b-9a7d-f00c965e9b4a CLINVAR:133028 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc83ec22-e7c9-4754-a37a-63c4c9175e7b CLINVAR:133028 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dda0da0-c5c2-43a9-9dc0-120977ed4e5c CLINVAR:133012 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 90f75981-0766-43bf-9b17-1757c0e95dc6 CLINVAR:133012 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d19f6b90-1775-46da-82c5-59c6d4bf2931 CLINVAR:133098 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e7d540cc-6970-4b4c-9c65-4e1e31dbe9fa CLINVAR:133098 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6784e9ca-5644-40e6-a864-cfc35eaad660 CLINVAR:133074 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 89475bd5-d354-4c7e-8b97-428df9eac386 CLINVAR:133074 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1883803-fbd2-4bed-ac88-bc562f99191f CLINVAR:133072 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ee0cee8e-769d-4ca1-8835-5ca2c29ed7a2 CLINVAR:133072 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d756a149-4c84-40ff-9fc5-4d91168dd622 CLINVAR:12978 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 78b65727-b5e4-4654-b82e-8103f9ce7a87 CLINVAR:12978 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 871ba1c3-e755-4e7e-b6aa-c7abdde7fea1 CLINVAR:133240 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c34021a0-c2e5-42ee-8f14-84e101c555ba CLINVAR:133240 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 609266fa-92f9-4849-8f85-ae44c6fb9b11 CLINVAR:65980 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0d79dd4b-7570-442b-8572-6ef1b7870221 CLINVAR:65980 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 525d4e37-eb61-4793-95fa-1060d9710a7c CLINVAR:65979 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 609b6c19-3f33-4572-99ef-12182c230cf3 CLINVAR:65979 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e65c56a2-c6ae-40c7-a3a5-e3ba7cad9b8d CLINVAR:12966 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 22edbfa7-84e7-4bb7-a3d1-d71c59bc7b3f CLINVAR:12966 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d952d56c-1929-46ed-9aad-809a8e12755e CLINVAR:12970 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 784ab2b5-60cb-49d8-9667-f8b9b580ab9f CLINVAR:12970 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02d43f0f-33cc-49ff-9824-544191aa52fe CLINVAR:133189 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen db613c8b-2392-4fae-94d9-758988bbc3d0 CLINVAR:133189 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0dcda4a-4623-4cbf-872d-124c3804186c CLINVAR:133183 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f76b5c78-b5f6-4f98-ab93-37d97596b7cd CLINVAR:133183 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4947b7b-3ceb-4859-afcb-4f36ad8d2528 CLINVAR:133180 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1e716c6a-30f1-4b2b-b43c-8295d391455f CLINVAR:133180 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 478f0750-efc6-468b-84a2-184a60fa12d9 CLINVAR:12965 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b4eb907e-0e31-4e00-88d8-9b6dcce4d889 CLINVAR:12965 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dacb57b-6850-49ca-b47f-04058a8c25fe CLINVAR:198090 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2849d498-e599-45b4-ac8e-f2efad6c716e CLINVAR:198090 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23b48cf6-57f9-46c6-9103-fb9292c5341b CLINVAR:448981 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 444fa987-b23b-4ee1-a958-30eb104bd2af CLINVAR:448981 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea00ae24-a426-43ef-acd1-0de3d6dc0527 CLINVAR:932849 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e704d3ee-cddc-4a88-9cf4-d0515d7c9ad1 CLINVAR:932849 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 975654c9-dc7d-4602-b9d8-d46430e8cd74 CLINVAR:932850 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4184b0fe-ac0c-4d96-a6bb-972370e7de51 CLINVAR:932850 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6e5c15a-940b-4627-8581-bcfae05b6135 CLINVAR:840694 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f8666935-bec9-4a41-a4fc-5de93dcc4dd6 CLINVAR:840694 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e07b847-5c68-4018-ae39-bb0a5544f93d CA397723954 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 20bf588a-dbb1-426b-b7ec-0f597a1200f6 CA397723954 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53de8a4a-bac8-4d6a-8876-d9351d6fa4c8 CA1139768925 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6d2e734f-0cf4-452f-a6bf-441101c6850b CA1139768925 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d9ee635-cb33-4628-97fd-cd1bc7673b8d CA16020958 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 41c3fea9-c9a1-4d8c-84a3-a06f67bdc9e5 CA16020958 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dedf82d7-09ec-474b-b172-5db8a4d48258 CLINVAR:102522 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f456dfbe-f4db-4a79-b541-4f6ff19b5b32 CLINVAR:102522 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f447bb2-b1aa-4ba1-9aa7-9eb3f2381290 CLINVAR:102524 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3586edbf-8970-4167-891d-de793280f1c0 CLINVAR:102524 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92ca5968-abaa-4b4c-b9f8-6b265d7c6e43 CLINVAR:102548 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eae463cd-0427-412b-9e0b-8dcd3682d8f3 CLINVAR:102548 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 756ac5c3-6342-4003-b340-288106b7313a CA386304006 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e4b2cb61-6b0f-4743-ba99-625759d7b12e CA386304006 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8c7b8fe-1b9f-4b5a-a13a-69b6258a0b95 CA16020928 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76bf4b9c-e324-4012-9e40-7d84a9702fdd CA16020928 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32391af5-6712-4327-adf8-50d02f7cfae5 CLINVAR:102855 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b4390df3-e6e4-4882-9e42-867e0fa72017 CLINVAR:102855 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b5ee57a-81b4-425b-85ad-ccf77436c364 CA386493446 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 96181f4a-1cc1-47ab-9126-b7da2aca60b9 CA386493446 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2d78323-16c2-4cec-85c5-98bafc2a652a CA386493436 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c54060f0-cc8a-4713-a062-8dbafe126fb1 CA386493436 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d93e106-395b-4938-b90e-2ecd4a226b62 CLINVAR:164401 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen daf993b2-afff-49d7-9bb3-9537042f1755 CLINVAR:164401 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30990165-f70b-4ca7-a5b7-f803471d392c CLINVAR:43098 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 284ee27e-68df-4e22-9e37-b51cd59d5d2e CLINVAR:43098 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ffe5eb0-b721-4e98-a412-9bb607a519be CLINVAR:177627 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ec81f228-73c3-4fea-a0ef-7e6bc0c7660b CLINVAR:177627 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84a67007-fabc-4785-9d65-d83fcdaccc81 CLINVAR:181267 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5c09280-9a25-4ed4-97c7-8493c2dc13de CLINVAR:181267 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36a79228-59bd-49f7-9f7f-c04cf3e974d0 CLINVAR:42834 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 39572938-3841-4ede-9feb-dccaf95748a0 CLINVAR:42834 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9daa7eb9-93cc-4740-bdf4-2764473fb8d7 CLINVAR:228918 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3cb0d3d5-6508-4de3-bd12-db28be92b9ea CLINVAR:228918 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba403b88-e93f-43cd-8b02-ab7d3ce76798 CLINVAR:181349 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 22785529-0a81-48a8-8216-dd10b5b5d430 CLINVAR:181349 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d85ee8b2-b9d0-459c-9468-f88e80adbac3 CLINVAR:42912 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b16f9752-14fa-47d6-bc2d-8cbb5a41f592 CLINVAR:42912 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39335205-f008-4df0-918d-0436f8f233e7 CLINVAR:181202 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8eae1fb5-dfa9-40ec-b664-ae7c4036d6a1 CLINVAR:181202 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25b0513b-63f6-4d40-9ca5-370e50e1bf48 CLINVAR:164351 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 37c15e93-8340-46a5-a913-77c5d3d4eafd CLINVAR:164351 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ea949e2-3b6e-45fa-9495-bd74e5341286 CLINVAR:43110 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ef646c85-000e-4d7b-852d-b918c0e4e0e6 CLINVAR:43110 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c5320c2-d1ad-4a52-8e15-1c8c2e717299 CLINVAR:181324 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aaa466c6-6c17-4e7f-8abf-aab18d4a3d0f CLINVAR:181324 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b4b073c-2df5-456a-9033-eeeb8c38a9ac CLINVAR:264607 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53a0b5a3-fde2-4e41-9294-84c6b3f80560 CLINVAR:264607 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ba7e349-58d6-4b64-a9f9-715b8d454ce1 CLINVAR:43196 biolink:associated_with_increased_likelihood_of MONDO:0700087 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 19b7c36f-6916-4ee1-8b6d-696a6c24a50d CLINVAR:43196 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdce9403-ad5e-4a19-90bf-fa478ec6f78c CA1563057 biolink:associated_with_increased_likelihood_of MONDO:0010986 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9352a24d-2556-42ec-a49f-8c787d51999a CA1563057 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb796b61-dcd2-4f50-a80d-da493677ce63 CA386964305 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5ddb5ae-a3d0-4c06-8a81-dd0485244aee CA386964305 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed1fcaed-f90b-4803-a304-09e6544fff16 CA386964398 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 27521d9c-1b47-4af7-a8f0-dc1a4f1a6704 CA386964398 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca2689fc-6a66-4564-b9bb-b2f1aad65fd8 CA386964418 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1416cd55-f44b-4b80-92a4-9e821cfb526d CA386964418 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f88ed96-fbb4-48f1-ac36-b6ca8ec4e6d0 CA386964769 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 63c85073-bb97-4f2b-a983-ee4e42406502 CA386964769 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e40485ac-a9b8-4160-8890-3b70c0166708 CA386965156 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0932b21a-7d27-47d0-8782-6db5035e2e3b CA386965156 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49df6d89-0d44-467b-a633-e8a332dcdc81 CA6831794 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 32f60009-36b3-4f11-a964-9aca9cbed7f9 CA6831794 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e807c42-5a6b-4806-9683-90702d75ad71 CA386967815 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 39c1cd47-1a3a-4e6f-99e6-be563a775663 CA386967815 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f432a388-6953-4dfe-ae09-a91d8c0ee162 CLINVAR:36833 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bb821363-6e6e-4348-ac6c-1bcca9bbd92a CLINVAR:36833 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f846ddd-da50-48cc-a8c9-a3bf716d68ee CA386958691 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 08564316-d8b9-4d7e-ba08-86135596c036 CA386958691 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8551c03-4408-495a-a3c1-de15b110be75 CA386972011 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6411e1fa-5495-4c57-a4ec-809fab5e993c CA386972011 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 902c3e9b-cc05-4efb-95f4-9cbb7c265619 CLINVAR:203585 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2120d3d7-6c83-4da4-9916-a6ccf293d1c5 CLINVAR:203585 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db33de1d-9298-45d4-95f4-adf0394ba0b9 CLINVAR:371449 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 03c24ff4-241f-45dd-8ff3-d797a257a8ea CLINVAR:371449 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76fe87d9-425d-4ca1-b254-d25eb99756ac CA397722455 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7c24b90d-e005-467a-996b-4bc25cc253f5 CA397722455 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71a814d8-f975-4c74-bb26-148c450f7a65 CLINVAR:21025 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 45a70f36-90c7-44e6-b596-eb5f6041f54e CLINVAR:21025 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05c7937f-7d36-478d-8434-7ef8b8aa9c95 CLINVAR:92275 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 793ada1f-385c-4ff2-80f3-c69fd98dc735 CLINVAR:92275 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c617b78-0587-411f-bfb2-d05c0f2ea3dc CLINVAR:440555 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fa68034b-30f0-4ff5-a4b7-398048732a3e CLINVAR:440555 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6ecb5ac-533f-448f-ba0d-03ef8eab1316 CLINVAR:251105 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3d3c85d0-ec3a-4723-af2d-e3f47d0e09d4 CLINVAR:251105 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8b5062c-c4df-4056-89e9-65727128119c CLINVAR:251699 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cbb08f72-161d-4436-8928-625c306388ed CLINVAR:251699 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9c7450d-0696-401f-adfa-72f6621e4605 CLINVAR:3695 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 100d6daa-8f28-4f02-b157-6acde335c9bf CLINVAR:3695 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08199aa0-265c-4028-8daf-0d098bb36f13 CLINVAR:36454 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b268e4da-84df-41a7-9308-dcd22ae80a37 CLINVAR:36454 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8696fb3-7673-4cc5-8e9c-89400464d4df CLINVAR:162499 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0d547518-7b06-44b4-8179-8ea54251fc6d CLINVAR:162499 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be51c3f5-9bcc-46fd-af84-8d1da4b81b13 CLINVAR:226363 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0a5770dc-c4d3-44c2-8361-a1180d48825f CLINVAR:226363 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a26f6d27-e7c0-42c2-b6ad-cffc4c31997d CLINVAR:251938 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d02ddeb4-e692-4519-8a72-389d4df59802 CLINVAR:251938 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f947edbf-0498-4615-b21a-e6db3e29143d CLINVAR:251085 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c64a64bc-7abb-450d-8458-37259f902cf8 CLINVAR:251085 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b1b3f62-0200-44f5-8cb0-27502cc39472 CLINVAR:251436 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7c06b638-ff8b-432f-96f8-fc4f1d166923 CLINVAR:251436 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0fb91ea-82f8-4a66-a1b0-2e7758422d0f CLINVAR:375806 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dea88fa0-b8e2-4cf5-90e3-8d4019ed053b CLINVAR:375806 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c937fc16-35e8-4254-9139-a4879cb0d446 CLINVAR:373769 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ea6f827b-ee84-4029-ae07-3d21ab4f7d44 CLINVAR:373769 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b582ff4-9d55-4a1d-800c-d69e75a10371 CLINVAR:252302 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 520ad2f7-2e36-4ce3-a4db-fec0d42bbad6 CLINVAR:252302 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69278392-4d8c-491e-b6fb-276725aedfa8 CLINVAR:250954 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f65bcf0d-3a75-429c-87c8-6469afb2335e CLINVAR:250980 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ac9d73da-8647-4520-8a1f-931008b8e5c2 CLINVAR:250980 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0315bbcc-de5c-4970-be28-9fff348f7f15 CLINVAR:250981 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8326a39a-c0db-428f-b0ac-8e284d39264c CLINVAR:250981 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faa88df2-4f9e-4fce-b644-0924922a4d7b CLINVAR:251926 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c395433a-1574-436a-9c57-4877c30f7ed8 CLINVAR:251926 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f27ffec-26fb-4733-9787-f690b8725d78 CLINVAR:252330 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 64e8a1e4-05bc-4c2a-a350-e790edae6ed9 CLINVAR:252330 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 343a6550-ee67-41f6-bd12-5d16702ae2bf CA1244346 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c799f3c8-2af6-4935-8876-8299c3947ccf CA1244346 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d9ff2fa-7ead-4c34-a49a-5577ae56dc91 CA343720163 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 273fd1d4-4b87-4414-943b-c6a082a09f3d CA343720163 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7171f02b-54c9-446b-8faa-23390935940f CA343720077 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 80dae5b0-8257-45a6-a0c0-a149a3b9f3b0 CA343720077 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f63c7955-38e8-4300-9fbc-7567981b97b1 CA343720226 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33612f9f-f9b6-48a4-896d-386f733b1ddb CA343720226 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3d3162e-7b24-4ef2-8575-931341d7c4e3 CA343720151 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ae4eebd-deb4-44c8-b448-4e516f8203e9 CA343720151 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e9d72a0-54bf-4cce-b5d8-cf1f95dd8402 CA421938891 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e924e5a-c589-4c18-9180-da2433ae0961 CA421938891 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 289cf20c-3380-4347-80f2-e743b1682520 CA421939550 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7d7205be-3884-4f16-9ae7-928e6c396490 CA421939550 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f088b612-b5f9-46a9-8149-2b055df35faf CA421939469 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 156d49ca-b834-4da1-9bd6-05d55ad1ac28 CA421939469 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fef3de0-8344-4377-8c7b-ff59af8005a5 CA1244262 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fa6657c1-f339-4c76-978a-fb010489a721 CA1244262 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aaa5863-9f9f-4212-8ff3-d096f6082168 CA343717998 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0573b4a7-6183-442a-925e-934f9f14b3dd CA343717998 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6485b6d-e344-46b4-863b-f18497455baf CA343726928 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e6a9b69e-1903-4b69-8001-318ab58911d9 CA343726928 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27fbd83b-207d-407c-ba9d-a20f96170ea0 CA1244332 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6479efdf-7628-42fd-8e4d-b1b01d9d24c7 CA1244332 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae27b560-e8b5-48f3-b593-270e9c3b3835 CA1244294 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6cd0aefa-4c4c-4f7a-8c88-8b2e13d75c89 CA1244294 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ba526bb-d731-48b5-8c42-49e095527f39 CA1244266 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 55a18aa5-f6a1-44aa-8237-8dc059388c0c CA1244266 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f39a79ee-4a32-4873-b8ee-b1347e6c7bf8 CLINVAR:9712 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 914e3fcc-4bb7-4d99-bc18-af4c7ddb2835 CLINVAR:9712 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 865947d7-3039-4e73-9348-48a2aa8025f6 CA658682658 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 49075d5d-a59a-42d5-92ce-0ebb74451ff2 CLINVAR:693516 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a29e7be7-7a76-4946-8f03-8025fa68d349 CLINVAR:693516 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d69e0d36-0529-4750-832d-edbd351c0b43 CLINVAR:9715 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec9305ae-aaf9-4150-9214-7a4cf3025b67 CLINVAR:9715 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3d14adb-cff7-4caa-9cc8-02dab112a142 CLINVAR:65518 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8d71d93f-d67c-42f9-9d0d-d8611f31d576 CLINVAR:65518 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f39cef7a-2e28-43a7-9e43-a946cd9fa232 CA913169025 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d6b74bae-f360-4442-9b92-0d608fa48a46 CLINVAR:11505 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 021c7c46-52fe-47ce-aa50-51ef13a60672 CLINVAR:11505 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19792116-ff87-405e-afec-b8cab9ebf793 CLINVAR:929426 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1c66abf9-3c61-43cf-a79e-20f15814387b CLINVAR:929426 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcf5b148-140e-40d8-98bb-d79931b80cc1 CLINVAR:489299 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c8f4e69-b3ac-4627-9b11-912e3202d2de CLINVAR:489299 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61a00e6f-8652-421e-8edf-f6812323c11e CLINVAR:432427 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 72e419d8-2a93-453f-9f2b-beb8e337502d CLINVAR:432427 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5897c88-d123-45e0-802b-2d2d73c1572d CLINVAR:643438 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ae8b4f1b-cd2e-4b59-9efe-d15dff85c8e7 CLINVAR:643438 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b4ae4c8-a4c5-4aae-b605-38a2df99b47b CLINVAR:487576 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7ac591c4-a532-4219-9add-2158d3ae1b66 CLINVAR:487576 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97485d83-1f63-4b94-b663-db8c73997532 CLINVAR:143749 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2c96b9ec-9f56-4ef0-badf-a7cb152e690a CLINVAR:143749 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32099f5e-2e2b-4a7d-a6b1-690e6c5f693e CLINVAR:156615 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 529dfeb8-6045-4a61-9d05-3fa51f2955e0 CLINVAR:156615 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0fff180-3e86-445a-bdd6-c0fd529c039a CLINVAR:143754 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4cefed14-8820-43fb-8414-0497dd61fa26 CLINVAR:143754 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2993f1f1-cf82-47ed-8e5f-0d3c48a4fbfe CLINVAR:133026 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 352c8897-9c01-4488-b22d-e5ef40d0f75a CLINVAR:133026 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e962108-a2ed-4e91-aa39-287f52ae6d4d CLINVAR:650932 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 547b722d-23eb-499b-b2f4-96b72bb1e060 CLINVAR:650932 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99e3225b-3cf6-482a-9bca-203f6a7fece4 CLINVAR:65996 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2efa5638-0135-4570-a72d-d25cdfdcbf0f CLINVAR:65996 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bffce131-1dda-4e37-9174-95ad921c2a10 CLINVAR:803557 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c4ccb308-92de-4294-a527-e31e11a26844 CLINVAR:803557 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7beb5b0-9e20-47f1-99a2-42a9a279a2e2 CLINVAR:133027 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bcec075b-e25a-461f-ae3d-45a0c1ec1d83 CLINVAR:133027 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3c7a2db-6d0e-487d-b1a9-180f8f256988 CLINVAR:590582 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a4eb3983-3298-4739-92e3-209f86489d45 CLINVAR:590582 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2feb2cc-f4e1-4ce2-b3b1-87af245bf2d6 CLINVAR:803555 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ca378428-c376-4ecc-b6e4-27d70e735c3a CLINVAR:803555 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dde6bbb6-2d35-41ee-b760-e5adaa7d4a6c CLINVAR:133203 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce045b6d-5e10-449e-8103-2dff6a6c475f CLINVAR:133203 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebc688ad-8548-458f-8a10-ef657763c683 CLINVAR:803556 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c1caac0-d602-4b8d-b5ee-be3bc6d351b3 CLINVAR:803556 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eb313d5-1cc4-4a7a-831d-d6524355f00c CLINVAR:938242 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 895c8b84-bb9f-4e8c-9329-c803a17cb4db CLINVAR:938242 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3bdbeaa-c7d1-49c2-915a-34b41b0360fe CLINVAR:4021 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8e5b14d5-5420-448f-a824-a54c648b77ce CLINVAR:4021 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0edb5d35-723d-4837-b4c9-0df277fd795a CLINVAR:456391 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a313d3f4-d8ec-4f1d-aba7-ecd263f42ee8 CLINVAR:456391 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 490f103b-f67a-47cd-b38c-829736a05724 CLINVAR:286469 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 741690a2-7eb0-4c64-a5ea-5355e4a82481 CLINVAR:286469 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1962ec11-db20-4cff-be37-5361ad167530 CLINVAR:371226 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ea452eb6-1535-4be0-a98b-d01b02dcf9ca CLINVAR:371226 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81bf7a60-607e-4901-8c33-80dca370fbdc CA658795267 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6ed68921-a792-4cb6-adca-07f9408971d4 CA658795267 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c8983ab-6770-4b7f-9831-0f3c48992bdc CLINVAR:188786 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 597a1df1-0fa0-4e2f-87f6-8b2c1ac3cf6f CLINVAR:188786 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e00e0ca-0cfc-44b8-9d09-703f3ad7cec1 CLINVAR:935199 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8634d967-fcb8-4b4f-a727-9ac4ad7871fe CLINVAR:935199 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c1930f4-ee6e-4131-8f3a-281a033ff892 CLINVAR:392862 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f844d738-979d-4b26-96e0-c319f4cca5d1 CLINVAR:392862 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a514313-c34a-4dca-b710-5f959cfead60 CLINVAR:432217 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5cb4d55b-aac2-4764-848a-d77e65cbc466 CLINVAR:432217 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ac923b5-a70d-4d84-87fa-052744abc7ab CLINVAR:552527 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2cfac2d8-cec5-4ae3-abec-e53f372de3d0 CLINVAR:552527 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c5c1c33-354e-4b34-a9a5-c9f8810b0313 CLINVAR:843677 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 85d38036-c952-4d6b-ad81-c4842374cf73 CLINVAR:843677 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f859f7cc-1053-465d-a3e9-a54fd2698406 CLINVAR:554339 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0c109b21-4dcc-42d6-99c4-48d41ee8e141 CLINVAR:554339 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01f1058a-e0b6-41d1-b8c9-a17e7b0b537e CLINVAR:856881 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 879dc51d-ff26-47f5-ad01-6ef2bca9ac94 CLINVAR:856881 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15de5830-cdbd-4ffa-b689-503c88927ec2 CLINVAR:1073045 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f5af27cd-510a-4fff-89a9-61b378e893e6 CLINVAR:1073045 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 529584dc-2cf4-4835-adc9-0697f7e00c1d CLINVAR:618506 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dca2e01e-9609-41a3-baf5-51f9f1f4b58f CLINVAR:618506 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5efe0123-f9e7-4626-95e2-eae77bcf0d48 CLINVAR:846935 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 76c832d2-b5f6-4f9c-b752-aa83361aad6c CLINVAR:846935 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4a3541c-4763-4c71-a3cc-22f77ec3fafc CLINVAR:1626 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a0133358-cb16-44fd-8f34-c5ffd324c20f CLINVAR:1626 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50d50d90-20d3-42c9-9dd0-7704f40e3c30 CLINVAR:422995 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 658f7130-8f18-49af-b113-5367e7a8f6e6 CLINVAR:422995 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cdf8668-ab24-4293-a0e5-dff15ca06ceb CLINVAR:932787 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e7d31f44-14e7-4e7d-b59f-fd5cb383f3d7 CLINVAR:932787 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d1e49d7-57c6-4d44-8c4f-2c10bd15b99a CLINVAR:370686 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aa149fa3-e647-49ee-b2f6-bb3479636470 CLINVAR:370686 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a09e3b61-b9ff-4430-b5ff-2b2ae4cf2c32 CLINVAR:203580 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ced09104-05cb-43cc-b08e-7d1976c95c5b CLINVAR:203580 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 725077cd-9be1-4d6a-acb0-9cc5746e7b03 CA397724300 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 546dba8c-3bd0-4410-a3fe-1fdd18e14d75 CA397724300 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eeb27341-8127-469b-88ab-58173552b888 CLINVAR:166638 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 999cab89-ceb9-48b5-816f-fdd445284020 CLINVAR:166638 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5e1301c-2304-4531-8307-7896f8b1ed2a CLINVAR:557575 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c2d1d7fa-04fe-414e-be66-500eedb046f7 CLINVAR:557575 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f573dea-c027-4995-9c95-3f02cb06cac4 CLINVAR:370482 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e47caff2-e69d-470b-adae-8574eb733355 CLINVAR:370482 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7c10617-b4f5-4110-bc6b-19e2e80db50e CLINVAR:567061 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 55794d5c-be24-44cb-aa15-aa420ae863cc CLINVAR:567061 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3963350d-f2ac-4310-b154-655c09301dc7 CLINVAR:203593 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2b65dacf-f202-4b0e-ba9a-b44f4857aed8 CLINVAR:203593 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2818ecc0-1092-4d84-96c8-da5fd22e24c6 CLINVAR:581398 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2cecbd62-e668-40ba-8a65-0f1aac47603a CLINVAR:581398 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da04cd38-8b1b-458d-8d50-9c6155af95b2 CLINVAR:932848 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6f6b83b0-846a-4e65-b8c7-74917c72352a CLINVAR:932848 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d49b8a6c-6584-4470-ba3a-3eebc451f378 CA8337657 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c11e617a-8d95-4170-89c9-190fc28f5a11 CA8337657 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b4a54ad-4618-4cbb-823d-3e055fb16215 CA397722888 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ade3ddfa-12e8-49d6-b004-01c0c64dbd45 CA397722888 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c17f62f-1382-4785-b663-1fb80374ea95 CA397726273 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 24d753ea-96e3-4254-806f-57c4c476eb80 CA397726273 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb9b99a0-63a0-4135-b33e-1c0e16882ba9 CLINVAR:193541 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b3061dad-5210-4040-bb40-347200afbb29 CLINVAR:193541 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81d19cea-728c-44ab-b3f9-668c916a86e9 CLINVAR:203570 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 246547dc-a1d9-4045-a797-8524aea1f307 CLINVAR:203570 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5b1dd9c-511f-41a3-942e-493e0e99dc0c CLINVAR:254700 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c60c47c0-146a-4265-8771-b4b2f2c8c9a8 CLINVAR:254700 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f44d406e-1b3d-4e61-986d-b40fe49e830e CLINVAR:553583 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7e155912-756b-4dfd-a96c-19c8ac7653a1 CLINVAR:553583 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54da1cb6-d18e-462d-81e9-5e62219ae2f8 CLINVAR:216422 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fcf481fb-4575-447d-b8c1-bedf20a3918e CLINVAR:216422 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cdedbd9-adad-47fb-8269-aa3d7c833add CLINVAR:419119 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9528ab80-f9fe-4d48-9e72-08920edb5526 CLINVAR:419119 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36c9d80e-bcbc-4aef-af67-fd70f469e5c1 CLINVAR:279878 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8fb95a61-713f-4375-806f-ee65dfa3cf6b CLINVAR:279878 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb9b7e85-6d45-420e-ad48-fce65ebe5fa6 CLINVAR:420491 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 47e2234c-e41a-49eb-83d9-6258848138b3 CLINVAR:420491 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dd36b75-fef9-468d-83a6-38d69c7703bb CA346124255 biolink:associated_with_increased_likelihood_of MONDO:0010986 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 782fe77f-8087-4f3a-9137-0e59f53a9e4f CA346124255 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 756e8c1c-66ed-4970-b00f-260f73640456 CLINVAR:370279 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 25f2be00-8895-4d9d-898b-2263cf4d44bc CLINVAR:370279 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5a16bee-2824-4554-8195-a8fed1dfa9fe CLINVAR:412802 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e23cb137-1988-463c-bb0e-cbc76eafc00e CLINVAR:412802 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45d78cd6-91a9-4f14-b7cb-c9e2be8a070b CLINVAR:127676 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c3dc4dc-4775-41d4-9f18-68a9beaa924f CLINVAR:127676 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5886ec2d-6e62-4eb7-bd2a-64d7c5555dbc CLINVAR:127682 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1362a5cd-9381-4565-bf5b-6781f142eee9 CLINVAR:234695 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f7f379ee-76e5-45ce-ac42-da973f57e846 CLINVAR:234695 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f10cdadb-849e-4ac4-985b-13f234138316 CLINVAR:468719 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1157691d-d990-494a-b88d-2ed0de6dc6c2 CLINVAR:468719 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae8a5d12-b4e5-47f9-adf1-e60002315621 CLINVAR:141717 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cf13a4dc-230e-4f81-94bc-32fa52b1cbe5 CLINVAR:141717 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a9fcf24-7ee3-415f-b09e-fa1ec58644f1 CLINVAR:404144 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e2def45-9575-416b-9614-85f3e4b4a744 CLINVAR:404144 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6572a23-89f6-45df-85c1-ec8bdabcc244 CLINVAR:140783 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 387a9aec-bfaa-49bd-98f3-cca993a6cca6 CLINVAR:825730 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a8e832d4-50cb-40fe-b174-138bd27b4e9e CLINVAR:825730 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a155b48-1d6c-4c99-8189-7c0f1b829059 CLINVAR:428199 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd348d96-3dbe-4378-afea-135531e9a5d2 CLINVAR:428199 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27a1ea8e-4c9a-4339-b914-2dcef19dd956 CLINVAR:644390 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4aca4310-c6b7-47b3-ad19-8a21bfbed3bc CLINVAR:644390 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28e2f9f1-d7c2-4e3e-8cce-d7abc5e8a131 CLINVAR:224542 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 83400d69-34e5-4031-b5ad-5863e3af643e CLINVAR:224542 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f13277d-dde8-443f-b7f7-d296a6b4b2fa CLINVAR:619908 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eb7bf9e8-39d9-4c0c-bddf-6716e6bfc576 CLINVAR:619908 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e3ec878-424c-4537-94bb-6caca595dd61 CLINVAR:484605 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 889c7839-7da0-4fac-9396-8040b2730c4a CLINVAR:484605 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 772b04a5-c0f0-436a-9d34-4cb4b345787f CLINVAR:492332 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen df26d124-85c1-425f-8f3b-4f1e524e367b CLINVAR:492332 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0fc2d5a-360d-43fb-9062-c170a670c915 CLINVAR:316208 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f0a14c73-7a3b-4c05-ae97-af64c0fb08bb CLINVAR:316208 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c5706e7-f78f-4e6c-964c-3534bc50838d CLINVAR:589915 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53c0ddbf-eb36-49a1-ab3d-4f4f8cfd3ea4 CLINVAR:589915 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfb339a6-a4b8-4494-aef9-382c7447c512 CLINVAR:598112 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 00678871-a1ce-479e-9dda-fd1ea8bd8296 CLINVAR:598112 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c323e146-b595-4011-8158-e8ca20524142 CLINVAR:625953 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 730609e3-5f2e-40ca-a755-d481106233ca CLINVAR:625953 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd826083-bdc7-4376-9fd5-5defe0c63381 CLINVAR:570204 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cbab95d9-b1a1-4e45-a14b-41704122690e CLINVAR:570204 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8964aec8-8f34-4296-bac4-b33f6341afb6 CLINVAR:654184 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e29ff75d-54ab-4205-920f-3825ba12eba2 CLINVAR:654184 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a90ad09-4876-4350-87a0-7e998c619a9c CLINVAR:316210 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de38ab77-65be-46de-af67-a76f694cddeb CLINVAR:316210 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08c30551-3d61-4ec6-bc14-659d3fd8a2b3 CLINVAR:55918 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2d5ccb82-bdb4-49ba-908f-9a5b666298ad CLINVAR:55918 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d615867-104c-40b7-a3e6-b315682a4e31 CLINVAR:205617 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c4fd684f-4e2d-4d9e-b5b7-14230f83d397 CLINVAR:205617 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a81ba996-070d-4ab8-bb31-cf8dd2b52b3d CLINVAR:55919 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 26374f55-e596-418a-bde5-5a4680eff213 CLINVAR:55919 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f59b0a83-e146-4810-84e2-3e36933915da CLINVAR:7302 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3598ed2b-393d-41f9-a7e0-5e7ce2a060f1 CLINVAR:7302 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4a1a0f2-93d8-40cb-958e-8d34ff686384 CLINVAR:55921 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0c2c0b39-77f5-46e2-b0a6-b355b3955645 CLINVAR:55921 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47a23ab6-e490-4aa7-bdb3-12589df0c097 CLINVAR:21299 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e2367be6-74b6-4a7a-a6b1-1b385a73763e CLINVAR:21299 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cfba056-2f63-4cb5-8fe6-027e58a13138 CLINVAR:572733 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 340cc92b-1fa9-415b-88e6-ac0e96524d21 CLINVAR:572733 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78a28dfd-bef0-4a6c-98b5-a3fae804dd45 CLINVAR:21065 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 245c01be-fdec-4dec-a906-0b1cd464f1aa CLINVAR:21065 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 621fab81-1ff0-4533-b69e-31b2187b527e CLINVAR:205596 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23af361b-09cd-4a3d-aac9-c9840696e454 CLINVAR:205596 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bab6d12c-6550-4258-9c2a-a1bdf94d9859 CLINVAR:544252 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53648a98-1d7a-49b4-aaa0-e5d518b65fdd CLINVAR:544252 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30e9c5c4-6406-4769-93c8-e5f98c77af1c CLINVAR:205595 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cf3b9817-d18d-4dab-91a1-91478a2e2e4d CLINVAR:205595 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bd9a718-678a-4d90-b63e-95fbbf91ffdf CLINVAR:205594 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5affea2b-bb87-403a-9fd0-2781fb78b9f7 CLINVAR:205594 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abc216a5-4256-4032-ac61-2b326a6d7446 CLINVAR:445930 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d35e5b1c-0b38-467a-9cc3-936d4f448d81 CLINVAR:445930 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdf9606a-e930-4dbe-b143-3e947e973ae3 CLINVAR:205569 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 851639ce-8193-4b01-b3a1-6bf992385fde CLINVAR:205569 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bc80757-ee90-49a8-b36c-ab6dff0874e2 CLINVAR:205592 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 01a411c0-7b7a-4aa7-9ea7-ed446fa30749 CLINVAR:205592 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8028a095-23a9-4c63-8483-a9aa137d327e CLINVAR:577478 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e015bbd2-c8e6-4f83-a66a-197bfc22eb19 CLINVAR:577478 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99756dfe-0298-466b-aefe-2d89275e34d2 CLINVAR:544261 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 639b9de0-bba8-4bf0-8bbc-deccf857d551 CLINVAR:544261 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42e258ee-c24c-4531-b0f1-1ec3a4355bdb CLINVAR:205590 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fa4a5027-8950-4185-89ec-8a9c061e8444 CLINVAR:205590 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeaf0cc7-bfc9-456e-9bd2-d4891322f42e CLINVAR:205584 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b75bb647-79b0-4302-8db7-a3632a2130ae CLINVAR:205584 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1f10785-9ecd-4ffd-9164-65746b514e65 CLINVAR:431959 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6074f8c5-e8f8-46b9-90ac-54f14843803c CLINVAR:431959 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c769a54a-81e5-4010-9cc2-d85b9c028dfc CLINVAR:495685 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dd493d0d-d372-40f2-ae59-726d0294cc5c CLINVAR:495685 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5df38041-cf1d-413c-ba06-fcd4b57c4b55 CLINVAR:205581 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 001193a4-0814-43a7-9c19-f632b7e0ef21 CLINVAR:205581 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66ae4426-3d8d-4620-b424-7c7514c4d420 CLINVAR:513151 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a71752ec-243c-46b8-8ca4-269a705fd34d CLINVAR:513151 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c128a2cc-ef6f-43b7-91a1-ff29108fd308 CLINVAR:225369 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 17268095-99b5-4b91-a44a-2a9e8807e552 CLINVAR:225369 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e6963d0-cd35-4b76-aa37-8e6450320405 CLINVAR:664123 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3b60e997-7ec3-4734-a65a-0293f5436729 CLINVAR:664123 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 351a3b5a-548e-49e3-b1ea-08458437fdcb CLINVAR:205580 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 23560ace-45a6-4dc3-a7c9-0313128fdcd9 CLINVAR:205580 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f624e6be-984c-44f0-9f46-ce06ba9dc92e CLINVAR:566624 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d7a75e30-97ed-486e-8481-a78855408c28 CLINVAR:566624 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68628ca6-ecd7-469e-bd65-b7059e7645d7 CLINVAR:8302 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b294421e-468a-46a7-a60f-6c76e2de01df CLINVAR:8302 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dcd132d-3cd4-4197-a548-fc880a9f2a1b CLINVAR:21066 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a0183d39-9131-4166-b72a-f3c49d9fa2e8 CLINVAR:21066 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89f788dc-9b2e-4f35-b4a9-15cfae9c1fb3 CLINVAR:666596 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb0c2383-0ff6-4374-9a7e-6d50705d885f CLINVAR:666596 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac2f0af9-d8b5-4d97-becc-7a7c39e71706 CLINVAR:666588 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e389037c-aaa9-4ce2-9450-e1b6a7f9222a CLINVAR:666588 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba6939d9-7bdc-48eb-81a1-de3a613d74ae CLINVAR:392671 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7809fab6-497f-4914-bb02-89350678650e CLINVAR:392671 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e92126f-0b54-407c-acf4-cb4847cd0eb4 CLINVAR:533702 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f810a97b-d6a7-4c4d-bff2-33f7bd2da2a1 CLINVAR:533702 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5c12639-99c9-46cc-9852-8ca404ea0fea CLINVAR:655315 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9f88f30a-7385-4f5a-9a7a-b744846b8e10 CLINVAR:655315 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d8af0f6-d259-41c9-80cc-6557f684de8f CLINVAR:432463 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 77e22e97-e1da-4e42-8b87-4651c5b4b9b1 CLINVAR:432463 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c496fee3-1d67-49f7-ab92-275cb9576fed CLINVAR:465148 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7829fcb9-1607-4795-84b4-27cd35269744 CLINVAR:465148 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd603e66-6781-4739-be5a-b7b887f0fea1 CLINVAR:643295 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07c232dc-33f6-4541-aab5-bbdc33cec717 CLINVAR:643295 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 320ae6a7-9366-496c-becc-2ce90fb5c143 CLINVAR:650071 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ec358106-a9a7-484d-a31a-ce546345c452 CLINVAR:650071 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b48bff4-61a7-437d-96f8-0dfe484bae15 CLINVAR:572616 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f01614f2-835f-48d7-9e02-3b7da06d1b0d CLINVAR:572616 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0687d42-c4dd-477c-9943-c310b26f593c CLINVAR:410221 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 08237250-ecca-4ad1-ac5d-770e4d1b9d39 CLINVAR:410221 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e277375-7cad-40df-bbe0-563b3e2106c1 CLINVAR:658337 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d472b8e5-a8cd-45a7-b391-e1fb9ad584ab CLINVAR:658337 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aca77135-2054-4438-af7c-dd5909ec6aae CLINVAR:21448 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6d3ea0eb-f645-400a-8aae-1e1ec2ad1e19 CLINVAR:21448 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78c53633-5e73-488e-9013-39e8e31272b9 CLINVAR:652028 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aea6cd9d-4fa6-4227-b42d-293b60c0f2ed CLINVAR:652028 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc2ed768-053d-40ab-9810-b8dab31966eb CLINVAR:449366 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fffcb1ec-7f7f-4e56-8297-d891c1fec9ed CLINVAR:449366 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a27399a-0f54-43bc-bd7e-6bc43732e402 CLINVAR:635461 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5020ff44-453e-4b82-9cc6-d41be4313514 CLINVAR:635461 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6027feec-01bf-4a7f-93bc-19796721f02f CLINVAR:452407 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 81fc520b-5b7c-4079-8783-60c8c84b34e1 CLINVAR:452407 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7eda3e20-cfd5-4c99-bb10-25f1ef73b7c5 CLINVAR:416002 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e169da09-4aa0-42af-af65-378b400742b4 CLINVAR:416002 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80a50223-f805-489f-9d74-058499579b7f CLINVAR:633583 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5d53ae19-91f1-4b41-8095-2732824b4610 CLINVAR:633583 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62e3942c-de9e-4532-b09c-1e7974e5e874 CLINVAR:586615 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 16e40c54-6ae5-41b6-b021-9974680e318b CLINVAR:586615 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a940c87-96f1-442c-a3fb-1f6d18548570 CLINVAR:21017 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dd97a073-928b-49ec-8d06-0d22f6932654 CLINVAR:21017 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1754260-b1d1-47d2-b2f7-19880d362065 CLINVAR:92276 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5acf7551-7778-455d-9880-9eda705a927b CLINVAR:92276 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dd02636-13da-4b2b-a059-60dbf57dd235 CA414802316 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 326e6e34-8ced-4bf7-93f0-e01d975a838c CLINVAR:9632 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen edc47118-89f2-4a4a-af0f-2798e72800bd CLINVAR:9606 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 389d4512-4e2e-4bd7-9d12-b326836794ac CLINVAR:9606 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c598f29a-da12-4d3c-ac24-f89e5fffd6d9 CLINVAR:689875 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4766b8ce-d03b-4c80-93e6-5f77971cc058 CLINVAR:689875 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e5f555f-a18f-478d-bb41-b8c285f4ff4b CLINVAR:9556 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e3dbd19c-0710-45ad-bbd9-46d9cc84de04 CLINVAR:9556 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e35f86f3-485d-42b2-8482-916d919ff64b CLINVAR:223247 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bbcadca5-1a00-429e-a915-d5576b45c2e0 CLINVAR:223247 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cc96cc8-1724-4fe3-b45c-2bfef200e18e CLINVAR:9707 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5d51823e-bbe1-492d-9af0-c1997e791a46 CLINVAR:9707 biolink:is_sequence_variant_of HGNC:7460 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19420fe4-f993-44c8-9621-83edadcbce69 CLINVAR:9591 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bca62c5e-da03-4e36-9083-3425509e6325 CLINVAR:9591 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a347c53-8091-44bf-ac1a-dcbae93f7919 CLINVAR:102551 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen de807064-bf11-4b43-96de-e0106cb28c9b CLINVAR:102551 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 709edf89-afea-4add-87bb-47f911f27713 CLINVAR:102652 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bff37763-8e53-4cf9-a3b4-9528a4d23546 CLINVAR:102652 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3afc8ae3-10ac-4e67-bda0-552e1cf783dc CLINVAR:102663 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 40ed4458-b360-47de-b270-f109d3e5c34a CLINVAR:102663 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e44c70c9-619e-45b6-a81b-347e76ecbf41 CA16020977 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c2c31e42-1960-460b-8f79-fac4aa88722c CA16020977 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39c6af3d-6da4-4949-b9cf-ece5c7a473cf CLINVAR:102718 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b9c67132-e82a-467d-afb3-0f1146f7231b CLINVAR:102718 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 589d2aba-2560-4470-b602-ebaecdb7ee63 CLINVAR:102664 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 878ef974-e1f7-48f2-8505-dd32ce79bfad CLINVAR:102664 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10581dc0-6c62-465c-8271-9965f8d469eb CA386493311 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 015e7a15-3798-479b-9412-0d4ce415c9fb CA386493311 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa8cd1e6-bcfe-49d0-8461-b496b7822e4d CLINVAR:657348 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e87941e0-7196-41c6-adab-8cfaed54d5e6 CLINVAR:657348 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85407924-9cc2-41ae-9a56-2f8b62021937 CLINVAR:431990 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a3bdd43-f0e1-49b7-a7f8-24b6ee2f6094 CLINVAR:431990 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9f8281e-d34f-452d-9499-3533661cb2a1 CLINVAR:92483 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 29ae8075-54a2-4a7d-b141-4fbfbf556633 CLINVAR:92483 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30f14090-e332-4f88-8288-2a51d12b585e CLINVAR:498117 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f81c4647-cfb3-4dee-bada-7bd0f246ac12 CLINVAR:498117 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20705b34-5ef4-45db-ac53-b4ad79aef05a CLINVAR:370130 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2ef60ea2-c079-4a2f-ac28-bf5841ba77df CLINVAR:370130 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 565181f8-c8cd-4f2c-81a0-4bfc578384a0 CLINVAR:933090 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b87ce80a-9ba4-43af-b5de-a7df31d89a6a CLINVAR:933090 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00eff0dd-7386-4b7b-9170-46ae52efbf7e CLINVAR:690461 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aac6c8bb-7507-4ab6-a52e-ef297d25e00b CLINVAR:690461 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b21fba9-8732-4049-aa8d-1fb09c2562e5 CA2573320260 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3fc2eb9d-5d0c-4cc8-9d47-3840f33a8fff CA2573320260 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08701b3b-09e1-4622-9811-d451c3cf96db CLINVAR:479636 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e22c60f5-8c8d-43d9-b9ab-0f12e8ddba2c CLINVAR:479636 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf1eb562-09cb-4c65-932a-fcf13d41fa57 CLINVAR:429125 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 443e31ad-19fc-4f7c-b5bb-bd0b3b81f1e8 CLINVAR:429125 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6435a07e-2feb-4997-80e4-403dea5662d0 CLINVAR:824918 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 88ef7bb0-fb12-4885-a02c-73c34acb19a7 CLINVAR:824918 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 714e1a99-f653-43e7-b652-badb3fd2ef8f CA390867498 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7530d0f9-b031-4066-b2e2-4811b25e5d43 CA390867498 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39a0f9a1-56e4-447f-a034-1ba4a429043a CA390867511 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9c21d407-a390-44ff-8415-98180cc119e0 CA390867511 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5da7337-f7f8-407c-97ca-948712c0a005 CLINVAR:825925 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 26b5378c-4aae-404f-94ce-9fe5e1055c28 CLINVAR:825925 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a600a0be-5b7b-4956-afa7-4a3f25466119 CLINVAR:653922 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5be7eb63-d041-4b4c-9d26-3451e0573464 CLINVAR:653922 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 913e6f19-1e34-4b80-a07a-0ce86de5ad17 CLINVAR:933126 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad717871-6272-4e7b-9f6a-2f6c810f1bd4 CLINVAR:933126 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 182850d3-c21c-497d-a77b-917ead8daac6 CLINVAR:825934 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 103a868a-443d-4efb-ba4b-f70edc9afb6d CLINVAR:825934 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41a56800-1866-479a-80b5-63e15bf70814 CA343719476 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e567df26-f84a-44d1-8efa-765f2727d4b9 CA343719476 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16895271-98c1-47bd-8361-203eda2108d8 CA343727103 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6ccbd77c-b375-4bff-b1ca-baa38e692932 CA343727103 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82ece714-9400-4b49-8382-ba12766eae2b CA1244333 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d3273646-0d32-42ba-a311-6f5dc869acc1 CA1244333 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e50e272d-10c5-475e-96b1-72954a565ece CA1139770939 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dbddd64f-5452-4a8d-bcea-a170409e1f1d CA1139770939 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20f5d9f4-9697-4bf6-8e71-0b535aa9440d CA32686006 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f76b1856-65ff-4d46-8472-3ab9c2d8c6aa CA32686006 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9f2b664-f4e4-4eff-8bcf-4124b82c6b30 CA1244122 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 99016040-785c-4a6c-a4bf-833a107de3e6 CA1244122 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c490ea6-6adb-4331-bdc1-92122d3cf620 CA1244196 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b095eefd-6ddd-4a97-9509-0d18c0ec2adc CA1244196 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ee474da-fd0a-4d33-9e70-bd6281863d9f CA343718087 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0ffd4fd4-6457-4399-85ba-9999bc418270 CA343718087 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b035f82-229f-4652-b9a8-96528244c461 CA343725043 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 858efc3d-1d1e-403a-a173-6dc3b094084f CA343725043 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a9c94ae-fe04-4180-b7a8-f74867e23c61 CA343724711 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 845cef9e-1fc0-4ae5-aacf-fa0ba6d0ec8c CA343724711 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50183e3e-b25c-4d92-9c61-edbf8520bbfc CA32685671 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f7ffee20-e3fa-492d-a3cd-a95f9cf5eeb1 CA32685671 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cc7be3b-51a8-4e42-8887-d88ec2519df7 CLINVAR:4036 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3825730c-0209-465b-9a07-c432e36eea68 CLINVAR:4036 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26d9b46b-8331-4d2c-96bb-313515446f47 CLINVAR:550327 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6f78d83b-3aaa-49e9-9f98-dbd347b8dd59 CLINVAR:550327 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1451aa76-a3c2-4c4e-a0c3-8f3249e45ae6 CLINVAR:526518 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 50e3aa0e-cc45-44cd-8850-9557f7c986c5 CLINVAR:526518 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a72ed4b0-9f0c-4c0b-b6e3-79658636fb19 CLINVAR:289361 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f7cd01e4-4a9a-4099-a989-f89207be2aff CLINVAR:289361 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea7c514b-fc7c-405e-9d67-2a8344882808 CA915940949 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e32bb3c-b513-41a1-9c54-a94391ed89bc CA915940949 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a086d358-2403-4e2b-9359-3dc6f9410a06 CLINVAR:200100 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0f44d6a9-87e0-4121-8c3a-007debcb798d CLINVAR:200100 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b4bd61e-fd5c-4338-8307-3cbb704a4925 CA392317923 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fd51c8be-7116-43c6-a0d4-4e0933dd2ac6 CA392317923 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04c2ed0b-cf3b-418a-a019-c96d62eca315 CLINVAR:200041 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e5233f3d-cfb0-4d51-9848-daaf45a0bab3 CLINVAR:200041 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8be2e928-3c69-451e-aabb-f685bf5f0055 CLINVAR:1325453 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4e809a8f-4686-4020-909d-16ecfc129a77 CLINVAR:1325453 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35d86f8b-1256-4e40-b523-ee6b93d2fa19 CA392325153 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a7534c5b-b5f2-4bc2-b3a1-dda2352be096 CA392325153 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29784d72-ca51-4bec-8541-b7ed9dba594c CLINVAR:549232 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6700f611-4916-4475-9dcb-24a114e88fa8 CLINVAR:549232 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21bb8d84-467a-45bc-9fe0-f36c5e2998c6 CA915940948 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f790ea85-0fb8-400b-841d-3e6f0df6a2f0 CA915940948 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75e17218-1275-4aad-8401-f7d8b02ab39f CLINVAR:161245 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen da35eea8-e430-4658-be97-d5937bc155c8 CLINVAR:161245 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da86add5-7531-4bb4-a6d3-7bc92a0b1566 CLINVAR:549394 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 14c3ca42-ae27-41f6-8fec-102d0adbf178 CLINVAR:549394 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ff72f08-9441-4917-b155-c2ad0bc38563 CLINVAR:200064 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8bb655c2-0e29-4567-9034-e23e371382ba CLINVAR:200064 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e0bd078-4769-4bf8-b1b8-de8d98ad0f1d CLINVAR:143490 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 775096d0-7f80-449e-b4b1-7d1ed184e5b3 CLINVAR:143490 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c12a9669-0926-4b71-9160-ef9f3d8f5251 CLINVAR:143549 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a31e47d1-5aab-4527-8c28-f7e17eab39a6 CLINVAR:143549 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6518d606-afa3-44c7-9289-3c9f99ab1d15 CLINVAR:143550 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 55dbfe1b-a879-4a18-8e37-b17591517e49 CLINVAR:143550 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c320e4a4-8afa-44b8-86d8-82d5b99b80ed CLINVAR:143560 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 39cb2f34-9e13-4dc4-862d-6f56168c96cb CLINVAR:143560 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f0a904a-bbaf-422d-bf50-bea80b4be1da CLINVAR:143585 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6aa38446-ed42-4cfc-819c-a40fabf58906 CLINVAR:143585 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07a0c975-618b-4fb0-a413-c68117492058 CLINVAR:143589 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 325e77ff-3b08-4fb2-8351-6a1e8a798214 CLINVAR:143589 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a04dab1-3216-4352-9fc7-eaae017cd8e3 CLINVAR:143742 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e3ac95d7-591e-4afc-bc17-265e81ba6b63 CLINVAR:143742 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f6ae8b3-6e43-44f3-ab69-d232f536c57a CLINVAR:143340 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 617a9f9d-a164-4146-838a-34671b00b730 CLINVAR:143340 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2630d956-0606-4b0f-8068-7380e331012e CLINVAR:143450 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2be7e2ba-2490-4842-a6a0-02db71eb3dd8 CLINVAR:143450 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4f57166-f1fb-49d2-95a5-1efc0b7d4c1d CLINVAR:143656 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48cec605-c9d0-4845-b0c6-b97655613910 CLINVAR:143656 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51f845aa-14f9-4f5e-a1a0-794fabf18e4f CLINVAR:189732 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 30bede1d-65fc-4001-a934-74a353ef8397 CLINVAR:189732 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b373a18-62a6-4176-9531-fa1715eb8df7 CLINVAR:189754 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a444e4b3-c012-42c1-96e7-579d86b201d2 CLINVAR:189754 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6982e8be-2264-45c6-8ea6-44215aa8d431 CA399802454 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 811f73ed-99dd-4393-bfcb-2ea06e6afa3f CA399802454 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04f423a9-ef26-4c2b-b729-57fc3ef51227 CA915940214 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 18bcc4f8-7b7a-4b6b-9513-f8be7c913178 CA915940214 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6c61bee-11e2-43bd-a2ab-54b280499105 CLINVAR:1684418 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 494c168e-bc1c-432b-ae74-71edfdba318a CLINVAR:1684418 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d75dd807-7c69-4aeb-8eb7-646ac5e5f13e CA915940264 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c83b1c58-b05a-441f-94aa-53a68cf1130f CA915940264 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1406e34a-8dac-44ff-b9dc-c888bccd9ef5 CA915940225 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 99beed9e-ac98-4371-948e-41fb8cc8547d CA915940225 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 729049df-9e03-4737-8189-12a312b45604 CA915940263 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b5de6681-665d-4b0b-9eae-6fe999bfac7b CA915940263 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbd71928-5d94-4435-abe2-55c215be7a2e CA400021997 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b42c6d75-2cb8-4ec4-b938-623a65001065 CA400021997 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccae0e28-fc66-4d1a-b80b-0467e28e97cf CA399805008 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed89d614-f745-415d-b8a2-b981caae127e CA399805008 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53c9d555-9aba-4a44-a5b5-f4a641c6d9e2 CA400028386 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a2e01ce2-37a5-48d8-a507-eb48479a4f7c CA400028386 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c80166a2-dd97-4f38-b73b-be93d8bb10be CA8603099 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 44afae58-9c37-4af3-a98d-6d793e69aae3 CA8603099 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1adea47-bea1-4dd8-85a1-46ec908135ef CLINVAR:13563 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4d5703ef-fb36-4ee1-ab7a-b9049573f2d2 CLINVAR:13563 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 601e57c1-a478-4b55-9057-03fe5c4b8869 CA915940805 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 242ad5fb-e792-463a-adad-487a92eb5397 CA915940805 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 344051f0-4a5c-46fe-8df0-2f7fec843812 CA915940766 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen afaa47f3-af72-4488-ae57-68faeadf11ce CA915940766 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87edf7b2-5214-436b-9741-b7819cb0acf4 CA915940767 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ff9c3e1d-61d8-42e7-a92c-21eb0352fc76 CA915940767 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc20d45c-7786-49b3-a9c2-669b5b4f3c8f CA399804480 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5ac428b9-7adf-4b34-805e-8c6ae690a4a4 CA399804480 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c8c9024-c339-4f3f-a348-aeb0c119c9d4 CA915940267 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6938682e-bff0-4de1-bfb3-b662d8b5da55 CA915940267 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b113714c-749d-4b20-9b55-ea541a7b83ec CA399798192 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen edbe5f94-c013-48f9-9a99-3213d3553621 CA399798192 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fe4e595-dbf2-41c5-85b8-d6dcc931b714 CA399807023 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 24e4b7db-3514-498c-8b25-808523275ddb CA399807023 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a0f5729-d7f8-4460-9fa9-216bf9bb9ada CA291225782 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 01889b21-a201-4603-a26a-bce813f67383 CA291225782 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ece6a3f3-1d18-4e60-ac40-3c8f2e315b53 CA915940325 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 54e0cf45-0dde-4ed5-bf40-0bfed0ef0630 CA915940325 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9310b195-026d-41bc-9272-f84e9cd5e441 CA291224896 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ebce1ce7-c030-4c49-9c15-85083b5ee91d CA291224896 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a2723a3-2e18-4bf6-a376-9a9784144666 CA291227621 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b0b9dee0-865b-4c44-a707-2efb68689175 CA291227621 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d988f5c-a2db-49fb-8cd0-9f51183803ef CA400031679 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ab446605-d667-429f-b06d-7220a74fa850 CA400031679 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c29680e-d1f6-4750-9366-d456879871b0 CA915940322 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1261a383-4d14-4ef0-b134-0640c4d2ec79 CA915940322 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8c49c03-66f8-4d71-a204-60664cd8a537 CA399806223 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 981f4a00-6139-4a23-b2aa-36ad0dfef89f CA399806223 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f4bffe1-60f4-4451-b755-f6cc193069fe CLINVAR:1879046 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba29084f-5210-454b-ac7c-53a59a9e6a2e CLINVAR:1879046 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e97ee6cd-c666-401e-855a-1f15fa4db21d CLINVAR:1879048 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 10849f74-c949-416a-8019-ebde7eb76dfb CLINVAR:1879048 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da042a3d-bc41-46a9-8716-7fdcda248dc1 CA400031593 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6e4a2394-e01f-49fc-885f-51c3ba4af1ab CA400031593 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72a6b9a7-ee09-4550-bb49-402a37c4bd0c CA399787972 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e9d98031-b1c3-4885-a164-c6c3434e98dc CA399787972 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ac74008-7c5e-4618-a6fa-72bf60435edf CA915940334 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 55b759bf-db78-4dfc-80c5-1dfee7c878c2 CA915940334 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 571135c0-0830-4762-98e6-8001c8406d9e CA915940374 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4782074b-183f-4a1f-9bba-8b765f932171 CA915940374 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 974cea6c-aba8-4f29-868b-c4bc505c23c0 CA290950094 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c23e8442-d20a-4e04-9f0a-b320cb825f8b CA290950094 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9de36055-edb4-4fa2-8792-1daec2183c67 CLINVAR:627151 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab3f0582-8c04-4c3a-809a-d9c11dee7667 CLINVAR:627151 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12ce3635-7c74-4423-9984-7fcb78b7be7a CA8603454 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 628dec2f-e0db-4dc7-865e-eb96c460b38d CA8603454 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0396776-ee24-4008-b81b-a02ea803d6bd CA400029961 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 08c43d73-fe09-4b4c-a991-2241c1c98366 CA400029961 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97163f8a-c5ab-45f2-9049-42e941e3f115 CLINVAR:977126 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c25d8a38-ba2e-40d7-9930-859cabf3d62a CLINVAR:977126 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdde846f-3b28-4d29-b1ac-a9ec1fa6178f CA915940788 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5e9d8c6-adb1-4192-8748-74a7f2d7560a CA915940788 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19199458-c2e8-4045-a2c7-896f65c5b010 CA399807046 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e0da4b27-933f-4377-86b5-b7e249415886 CA399807046 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ff41b2f-d7db-4fac-b6c3-04fd25d3a2b4 CA8603212 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab5bcf11-a6d6-491c-a67a-371a5579b7f1 CA8603212 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 134a96e3-a23a-493f-9fcf-ab3122ea1c79 CA915940720 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 22bbd499-9d7f-44fa-a46b-608cb0e44c7d CA915940720 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6eaed3a-222c-486f-9010-08b4b4f77370 CLINVAR:977131 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ee4c08ca-c824-4712-92b2-aa4fc15c4248 CLINVAR:977131 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3500ddc-c930-4431-bdf2-dcb8bf09d7ae CA400031690 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 37e6b2f9-4099-4d2d-81ed-cc1052ca84cf CA400031690 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 184814e9-2029-4691-94b6-ed30e091c23c CA2573131753 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f93e175c-3dc6-46cd-b980-adc04be50208 CA2573131753 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e510315-52d8-4dc7-84ec-c24e26e13af3 CA400029341 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c32230d6-adce-4d42-84ef-4240b984ed49 CA400029341 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aff28a3b-adcb-45ac-8051-a02598026585 CA399804316 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a7434716-7c4d-4c38-ad00-4c98e1b913a9 CA399804316 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c2c8fcf-2a68-42b2-9d0e-e2426fd1375f CA2573131754 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d9c7cc5f-fc6d-4c17-8dca-39efaca23402 CA2573131754 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fb20d75-bc8a-4473-ab0e-3e9a5d4de7c4 CA8603039 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce89de97-6c5c-4754-80a8-fc3937f39ad7 CA8603039 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8638df13-e739-47d6-a474-ced0bac2aa79 CA400032927 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71c1c8c5-fff7-4ea5-962f-5c50532e72a9 CA400032927 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e06a568-fb7a-44a5-ab48-ab5c302b6a43 CA915940806 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0c860283-0d8a-4708-b73b-83a26a053db9 CA915940806 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6a5969a-1faa-4c56-9210-20c7ace2ef97 CA915940801 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9de785fe-6b68-4aba-9dd3-0312d1fe6e01 CA915940801 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16c90294-ba84-4dfa-a91b-fab082450e3f CA399791378 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 974c2cd8-cabc-4dbc-95cd-5a8bdf560e48 CA399791378 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18721df1-5929-4d69-87e3-2013936bd17e CA399804787 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f889c8a2-1c1e-44cd-9561-3fafd2085ee0 CA399804787 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35e3129a-d649-407b-8337-3526f30b4679 CLINVAR:891157 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b50446f-0be9-44a5-9403-1e9c2ad5bba0 CLINVAR:891157 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49ef1e4f-ff59-4e03-9ba4-7b4e63322ca2 CA915940222 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8a7b4aa6-bb2b-449e-9b2d-e27b4a0d1f09 CA915940222 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29f1108b-f40c-40ae-a0dd-d6a90340031e CA8623068 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6b36ddf4-f921-4273-a715-716237b8370c CA8623068 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cea1ff4-ba3f-4469-bdb8-1b13692226c4 CA8602667 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8c04c16a-cc88-4223-863b-787fe442ba74 CA8602667 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79c49871-84dd-48fe-b093-dc998c8c5d5a CA399802478 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2b68c25c-fb06-4802-a5f2-a09532ec3f5f CA399802478 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2504e3e6-b3a1-44da-ad2c-f8041a24f5f3 CA399794666 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 39526138-512c-46fa-9342-7a8f9705485b CA399794666 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd53c027-6393-4ee8-a87a-afca3e43f8d3 CA399805465 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f2d4b5e-217b-4931-a9fd-73f9a6cdafd4 CA399805465 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 285c7f29-e7ac-458b-80e7-907bb8cc831b CA399805884 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 177a84d8-d954-4a97-b5a5-3de6822ce903 CA399805884 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12c712be-b002-4876-9a97-f87be7aefa2e CA400024958 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 49d8eb16-7f41-4d61-92e3-0e364407ca36 CA400024958 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5da16735-ad2e-477d-bd5c-5a5b95f173a4 CA399806951 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7cb8ed8c-ad39-4adb-a8d3-a0626df4b280 CA399806951 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63a67102-41c0-452a-8397-e1562ab54716 CA915940223 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 527aebef-4d40-4032-bb4b-7c41e59acf49 CA915940223 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3245a1d-7f22-4f1b-9327-d6e32ef67ec1 CA399792888 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 37e00676-5dee-4275-a557-8e1319b936f5 CA399792888 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c659e2b2-1616-4ee1-82a4-08b8e0c0bad4 CA400028645 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 90f04a25-b4a0-49c9-ad16-77f7bb33c214 CA400028645 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b5f444a-d33a-4171-b79d-f5d8cb9f338f CA399802559 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eab26fda-b733-402a-a4cc-7252fd639fc4 CA399802559 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bffa553-d9e0-4687-a418-c8cd2f5919f7 CLINVAR:100811 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen edcf49d3-ede2-4fe7-a5db-fe127ad6b49b CLINVAR:100811 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ba8e14b-e1ac-4308-8823-2abb54376e4e CA400029664 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0d87ab3e-bdff-48ab-9be1-d1902e52f71d CA400029664 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5d45cdb-42a7-44ad-ae63-7e304af3ff8d CA8622982 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c9c8f637-c392-46f6-b209-142316645b21 CA8622982 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 459a33ae-c072-4446-b2c1-1770144abf40 CLINVAR:225919 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2525e47f-438e-4004-a7e0-908352137217 CLINVAR:225919 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63c283da-a9c8-40d3-baeb-1d477a5456bb CA6748745 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5f62a4a8-5b22-48b0-b5fa-570db86f556e CA6748745 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad85b7b4-89d0-4a4b-a358-f233d4afaa66 CA386299735 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9d60952a-b5c4-4b2c-87b8-c41e7abb355f CA386299735 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0964b9a-b0a6-4e85-9a9e-5c229e11a97d CA386297078 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 179d4645-6d77-4e0b-b6ca-834a2ca739fa CA386297078 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1e49ef8-3ae9-4bc3-bedc-1caa35a7dde1 CA386492906 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ffb538b7-dd07-4433-a6c8-a7ff2d0f6d19 CA386492906 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b4228a6-206e-4191-9b80-c36889419477 CA16020960 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 37b5be53-a72f-4038-856d-87e000783f64 CA16020960 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71102d4a-9e17-4d9e-9d1d-9ec399335ae6 CLINVAR:102564 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a820f951-9917-45b2-a26e-b1bbfd4b501f CLINVAR:102564 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 471a48fb-e076-4689-ab61-109232d3b276 CLINVAR:102653 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0f2200fa-23ed-4642-8f79-aae603c6dce0 CLINVAR:102653 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4738aebd-7597-4c73-ba4f-2180d573a63c CLINVAR:102574 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 68dc7af0-a5ca-4e02-a325-83d1d0597c38 CLINVAR:102574 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d01fdea5-93c2-4c21-b1f2-7e7c446b9e8f CA481331323 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen be28402a-f24f-4c52-bb63-9854d73db172 CA481331323 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 532d31ba-6422-4397-92a1-4770f41ae351 CLINVAR:102603 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3f92e67e-3630-4d8e-99f1-aa1c02cab33e CLINVAR:102603 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cd0afe3-6b81-4d7b-8212-926e5fd85acb CLINVAR:102730 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7caab188-4035-47d1-8284-83651522bcd5 CLINVAR:102730 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7154c37-10ce-40bd-a932-818618142704 CLINVAR:417917 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7d615d70-cac2-481a-a683-5d3560cf29f2 CLINVAR:417917 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ff4011e-1565-4b38-83de-bc204179f627 CLINVAR:854401 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 336a9752-2e50-44d2-a42d-6d4706abc596 CLINVAR:854401 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cd1d396-97b4-4d77-8357-44209282ca07 CLINVAR:474895 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff8089b7-c733-4833-81b5-972cd0bcb72b CLINVAR:474895 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d4e51b5-2f5b-43bf-92e9-6d1c87895979 CLINVAR:971356 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f6a5afa7-09c6-4224-8e05-97a4c0630039 CLINVAR:971356 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 374d947f-7a54-435b-bb75-01bf3486531b CLINVAR:555644 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 72f07cda-0c3b-485c-962a-d3897c59be25 CLINVAR:555644 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 249e191a-ac10-4205-abf1-0e2c933fd605 CLINVAR:661308 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1f90a3c4-745e-498c-990f-e19b10e1211e CLINVAR:661308 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86326f55-c7f3-47de-b142-25d9e2670990 CLINVAR:1632 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9d4859ed-6a1c-49b6-9005-cd21fa95ea74 CLINVAR:1632 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b679475-4565-491c-87b8-b871716991ad CLINVAR:203592 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e762232a-525b-4f89-8c29-28ffb9992b38 CLINVAR:203592 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3471e2e-3bd9-4daf-bdae-b647a98a541c CLINVAR:839947 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 39b2ddfc-e1b8-4eec-b783-dc67e03519dc CLINVAR:839947 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5684e300-e4ae-4ef2-8ac5-9912fcb27baa CLINVAR:92290 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen edb4d43c-0ade-4e38-bbdb-11f9657a5d89 CLINVAR:92290 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7b6ad5b-cfd6-40c6-ba9f-ac38c6d78e7d CLINVAR:21016 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d0940678-49dc-4a48-aeaf-1af32e983b24 CLINVAR:21016 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27510df4-9581-4933-bd86-3ee6dd5276e9 CLINVAR:1634 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 82deec36-3809-45e9-a4df-61f0978c5bfa CLINVAR:1634 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 626c6982-e645-4af7-9ce6-c9a1d1d3f701 CLINVAR:21019 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 67670d50-d679-4677-9a06-f65ce833105f CLINVAR:21019 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcb01059-b2fe-4919-b699-225d9112e56a CA1139532270 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 60211b3e-1441-455b-8946-48de5683bc7b CA1139532270 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3133a02e-d04b-4524-8ad0-e486ed5d62c9 CLINVAR:166641 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fc2fcfa9-5296-44e8-8503-4ef5bd3cdced CLINVAR:166641 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98ea4f32-fa80-4da2-918b-327ac8c4a541 CLINVAR:807359 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ad108116-7a3f-4a54-ae11-695a05d2d6b0 CLINVAR:807359 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ab94b99-4967-4b39-804a-d945d7f27016 CLINVAR:370717 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 08b10301-d6c6-46db-bd77-0063f7bb8780 CLINVAR:370717 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82f6a941-557b-4194-b4aa-81576ba70cca CLINVAR:581080 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 58769372-cb74-4563-8058-027e28ad30b7 CLINVAR:581080 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c78e3479-3a53-490c-926e-c667b561141f CLINVAR:92283 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e169f350-f475-4e76-bf8a-9cb61e23544c CLINVAR:92283 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7499c10-8553-405a-b061-f6329214d1e9 CA916084367 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b5655058-7dd0-49ea-92f5-721ee6c990d6 CA916084367 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c114d38-fb0e-46e2-ba07-bfc3c2a3f5bb CLINVAR:370770 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 81f77493-9176-4125-afe7-1d1f66431c5f CLINVAR:370770 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e698c33c-a14d-4451-968a-fa4f0bb89bad CLINVAR:166646 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 907abc52-f785-4abc-a9af-199e8ee916a7 CLINVAR:166646 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36b9d19d-6f0d-4f2b-96c7-87c3ee391f19 CLINVAR:932835 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b856094e-3650-4ea8-b686-9e147fbdfedd CLINVAR:932835 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55d2272a-b714-4e16-8285-23f032f7a857 CLINVAR:557136 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 414bc022-576e-41a1-8359-5ae7c1f5eca6 CLINVAR:557136 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44c5c66b-d256-4faf-8772-dfe60b3e3ed6 CLINVAR:418698 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 801378eb-a043-4ab2-b281-055e1aa611e3 CLINVAR:418698 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 250f0d34-6faa-4177-988d-ba7a0505ada6 CLINVAR:1075156 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8b4c5635-5b4f-4e30-a5c9-21d49907c576 CLINVAR:1075156 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1ecb24a-0522-4629-b3f5-021675608bdd CLINVAR:1622 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 089f9e3d-eec0-456d-b304-5048978b631f CLINVAR:1622 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74912108-6980-41e2-9794-6bde78db7ecc CLINVAR:932851 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4efed00f-d15b-4287-932e-fecf240d0b2d CLINVAR:932851 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e29abe3b-c4ac-4df7-a1a8-f3124ce44b2d CLINVAR:810875 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8428ab50-9d88-475c-8b7d-42398c5733fe CLINVAR:810875 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a1c1c1c-cf0c-43fc-8e9d-65d508aa1731 CLINVAR:812785 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7422815f-0205-46a7-935f-b8d318ca4f8c CLINVAR:812785 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f690e2ea-40b2-4462-9b35-c18e7a02c065 CLINVAR:203595 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 061c6e49-02f1-4bab-bcbf-d94f31587f59 CLINVAR:203595 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 857f76c7-0f5f-4310-a8c0-26cef85dd35f CLINVAR:932788 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15a56c8a-f920-4bc6-84c6-7e09f97b3407 CLINVAR:932788 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79841e35-9583-498b-a4b6-86bb0f9d5ae8 CLINVAR:439361 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 301a9abd-6aa2-47c9-8850-fa530ddce40f CLINVAR:439361 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e40ec0a4-375d-4aa8-9b13-45145f24e852 CLINVAR:1073505 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1e52f678-b997-4801-a518-9c295594cd67 CLINVAR:1073505 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9135c0c6-a554-478f-bf2d-ab7df2a5ea56 CLINVAR:876022 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f49eb255-8e77-4d36-8f3e-3f8f1e841639 CLINVAR:876022 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 231042b7-b22a-4e77-a7e8-317f35bf866b CA1244128 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3faa38a0-3eb8-40e0-b155-46d2266cacb5 CA1244128 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0b7aec3-c135-4d10-a11e-aef737a2491e CA1244127 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f09f0244-0876-4884-9100-f6a5ff88cf74 CA1244127 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 004850ca-e07c-40cc-9989-03fb402abb94 CA343718468 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 490874dc-42e9-42ab-a6b1-1f1e4f112821 CA343718468 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1573537-5df6-461d-a179-dd9e74f52f95 CA343724789 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a58671b6-94ab-425f-8465-b1b34e7dd03e CA343724789 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b877467-6210-4daa-8ed0-4d379b3f9aac CLINVAR:1306862 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f582b235-d778-4971-95bb-342dbcbba4ea CLINVAR:1306862 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df16c2a0-9ec0-4f62-bb08-d61eeaaa0bd7 CA343723649 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6756bd06-6317-45bc-8972-fa8a9add984c CA343723649 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c44cc35a-6a29-4dd0-b459-394810bee61e CA343723635 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc28b420-8a88-456e-a33c-797de36f9447 CA343723635 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d738f1bd-0a67-4c50-b74c-d527ef3d5aa8 CA343723062 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07e099ce-cbf6-478d-abd9-a23c98a0a1d2 CA343723062 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22570538-3c12-460e-8467-9cbacd383fa5 CA343726243 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b51f6d31-4f08-4edf-82d4-1162336c5c6e CA343726243 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 474375bf-d777-4279-83f1-872365cb0408 CLINVAR:1684936 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3fa0b634-e7ba-46e1-83ee-dcb3e2b43502 CLINVAR:1684936 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af10798e-601e-42dc-8a64-6f148caed94d CA32686185 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8c843cf-c91b-4273-a9de-f3bb7c6bd5ea CA32686185 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a154e51-e8d8-4ab9-a7c8-b7be69381a51 CA1244138 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a16567c-8774-40b5-85db-37b491165c6d CA1244138 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df60a66b-e78e-488c-b379-d4eace3ce5dc CA421938611 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0f7d12b3-4205-4b6e-b2cd-48a970145093 CA421938611 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4911355-8d93-46b1-8a4f-b4aae0356188 CA1244109 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d6540e26-be6a-4e9c-82ff-103175f3394c CA1244109 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79448d35-6776-442f-9a97-062586bcbf0a CA343724974 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 688bbbe8-615d-4091-8ede-67c28f7f5826 CA343724974 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4559baff-4f8a-44cc-89b4-732dd26ca282 CLINVAR:7957 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 43d43e3b-60df-4115-9b5a-95e167e10df0 CLINVAR:7957 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9be0d2ea-82c8-4dee-bf3e-a834830fb5e9 CA1244062 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd7552ec-f545-4cae-8255-73c182788a37 CA1244062 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c084c92-176d-41ad-908e-605e2b803827 CLINVAR:1073342 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9da36c15-a556-495c-a501-128f6d179497 CLINVAR:1073342 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dadddfb-9a50-4a1c-9603-89e0d7d29336 CLINVAR:1628 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 15428a3f-b255-4e08-8344-9c505f238136 CLINVAR:1628 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4676a7c4-ff19-4b15-bca3-e26de00fa75a CLINVAR:818026 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac51a871-c821-4167-999d-0d06a91328a8 CLINVAR:818026 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07f0f50c-9b2f-4429-b145-fdf30fec605c CLINVAR:936835 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6840bff3-b48b-4773-bb85-4707f4373dec CLINVAR:936835 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b866fa28-33f8-4dfe-9b50-415828662116 CLINVAR:557078 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3102aee1-4538-438b-a38c-ccee369a408c CLINVAR:557078 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a043aae7-354a-40f6-8316-77a1ee60daa7 CLINVAR:550315 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a82dbcd9-c486-42c8-9fdd-6254de41308f CLINVAR:550315 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaefd0d9-185a-4978-9ad9-3c1f95da1462 CLINVAR:380058 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 94f5437c-fb23-4851-9cb4-c10451ac2336 CLINVAR:380058 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7203c17-5c4e-429f-83b0-3d033465edb4 CLINVAR:516249 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 645b6a51-1282-454b-a154-e803cf70f5bc CLINVAR:516249 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9afacf4-37b4-4bae-90c3-2b6c18a623aa CLINVAR:474901 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0749827b-de3e-4489-ace0-9c999bb15ebb CLINVAR:474901 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b44bb37-80d0-4fd9-8c90-c8c8dcc92e5e CLINVAR:203591 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e5e499fe-77ec-4493-9ba6-a1affc904449 CLINVAR:203591 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8d25235-ba9e-4b02-a5bf-f919a237ccbb CLINVAR:595610 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 532df99b-cb79-4aad-a8fa-20cc5aa82571 CLINVAR:595610 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3323667e-7d04-4702-9981-352fc92d3d9c CLINVAR:194317 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 895ffddd-2dba-41d0-8a87-f46603750ae0 CLINVAR:194317 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0ee95c2-8311-4622-b4b8-07bbd2cc3264 CLINVAR:429730 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cb67826a-05f6-40f6-985c-edd3a962ee63 CLINVAR:429730 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d9b1cb7-82da-4452-a4ac-a9bf382381b5 CLINVAR:932833 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d0cc4e6d-0de1-44be-bdab-c417f7d22de1 CLINVAR:932833 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5df0ff81-0526-47df-9285-394776bcc89b CLINVAR:379145 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d885808e-918f-4eae-85fb-93f48c28c76e CLINVAR:379145 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f552b5b1-ac7e-43f8-8722-85183e53e890 CLINVAR:4035 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e986eede-d509-49a6-aff9-c4b7b72ba11e CLINVAR:4035 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 932088fe-2c52-4349-aca6-c91e75ab1e8d CLINVAR:972747 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7ea59727-6659-4a81-9c6e-c8baed3a369b CLINVAR:972747 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8562e55c-9472-4d3a-80f3-a17e29c95e53 CLINVAR:198393 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7105a283-f3dd-49e4-ab96-13ac7c545dfd CLINVAR:198393 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 092c1283-f81a-43e2-9527-4ae410c0dc02 CLINVAR:930445 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 170c5485-ce1d-4f03-8fb8-88e9eed866d4 CLINVAR:930445 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7384af9-5483-4a14-88d8-ac859e954943 CLINVAR:495664 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7c7e8389-6000-4df3-a734-3da874754a95 CLINVAR:495664 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db45d5c0-4942-4bce-8ec1-aabedab3c553 CLINVAR:550825 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 39db6390-87ee-4f57-9df9-558966617043 CLINVAR:550825 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9406d95c-1ef5-4267-ae82-49d1a1d7f553 CLINVAR:283230 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 64d8fa01-a394-4312-8cdb-d361e044ebb1 CLINVAR:283230 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d11dc5e-e58a-4333-af0e-295212375835 CLINVAR:557811 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cee12910-14fd-4dfb-9f39-38172aec4644 CLINVAR:557811 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6a2b89d-a3b4-4dae-b5d0-5bef23d5b0bb CLINVAR:1308288 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4f687af4-b62a-450c-bee5-01ff735f1ff0 CLINVAR:1308288 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a468699-268f-493b-9019-f674dcaeadd6 CLINVAR:597944 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 45d6bc59-4b12-42ee-8d86-431e4870f6c2 CLINVAR:597944 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3945e6d7-5bfe-4796-9de5-59719a522c0f CLINVAR:237861 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f707d784-36ab-4b3f-8194-b545e26c2991 CLINVAR:237861 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8d8ca4a-0049-47b0-bf04-cb913610865e CLINVAR:251895 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 57c19b96-ed06-4119-8331-bf4216066541 CLINVAR:251895 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f4e7a64-1ebc-447d-8484-c90a37bae3b0 CLINVAR:252294 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b35a304-da24-4a6b-b078-cd7be75a9b58 CLINVAR:252294 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6ccece8-0b60-4f7f-8bc6-6419951d0793 CLINVAR:252295 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cdcaac28-f850-4477-81c8-ba763187ee5d CLINVAR:252295 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3730c9dd-4073-4383-bcbd-e49c4e010b63 CLINVAR:251138 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2e1f1b6e-9e04-426e-a56b-1ff615a09992 CLINVAR:251138 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c6e6e1a-2e2d-4591-ae19-93d8c4944468 CLINVAR:251876 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 62aef2c0-8391-4f8d-8b15-eedfa8015cef CLINVAR:251876 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84c59383-059c-4289-b513-fe49839d4741 CLINVAR:251808 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 27e23148-a3cb-4f0a-98c9-4b1ea8d94b55 CLINVAR:251808 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42398caf-6092-469f-b1b0-b2e27b36cb93 CLINVAR:226382 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b59284e6-306a-4188-9742-5aac49867a35 CLINVAR:226382 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51ddca1b-c768-44d0-b881-5f7a0ed88117 CLINVAR:183129 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8314be10-e839-473d-b5ec-6997008d925b CLINVAR:183129 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 663b17da-6e01-4575-ad45-b87fcc80c795 CLINVAR:927435 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4de9ac6e-625f-4eab-affc-d022a0f824e0 CLINVAR:927435 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2d90a7d-0c95-4013-93e3-01b8fdb84b45 CLINVAR:430743 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b1da6cdd-f2c6-44a7-bb63-d168bdac70f7 CLINVAR:252325 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d67312a6-d6be-4383-ab06-b613c378dd47 CLINVAR:252325 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1deee77e-568a-4963-a735-692547a38075 CLINVAR:252110 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6c51afd4-a86c-485b-a82f-766a9004a4bb CLINVAR:252110 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0eb1b3b-ddb5-4d53-a9f4-b73d9084598b CLINVAR:252109 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d870fb20-f233-47bc-aacf-f022d3373e69 CLINVAR:252109 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4b043d3-d68a-4908-9e40-ba1f291513e2 CLINVAR:438327 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fef82ddb-6934-4bfb-bd95-178b944da675 CLINVAR:438327 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9012b778-bd01-4fbe-9b3e-905df5e60b87 CLINVAR:250946 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4ceab086-6d80-44d6-b78c-0e6d9d58d49c CLINVAR:251097 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 401983a1-a20b-4bad-9ed2-95746e336059 CLINVAR:251097 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35e05c02-1e5d-4925-8667-495d9a56210a CLINVAR:252258 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 58b777e2-c34a-4a3c-9d6f-fc0e857871b2 CLINVAR:252258 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be3993b9-2fd5-40b3-8cf4-67a2eda2a6e0 CLINVAR:403628 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba12ae75-d3ad-47ea-a433-fedfc6d463a2 CLINVAR:250982 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e7dc604e-94cc-4289-8d75-c04c0128d59f CLINVAR:250982 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 993f6c00-2001-4b6a-a9a0-79c256dc2732 CLINVAR:919564 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e13619fb-164e-4207-9d8f-d1e3e859b288 CLINVAR:919564 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da41a040-eeff-4e26-961b-c43c7ab0a556 CLINVAR:252065 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 893f1e20-6c2a-4f27-8d86-8a9d758095ae CLINVAR:252065 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7800bebb-214c-4bd7-a4c6-e9bf43d48f56 CLINVAR:251040 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9f237183-c72c-4320-b599-21fdefe28661 CLINVAR:251040 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 955b0d8c-9feb-452b-87ea-d9c5bbfc97cd CLINVAR:523722 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 682851ec-b7d4-43b4-bcb8-94e75897dd15 CLINVAR:523722 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0b72d4f-1d6c-44bd-a25d-3c7fd2e98748 CLINVAR:251087 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8816e70a-a165-469b-842a-3bfa36f14705 CLINVAR:251087 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 566a68c0-0e19-45d6-b7cb-1ac9164f7af6 CLINVAR:923296 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6e91633c-671b-4703-bbcf-c1abe44a8383 CLINVAR:923296 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9ff0512-ed34-48b0-8d5f-2f8aff53aefe CLINVAR:430774 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5cce8ada-39b4-455b-9146-abdc713d77a3 CLINVAR:430774 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf55f1cb-234e-45f3-8a9b-befd07665128 CLINVAR:183115 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 809427b1-2778-44ad-97f6-7b0f83d494ec CLINVAR:183115 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5024ed37-19c8-4d66-82c5-b8b5b8be196e CLINVAR:252022 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6d2f9b7b-8f37-4bf0-b725-43b2fd27f350 CLINVAR:252022 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a003f2a-6edb-413a-8e66-8f58078167e0 CLINVAR:441222 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 02a1a600-6143-462f-a31a-c0de3df2b4c5 CLINVAR:441222 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b141e55-0273-4b3b-9608-823f8871c3bd CLINVAR:183125 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c9e242e-8191-49e9-a991-80492a5aaa33 CLINVAR:183125 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adf3657a-92ff-45d4-9f8f-21d8dacda3e8 CLINVAR:252036 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 36870f52-3859-4f8c-b40f-9d66e2085526 CLINVAR:252036 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdb85441-9f7a-4689-acc3-3c349844b473 CLINVAR:424578 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a8f3866c-caf1-4dba-8c39-ef3b8e0748d9 CLINVAR:424578 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1b56803-bc5e-4ca9-9000-30308206f83d CLINVAR:456652 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a63808b-ae5e-459c-8a37-2acf0c518b1a CLINVAR:456652 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b12cec2-08df-4da5-b761-5701ba4e4f01 CLINVAR:252071 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ca600222-1b10-440b-bc80-c7616d665203 CLINVAR:252071 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d84ecc4-f4b5-414d-bddf-6909e500f8b2 CLINVAR:251774 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8c9f037c-d4b2-45e4-b0d2-08f65f129faa CLINVAR:251774 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf0287e5-722b-4540-b615-4f7038355259 CLINVAR:251773 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e9139adb-9bd7-4312-a4a7-c2659bf31eae CLINVAR:251773 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4cbd97c-ece7-4fa8-ae0b-27dd11c0f300 CLINVAR:251775 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 286ceebb-6625-460c-9b63-b397223f6c99 CLINVAR:251775 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5b2562f-58b6-429c-8d4a-b81aad7b8f72 CLINVAR:496018 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b34fe6a8-6273-4b9a-9179-8023ccdf1df5 CLINVAR:496018 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e362ff6-3568-427a-a3af-21aed3dc1bdc CLINVAR:251510 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 76044040-202d-4361-96b6-a7e76fe33871 CLINVAR:251510 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e614f80-5630-4df7-a594-01f6ee466da9 CLINVAR:430742 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa82bff0-075b-4550-b28e-e318320a8975 CLINVAR:430742 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ea646a5-2131-49c4-b00c-5ccf92d8d327 CLINVAR:924646 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 404febbf-e1a8-4f26-b996-46551328bca8 CLINVAR:924646 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29764b65-a55d-4eee-be88-57ca8b36d7e1 CLINVAR:251704 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d1295569-15f1-402a-9712-b6d26f32f533 CLINVAR:251704 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf8b77a1-170a-49db-85ed-7f75e1775a9c CLINVAR:870321 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d173dfaf-a185-4502-ae89-a9b6005445bb CLINVAR:870321 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8f013c3-c238-4314-889a-ca66ae4ecffe CLINVAR:440630 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a964b4a9-0231-474e-829c-d1fbbab621b4 CLINVAR:440630 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acba7dc1-4e48-44d4-a53c-47aff26cd4d6 CLINVAR:924165 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 520710c6-1204-46f8-8fa3-1e020917db0a CLINVAR:924165 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60140d23-f27b-4a7d-83bb-2a2c0141eb38 CLINVAR:250949 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 328b47c3-1ff8-40d3-832e-c643ae99c85a CLINVAR:250952 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81e71f60-4cff-4df7-baef-e7aa09aef219 CLINVAR:250952 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89383e4e-9364-4f66-a93e-77d6b183fb21 CLINVAR:430745 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e8165893-a6bb-4eed-99aa-0496b8b8d515 CLINVAR:430745 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7a2e514-f708-4055-a6c5-85dc779ed4b0 CLINVAR:252046 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d3724c3f-5f33-4636-a938-446e1f2655c6 CLINVAR:252046 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b769a130-8b50-4b11-9af1-08841a6da9dc CLINVAR:226304 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 393b987a-e44f-4fb3-8ef3-2024ce53d836 CLINVAR:226304 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 338fdb12-805e-4932-8f3a-21b996002017 CLINVAR:183108 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 92efd596-bb66-4715-ae67-a5bf97d1b30d CLINVAR:183108 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43a51d21-0227-4619-9642-a657446e5b36 CLINVAR:250971 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8da39b70-1c6f-4d0d-be6f-713ae062e86a CLINVAR:250971 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79cc967d-6e56-44fb-a320-ddaecfe9f9c9 CLINVAR:183094 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71b4c1be-ef08-4cdc-99fd-b95f498fae40 CLINVAR:183094 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 877b8ea0-ca36-4cfe-84e6-c94e51028a45 CLINVAR:927149 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2de990b-6a4f-44ce-af91-a01552420ffd CLINVAR:927149 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8870f798-7a62-49ec-af51-a5e036e627cf CLINVAR:440602 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e23fee55-e53b-436d-8b10-377390641793 CLINVAR:440602 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b711a990-06e0-4ec2-8645-43ae3864ede2 CLINVAR:251447 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d0c8052-1856-4f51-a9de-7993b543ce2a CLINVAR:251447 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e09842b3-148f-4393-9a1d-84917939201b CLINVAR:456412 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 455f1920-77fb-427a-b5ff-ab0a374e1b32 CLINVAR:456412 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 262126f6-bd02-4c32-a4ef-74e4ffa76a8b CLINVAR:143526 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a22a08e0-a4c5-4e3c-8879-e57f3b549291 CLINVAR:143526 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 880d8dcb-a94b-49b3-a1ca-eaca079c2b94 CLINVAR:690207 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0f09ab3e-3ad8-4481-9fe4-8562f31b3510 CLINVAR:690207 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14d27a04-8f76-461b-9f72-df97b959e6b9 CLINVAR:9586 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3b6fe0c7-a67d-47fc-afa6-1db47b0ef2b5 CLINVAR:9586 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c415add-301c-4348-875a-d1d7af05f333 CLINVAR:42226 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2fe6c02b-088f-4b35-9149-978002d4fa94 CLINVAR:42226 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5cff831-1408-4b33-a409-29fa7a964e91 CLINVAR:689871 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8ca0e30d-3cd1-46d1-8ca2-5c750b780a2f CLINVAR:689871 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb104676-ae63-4f70-b906-8ae1be6545db CLINVAR:9612 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f0d7d57b-9d59-49b6-9f1f-4f197998fafc CLINVAR:9612 biolink:is_sequence_variant_of HGNC:7486 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0b432d6-82bf-477d-97a6-c20f7b97cebe CLINVAR:9624 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c60fa7f1-e182-47d5-b660-398be25a3125 CLINVAR:9624 biolink:is_sequence_variant_of HGNC:7475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab82b081-314c-4520-ba57-b1d35ebd304d CA913170013 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ed2d223-a991-4a15-9f57-688844cb6e7e CA913178900 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d94f7ca8-d624-4a9e-b32f-a1146dfdea1f CLINVAR:9566 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a42cb0a8-9b04-4688-85ae-1b055e2747c2 CLINVAR:9566 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 977aed7e-e30d-49c1-8660-d674e567d9da CLINVAR:932827 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 026520b6-93a0-4e5f-8030-fd5fd7e72684 CLINVAR:932827 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e65c3da-9111-4eb0-ac7c-c3974f7bab54 CLINVAR:935797 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5238b30d-592e-4730-b397-0bc491b16403 CLINVAR:935797 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fc252b5-ed2c-4686-8e4a-6867c1be9277 CLINVAR:932845 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1917a14d-38fe-4413-852d-8e36786f1446 CLINVAR:932845 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f18773db-61e3-4e46-9f3a-250ebb47505a CLINVAR:690181 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5a85980f-fb5e-405d-a07f-7ec3ef35a994 CLINVAR:690181 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 522494a5-05ca-43bb-8298-5664124423ea CLINVAR:689874 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b1647e6-a984-4170-8342-326912b39898 CLINVAR:689874 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5261736b-3b1c-403d-933a-f2fcddaf21fc CLINVAR:379889 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8e2b8a02-9159-4c40-a344-1470e68e8b40 CLINVAR:379889 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a16d353-af58-4cc3-b68b-8ec7034320e1 CLINVAR:225920 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 44dc3c2a-c1a7-4473-9fa3-5e74d5c22979 CLINVAR:225920 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bad06ce2-4b36-487c-a490-f16f15b1f237 CLINVAR:225916 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5328c402-f524-4c4c-8eb8-ddabc1ae39bf CLINVAR:225916 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9b2b17f-7d8e-4276-b5d9-ea76d10e7625 CLINVAR:225913 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 45d5aa4f-ff8c-4367-816f-95d15abc0a14 CLINVAR:225913 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e121ae0f-8044-46c4-be3c-eb60fd6a9486 CLINVAR:917494 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b5c56f00-805b-4c99-9bdc-fe98de7f042d CLINVAR:917494 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a11c121f-e607-4ce2-bc67-ba103abe690e CLINVAR:917493 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f7d5161-3437-43cb-839b-8bf50f73dc73 CLINVAR:917493 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c16b9e0-722e-4d38-bb2d-90fad093d93f CLINVAR:225918 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 01c007a1-746a-4723-9cbe-626af522182a CLINVAR:225918 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3117e142-991a-442f-98b2-6ca659393bfd CLINVAR:225915 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8dbc4731-9127-4f7f-b5d8-4e30d3c8b603 CLINVAR:225915 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2b3a1ac-9795-45e3-847a-91d04662c415 CLINVAR:225914 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a59f252a-dc40-468d-a787-c90728cb44bb CLINVAR:225914 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f384a3e-5f30-464a-822e-47376396a184 CLINVAR:1478699 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6a0f5a51-6946-4a61-a45b-1d673d35a0d5 CLINVAR:1478699 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a413520-5e6a-4f37-bc29-5c43fcd81996 CA392260686 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fccdb7cf-9e3d-4c72-8a9a-6f7c23368d46 CA392260686 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2858d08a-e6a6-4d89-949f-3cc3fcac5f01 CA402996427 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eec206fd-d073-414d-8de2-a31851ac7d24 CA402996427 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81983bda-3980-474f-af29-86502107c2dc CLINVAR:556882 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e1ed3fe0-9614-4697-a3fa-40a415b6bc4a CLINVAR:556882 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12145107-2ded-4e63-95d1-6af0b80ec334 CLINVAR:1487846 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 96323152-deec-4282-b42a-7e9208b646e5 CLINVAR:1487846 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b06cf428-1fde-41be-bd2b-8ebdc9f9a921 CA1139532474 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2f384c0e-f547-484f-a085-dc110a1414d3 CA1139532474 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f40e0b3-5225-4a19-abf2-b4555800781f CA269524632 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e0713942-c9ed-44a4-a438-5e47d3235dea CA269524632 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ebdfdda-1754-4da7-b48a-3886f584c1a7 CA2573320295 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c55a7d93-dcb0-4ba2-b7cc-4d898e864185 CA2573320295 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa433076-bb43-4efa-94f9-b44d7b0e3238 CLINVAR:645957 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 28818832-e7af-4019-a3e2-95c3f2f9ba67 CLINVAR:645957 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf266b4e-266e-469e-8da2-586fd9b414c8 CLINVAR:429154 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d987eef5-0a53-41f6-97d7-91d727504738 CLINVAR:429154 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f8c44e9-4b0f-48f4-8f89-3362190c5e59 CLINVAR:644129 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 647c90c2-8c41-462c-bdcd-2615bc33bfde CLINVAR:644129 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d61df28-fe3c-47ec-adde-a8d7011537c3 CLINVAR:483408 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 453953b1-85b4-4762-81a5-5dcd876805b7 CLINVAR:483408 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03c250b1-a377-42e2-8654-19b41fc643e0 CLINVAR:825868 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9fe3b529-9daf-4067-9a07-881676a33ebc CLINVAR:825868 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5075ab03-6ff7-454b-92bb-68823018039f CLINVAR:375463 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 96df8e4c-5906-419d-8717-88625a114f1f CLINVAR:375463 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22188747-3680-4bf7-9902-1cfc6912f6a0 CLINVAR:866837 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 95b82264-4b05-4260-93b0-81251b3c0dc2 CLINVAR:866837 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4249ffe6-7f60-4479-8125-22346cde0d27 CA913187307 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cec64f9b-2c59-4b73-a364-ec1dd583fd69 CA913187307 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6d311a7-6e2c-4213-8dab-a4f6d3c1a31b CLINVAR:92289 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d2aef4cc-1712-4eb8-9278-18a1e8393df4 CLINVAR:92289 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9de353a6-5802-4d7f-a8d4-1f8ff010959f CLINVAR:474878 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 624dec78-50b5-4153-8586-f3a71ba68999 CLINVAR:474878 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b866a067-a37d-4de3-a194-97f4f4913d24 CLINVAR:941106 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d47ad132-21ac-4a9c-8c42-7c7188702ec8 CLINVAR:941106 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62c03263-078a-443d-ae27-49f8ef810e19 CLINVAR:932838 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 503b78bc-188e-4953-bab5-28e3259d86d4 CLINVAR:932838 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2976121-2f9a-436d-ad02-d0dec28f083e CA343719989 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fa1b3a9c-39f4-4bca-8795-8b507eaf89c8 CA343719989 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 533d49c9-8086-4a4b-b9df-7f1e597ff3e7 CA421939411 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a92d67c8-8a7e-4ac6-a429-1b8690cee3a7 CA421939411 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11079338-1e63-48d2-a985-bc66b6a3c351 CA421939121 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc950853-0084-401c-96c7-53525581d3ec CA421939121 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3941413-561c-4033-a90e-07d03ec4d093 CA421783387 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3efcb3eb-eac2-4d2a-a41b-22383c446e0e CA421783387 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df1e573a-ccf9-418a-99e8-992558157530 CA343726256 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6be99a33-f842-4c3c-aa9f-037c6eb5e760 CA343726256 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acef3566-5e20-4fec-a06d-3b5d6656495b CA343726232 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 36f4fa83-fb2b-4df0-b4e3-4fcaf0406bd7 CA343726232 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58bef86e-1dc2-48a8-94cf-ca43248b3fe0 CA343719729 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c358df2e-91fc-4ef2-9dd4-23b8d720db06 CA343719729 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7b584df-1805-4887-91dd-ac95541e6cc9 CA1244313 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f4f73a8c-ee8c-4b69-b14b-7cf8c107b78c CA1244313 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90f980f1-ae3a-4e89-937b-477b9005b595 CA421939567 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c3e532aa-9606-4723-bf34-2e4acc1cf33c CA421939567 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 331e7882-02b5-4fb5-8f04-847c7b4cd816 CA1139770890 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7028cf2b-e05d-4d13-b993-2ce9e6a32490 CA1139770890 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e02eed5e-7f02-4d1c-b969-ddd6d852e3d7 CA1244287 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 715d580d-9ef8-49d9-814a-6ef4663858f8 CA1244287 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72d42038-c49f-4838-be54-9983bd03ab3c CA343718023 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5703a332-939c-4872-b3f5-dcab7eb6946a CA343718023 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83b4eb2b-1798-41b1-af7c-b77c1e12bb49 CLINVAR:1313921 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8776b10c-ab41-4896-80db-7e0482857bb4 CLINVAR:1313921 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbde2cc5-be5e-473b-bfc4-16a5a8a37206 CLINVAR:293716 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5a3b86d8-7774-46c4-9ea9-75f59df80a89 CLINVAR:293716 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc7aa72d-72ff-4f9f-be4f-506ba78069df CA343725980 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eedcecfe-87e4-4a6e-9ff5-8804ff407325 CA343725980 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 570b3fbd-0c84-4f40-b5cf-d50daccc426f CA527600366 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 94b4bb8d-d8e5-4020-9eaf-7bb161374a20 CA527600366 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69649939-666f-4dca-9957-64ce01d43f38 CA421938925 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e5680675-05fe-4ac0-8b36-394168bddae2 CA421938925 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae64717c-6db0-4c2c-894e-098acd663dc0 CA343725776 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c369165-4e36-4985-9678-04493853dee7 CA343725776 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6fb4bed-ac17-4f68-b8a7-b4e1d0ec1af0 CA343727113 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 27d93e98-63a0-4084-b608-35d1560264a4 CA343727113 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccaf2de8-bb5d-4f7a-9599-8b36b47eb144 CA343725270 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e1bef1f-dd10-4f06-9848-d983c75adf9a CA343725270 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08a1eb71-d650-46f8-bca7-9e7b1c1612b7 CA32685841 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c74a2212-0f37-4198-81fa-d5242711e2b0 CA32685841 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a80f52d-120b-4fdd-b2c1-fe29a6b2d0cb CA343727064 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f1ca3887-c243-41fa-a3a7-8edc51b5a64f CA343727064 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c83849d1-58c1-4f9d-b8dc-56d91aaa0b08 CA343725124 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1092355-ee2f-4596-96eb-8f6f8ea2209f CA343725124 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94c864ca-8916-421a-90e6-f8d439fa627d CA343726916 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73f06bb0-7fa2-4787-bd3b-38064404db48 CA343726916 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 015e6675-ec41-4802-aed3-e3c637799ae7 CA1244093 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen beb7d2bf-2145-4ea6-8079-8431b881a2d1 CA1244093 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc08b981-1fa7-4503-8556-aaf733745a09 CA343724604 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 50b1016a-a146-43dc-9e2d-582d9fcbe9e9 CA343724604 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d50ee31-d0a4-4d54-87e0-ed85f48163ec CA343724410 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2ae1c726-9eae-473a-901e-c6d888108666 CA343724410 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 736c73b9-2181-48ea-b77b-5158e0dd95cb CA32685503 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af4b5257-926a-4c31-b42b-535ced765f4c CA32685503 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58a2caa6-54df-4d51-b4f7-ec0aa30b313f CA421938581 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen efa4efa6-5ce3-44e1-813e-2276e287409f CA421938581 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd406f22-e39c-4468-befc-1e82d1078fb0 CA343722900 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c63f02fa-53a7-4685-ae08-ca814230a8d1 CA343722900 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a29aeced-821f-4c01-b3e2-a9ea39b4a838 CA343726248 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 63626b25-96f3-40c2-9bdb-77232d6d520d CA343726248 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8605124c-cc32-40f9-a8e0-90916426c584 CA343725757 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 27b00b28-b3f8-4ea9-a0c9-91bddf8a4266 CA343725757 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17d4a070-14e1-4782-958f-9910941fc0df CA343725655 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bb18e4a0-9475-40d6-9ac8-60cb604da5ce CA343725655 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3d6dbf3-b427-495f-b399-cd9369ac2bd6 CA1244115 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a6042a56-b8f5-436c-9ef9-b6e9af5dfb3d CA1244115 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcd43da1-1dda-42ba-a0fd-81fd5e0bd5e1 CLINVAR:1439558 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 98ca2d4f-ea7a-4fb7-8557-6840e1d1d708 CLINVAR:1439558 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba3dbf29-427d-4369-91e8-807ac47e3598 CA343724987 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3812c65c-cf32-4834-adb6-e018b83f21e6 CA343724987 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 425d30cf-3441-41f3-a30e-3b14282aeb77 CA343724596 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 80682115-7484-4458-a7ba-19227445b51f CA343724596 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 677b3a6e-d723-48f3-a44a-954ac5812b48 CA343724341 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0f073b70-23e8-47a4-9664-dacb9613db4a CA343724341 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d7298a6-4513-4577-94bd-f7757e7f4fda CA343723835 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4627cb49-5cf3-4fd7-adda-49a0becd1a76 CA343723835 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fe5a4a7-99db-4473-96c6-1521d22ddac0 CA1244048 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 13bf131c-916b-4393-81df-23214e330683 CA1244048 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d52f41ef-f59b-4d31-9bc4-0af56d3c624a CLINVAR:412160 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4a3b4074-9e81-41b1-b67d-3d7828bd1606 CLINVAR:412160 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a0c1944-c3b2-4a53-94b7-865479fb81ac CA8603502 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 912933ca-4007-4acb-99eb-5b3d1e3285bb CA8603502 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11df6768-b079-4e82-b809-404f77e71cce CA8602740 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2a35253-f663-48b0-b8e3-62fa0d206758 CA8602740 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea9dfff8-c25a-403e-9e14-3277acd52164 CA915940796 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b4aeaebc-538c-4939-b62d-997bea28cccb CA915940796 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb93bbd5-80eb-4e06-9009-09f0ddf7dcf9 CA400033003 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ead1fa6a-6236-4d1a-9fa8-8bb44fb8f654 CA400033003 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f43f34d9-a69b-49c5-80bb-9919b1e8774d CLINVAR:890710 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 571bf008-7646-41b6-80f5-83e9f097b6ec CLINVAR:890710 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30689fa4-e7a8-4529-b8e9-09a47715d720 CLINVAR:890713 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53708d9d-85c5-4af7-a903-df4237c12516 CLINVAR:890713 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 372ff540-f5f2-47cb-a503-02d66e75c7bd CA8622991 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a944322b-12d1-414a-8a10-26c32a4f7c07 CA8622991 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b96425a0-87d4-47a4-b0f7-4816831592cc CA8623016 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ef35a5c4-4ffa-404d-8632-96b0eb81c2b2 CA8623016 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b11b4b64-818c-4bec-b3cb-168f8b266f09 CA399790399 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce88400b-bb40-46f3-83c2-eac626869ec0 CA399790399 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db186de8-7292-4a3d-a8a0-7bf4f13ae623 CA400029436 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dd01034a-a0ff-4e24-9544-9c83e029cc37 CA400029436 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12126279-acee-493c-bcf0-82acfb246221 CA400032606 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6d143664-db0f-48b5-b669-d794cd67b347 CA400032606 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70f7887d-c3f3-4235-919a-60fcb433f357 CLINVAR:9628 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a1198af3-cdd4-4ac7-8ca8-a164d5ddd421 CA915940266 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9238c4e9-78f5-40b9-9147-f9cd57581dbe CA915940266 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d76652de-603a-417f-9497-4cc83d836f4e CA915940809 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e720d0c-e314-4b8e-8828-e6409d15954b CA915940809 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f9c845a-ab32-4fb0-b96a-17248e8460ad CLINVAR:892353 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7cf88b94-b5c8-4149-90d3-44ca4df4b9f6 CLINVAR:892353 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7dd54de-091b-4e99-a758-26ac87cda08b CA399805912 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1e48bfe3-d9a0-4dbb-a57b-08255dfa3fb9 CA399805912 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bff3698d-50a7-45a5-a834-64a1d4c13c50 CA400024376 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0751001d-415a-41d5-832f-6dfa86141d0d CA400024376 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7552013-bec5-41a3-8c8d-9c32fb542125 CLINVAR:143603 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5a24599-cf78-461f-9e78-1aa70d204e29 CLINVAR:143603 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71452f82-fbcb-4bec-b879-259b0f7c6d3a CLINVAR:324982 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 986818c0-5d2f-4f37-b147-9c6decccfd1e CLINVAR:324982 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c11ef54-1c7d-4f2e-b4b4-8690410ca0a0 CLINVAR:371464 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 17026c96-57f9-4055-8bea-8e9c09ea4a46 CLINVAR:371464 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd52d90d-7707-47e1-ae7d-8f328ba578bf CLINVAR:555732 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b7bfdd6e-090e-4d4a-9e90-67f4cc3901bb CLINVAR:555732 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28327baf-1ac1-4737-b5e8-1ceed0451ae9 CLINVAR:1676595 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f56a0b59-950a-44e4-a140-987061414579 CLINVAR:1676595 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e57aca7b-a6d9-44c4-a368-d61f4302a4ff CLINVAR:825824 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1f01bc24-f115-45aa-acc3-01fa4fb1c7e3 CLINVAR:825824 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f515195d-05b9-4b4f-a0b6-6d7a11b4b0a8 CLINVAR:543574 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e980c871-7398-497f-9eac-74b93aca30b6 CLINVAR:543574 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 050e7298-a83d-47de-9e7c-92aa552430f8 CLINVAR:570456 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 286c0388-1b5c-424a-8916-58bf9fddc8b5 CLINVAR:570456 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f86f5536-5b5a-4448-854d-fb4c641f76ee CLINVAR:1687567 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cf1466ae-bf66-481d-9cd0-c31f25d91fc5 CLINVAR:1687567 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a057a478-aab1-4502-9138-a1d6c88277d3 CLINVAR:648917 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6cdc9b65-780a-46ba-914a-b23cf53b5e0f CLINVAR:648917 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d48840d6-fa08-4ba7-a01a-0ed526c64cc0 CLINVAR:1067574 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c301fe8a-1291-4c73-9653-01812d57f9a9 CLINVAR:1067574 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 472a91e8-8db7-41e5-ac1e-b28f5e8d05cf CLINVAR:972790 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen de4df88f-2ec7-4494-a12e-ff5abf7cbee7 CLINVAR:972790 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d98b949-c9fd-4e9e-bd9b-34e3dbd03819 CLINVAR:982297 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c3105ed9-79a5-447e-a2e2-5062f8251a61 CLINVAR:982297 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4860870b-0c81-41ec-bde6-7ade25c74208 CLINVAR:1037598 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7dae5172-4891-4065-87cb-e74e3d8182e9 CLINVAR:1037598 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23552b9f-d1ff-4550-84be-5527907020ee CLINVAR:92465 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 82c7c44a-9b5c-436a-bd89-152029067c62 CLINVAR:92465 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3259edf7-28bc-4648-be07-70eef37b2386 CA913184761 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1e13c60e-0a0d-49c9-a2ec-c8d9838e2346 CA913184761 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7ccf682-a1f4-476c-97c5-2014d6a48cb0 CLINVAR:1353052 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 51889739-f3fe-4aa6-a9f9-2542f370d3ce CLINVAR:1353052 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6de5f77d-ff9a-459d-bee0-76b2d460393a CLINVAR:11699 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 89cc37d8-2bce-4031-91b3-66ffb0b2d5cd CLINVAR:11699 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 866a1459-a565-4192-9404-3d77bd591ef1 CLINVAR:520792 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f43f67e7-8c0d-40c3-912d-276d5557ce3c CLINVAR:520792 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da4b5db1-0fbc-4359-b3fa-e496732e7c36 CLINVAR:430374 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 93b467a4-330f-45cf-959b-44fb82833a40 CLINVAR:430374 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 660ff012-58db-45d6-87c6-5a51aa610d62 CLINVAR:844968 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7ec1667c-9e75-4a90-adea-2689524788b1 CLINVAR:844968 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9ab2c67-e5cb-403b-af08-f19d083a615f CLINVAR:916122 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5dee58b0-2bb8-40b1-b31b-4def19cdf1ef CLINVAR:916122 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fb92bce-32d1-4fe3-856b-02981dcb0bd7 CLINVAR:849693 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6510f706-de08-4aaa-bc67-1485a057ad24 CLINVAR:849693 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b5ffadb-ef39-4732-add5-712e9c9d2fb2 CLINVAR:939992 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen df1992f3-026e-498f-a845-f8312f577e3e CLINVAR:939992 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06515220-77ac-4953-bfa7-3faf9f14c3dc CLINVAR:205598 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 96397027-c9df-4fc5-89f7-1cf4992f5b08 CLINVAR:205598 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 024633af-7330-4824-b98b-2dcea74a1b3a CA392254706 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a877d6ad-d0ca-4997-b2d9-d1fffa9afeb0 CA392254706 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddfbbc60-8f98-4be9-a2a6-3faebc63dc2f CA415084325 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eca3b050-c710-430f-b192-deb06c050cc5 CA415084325 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d097a3bc-a66e-41c7-b924-2c4b779248bf CLINVAR:1211026 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 643c6982-7447-443e-9f05-079cec5f2d92 CLINVAR:1211026 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ad59da5-6cee-4836-939c-2962211be172 CA415079466 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 736ff2ca-1fa2-4131-8d79-b82b4b82edd6 CA415079466 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc8ab5eb-5f60-4a5d-a88e-f7186c38f1dc CA2573334474 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 37581f18-64ab-49e1-b50e-29d4d5a43104 CA2573334474 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f514e6aa-d448-435a-b0c4-222ce4610e9d CLINVAR:2446447 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8cc33a8e-ad3b-427a-9539-730ac11cd362 CLINVAR:2446447 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37cfa283-104d-48ab-8e1c-ec9971278f9a CA2573334479 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e4bfaa22-e0da-4f60-9c44-85af42f39d58 CA2573334479 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a01cfeb4-472c-405f-84e7-bbd5b361d597 CLINVAR:392462 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5ae1be21-c20c-40d8-9594-70b1b33191cb CLINVAR:392462 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06206044-7884-4cca-b41e-2191345dfde1 CLINVAR:689840 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 83ea2203-e941-4a29-96af-c7250ac0b327 CLINVAR:689840 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56c46fb2-b0d4-4512-9ca2-468357541981 CLINVAR:9573 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 25677c96-276e-4834-bde5-5deb58ef5677 CLINVAR:9573 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11d8d8c6-f388-4c44-b0ed-3b98fd4d5846 CLINVAR:689856 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f9f2b069-ddb0-4fd8-a83c-1df78ff50085 CLINVAR:689856 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ce71757-037d-468c-be1f-8333ddd25c3c CLINVAR:9683 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c1516f67-afa0-4ca0-a897-eb29c6eb3f70 CLINVAR:9683 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81c44acd-947e-452e-b9ec-e7e88fa9fe80 CLINVAR:628229 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d4ea9767-f707-4f8b-a3ff-e0c758f778af CLINVAR:628229 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b187f12a-cd31-4ea5-8c50-1b8c803063c1 CLINVAR:824698 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 04bd2d72-9ebd-4344-be3e-c73f68ad96d0 CLINVAR:824698 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d65fbdce-338d-4bc1-923f-b9c175f65f73 CLINVAR:217982 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 97deb9e1-63c5-4272-944a-2d1f71d90377 CLINVAR:217982 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 845f3c58-dede-4c4d-9c30-00fa24ff6377 CLINVAR:804 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f1f8bd72-3ba6-45e0-b6f7-017077e223c9 CLINVAR:804 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e637827-5ea9-4e82-aac1-c20e84067653 CLINVAR:411469 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 65669f9a-720d-4455-8ce7-6a67eedcfdd8 CLINVAR:411469 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f29caa4-918a-403b-a9a8-34fc11c77c4f CLINVAR:218000 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6dccc03d-02e8-4f1c-87b9-5cd9d54d6622 CLINVAR:218000 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 730ebd26-d13e-4467-9b18-4f81fad0670d CLINVAR:827113 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab571cdb-8bd1-47bc-9bff-e875804cefed CLINVAR:827113 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38535d20-2bf4-4b0f-be1b-32f8280eaa6a CLINVAR:418007 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 21f45344-8f75-4180-a7ac-cc53bbb643a0 CLINVAR:418007 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be78746d-6171-46a1-a81e-61301d8d3e1a CLINVAR:184999 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f2e05866-02e4-4b04-831e-aabc0351510e CLINVAR:184999 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0706e62c-b346-443a-9aa8-856f881d747f CLINVAR:822187 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2666c992-f16c-4231-8416-fffba8c7c46c CLINVAR:822187 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3db680da-9a2b-4e28-8604-bf8581f1dd3c CLINVAR:438864 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fe8ba7fa-d13a-4ec7-87f6-8e7dc1f55435 CLINVAR:438864 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ce043c9-c547-4a98-94c4-c12df01103ac CLINVAR:826 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3073193f-bd25-4e02-a038-6874aa551936 CLINVAR:826 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cbd6ec1-159c-4abc-a9bd-5730c064b4dc CLINVAR:230944 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 11297560-642a-457a-bc62-cc04b802e56d CLINVAR:230944 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beb37994-cea0-4d8f-884c-166db5027df5 CLINVAR:411555 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3ec4de5c-939b-4e47-aa26-69dc69696add CLINVAR:411555 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41f06557-c341-4abd-bca5-4f3694b8aeb0 CLINVAR:649594 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7d95768f-7d88-4571-8e58-a458ba764ab4 CLINVAR:649594 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49da0421-c374-4aa0-a254-2ac70d6d41f3 CLINVAR:490221 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c34d2bf9-0484-4700-8446-85475859f2d7 CLINVAR:490221 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c765bba6-d5db-4375-9206-26909c8ae12c CA658760617 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d4dee8d0-3fa1-4769-ba8f-97df61b2ba2b CA658760617 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fb72c54-e6fe-489a-a5bd-a30bf400d22f CLINVAR:419202 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cd2d2881-9ead-4998-acf6-168406c83c2d CLINVAR:419202 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0b45338-28e3-4b1d-8cb5-79a356d235dc CLINVAR:428167 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6037a711-69eb-4d8f-b068-554a166d618d CLINVAR:428167 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d5c263f-a47d-49fd-a0d3-350c5ed98845 CLINVAR:1393312 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 44e937f6-c4d7-4e7e-8e17-470b63992c0e CLINVAR:1393312 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34498555-c4b7-4e4c-86cc-8e73d479477d CLINVAR:428186 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c1f0eb6d-2959-43e3-9621-c6e196601607 CLINVAR:428186 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d74d1fd2-a1ab-4bbd-ace1-4804d6cc9b7b CLINVAR:469904 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c80d52df-0122-48c4-aeca-304500ab3ba8 CLINVAR:469904 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ee79fbe-55e5-4565-9dd6-8d23c17fe2bc CLINVAR:233215 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c4cc3314-aece-43af-a9bb-712ec05046a0 CLINVAR:233215 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be99911d-7973-48ea-8c94-68f0c50212b1 CLINVAR:862543 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8873a9dc-c90c-4894-b167-539c8887a9eb CLINVAR:862543 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f77b285-d5f0-4b65-a1b6-6507eafcee16 CLINVAR:816 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 19be125b-7fbb-4de7-99d2-1b548b1ec070 CLINVAR:816 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14769920-e51e-49d4-a165-74424d2979aa CLINVAR:140839 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 12c4e469-0a44-4876-9166-3643388c3c8f CLINVAR:140839 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bd14b58-ab61-4e91-b947-e596dc9fbe1a CLINVAR:486786 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b78d6751-b635-4def-9883-1a6677bacc6a CLINVAR:486786 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02cbebf1-e28f-47d2-8c1c-3ec2713174c2 CLINVAR:411472 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e45ef7c2-bcb9-41d0-a0e5-87222aa9728d CLINVAR:411472 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18473ed4-65dd-477f-b9a6-7c7f740a9cc7 CLINVAR:371858 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen da825492-c96e-4d9f-8404-bca82aafeacb CLINVAR:371858 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f39bfd9-9b78-402d-bb1a-f2e3adb34871 CLINVAR:486740 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b65131c7-779d-4522-9c7f-f0055f9ef98e CLINVAR:486740 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aced0e23-cd4e-4691-a8a3-afd408fb3e81 CLINVAR:950642 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 99cfb29f-926e-4620-8437-ecf083cebd34 CLINVAR:950642 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92eaa6c4-5d8a-4d17-b306-fd56ee420fa3 CLINVAR:537703 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 30fe9b65-84b7-4922-929b-3de0c7d5f123 CLINVAR:537703 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19222a6f-a105-4767-bcb7-c47de28487dc CLINVAR:429040 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f4cc5934-ed35-43d5-b112-191887b01548 CLINVAR:429040 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6e5d754-d947-4d11-b8aa-85ccd8d3b041 CLINVAR:642643 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3e7d0eaf-78ae-4b46-9715-bd1b4f46d14d CLINVAR:642643 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebe90f88-10d1-4e23-9891-0441c57674d1 CLINVAR:9618 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3966cb4b-e65c-4ea2-b493-db5b49bba079 CLINVAR:9618 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6e5199c-5dcf-443c-a1e8-660189010df7 CLINVAR:9610 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8e8a1603-a275-4619-95b4-3d99132db5de CLINVAR:9610 biolink:is_sequence_variant_of HGNC:7487 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1878b4ba-71cb-40f6-8913-3e042654302f CLINVAR:9580 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f08cbb5b-f59b-4559-b99e-7da19300c122 CLINVAR:9580 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a03acca-51aa-4842-af23-5f2de8a4dcf4 CA913170089 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f36f1fe6-77ec-4417-bd26-36762fda0a31 CLINVAR:9616 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 833f3b2a-1b04-4e00-998c-27138b080ad2 CLINVAR:9616 biolink:is_sequence_variant_of HGNC:7495 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d70fd90-9ba5-42db-aaa2-1e880a2d702d CLINVAR:9617 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 17bc0cac-e072-4868-a51a-bfbefcf81f86 CLINVAR:9617 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48b23fcc-1e25-41d4-af58-75164ad793da CLINVAR:102628 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b90f4664-4364-404b-8fd2-cc058aa47525 CLINVAR:102628 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b864206-9ac0-4bea-a58c-d589a9b249e0 CLINVAR:1460083 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 303ffe58-4abc-4301-88bc-56d6460739b2 CLINVAR:1460083 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bba801ec-a4ac-4116-b2a8-5d482c07f51a CA16020827 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 650c4eef-74a9-41e8-b934-5ade809fa0c7 CA16020827 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7a26ead-3076-41b4-b1fe-be1caa8c2ee2 CA913178210 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ce19a2e3-28fc-441d-9277-3024d60ef6d2 CA386304171 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c35608af-c7ce-49a2-8f94-a1688a4c92db CA386304171 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b54d5db-b582-47c6-a1e3-2a479b58c056 CLINVAR:102746 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0f9a4128-6095-463c-86bd-830a6bf2528c CLINVAR:102746 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e3236e0-c090-4371-87c3-12034623d40d CLINVAR:576828 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 68c09354-69ac-4ccc-aedc-554407d85a81 CLINVAR:576828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf9338fa-afca-4e93-b565-9cd5116876b8 CA2497030226 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e4330e1-e011-4fff-bced-16253e7094f6 CLINVAR:557365 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f92260fc-b7c7-4f73-8a16-374543d6c12b CLINVAR:557365 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8ebd02e-021a-48d0-87b5-dcae9dc22092 CLINVAR:595611 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dce81408-e07e-4053-841e-c9755a21f77f CLINVAR:595611 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e57be943-56d0-418d-a80b-50fc0700f411 CLINVAR:102625 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3b5572ee-f942-409f-8253-f490f638ed85 CLINVAR:102625 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1d33f7a-9540-4f64-8ec8-6c971ef0a393 CLINVAR:9565 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5c99ca5b-d4da-491c-bbf5-c153f7864687 CLINVAR:9565 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8d77392-babb-4339-a659-9be9429c8362 CLINVAR:9581 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 94e0cede-786c-43be-92a9-7cd580b3914e CLINVAR:9581 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d45f495-c42b-4169-894e-065c12c8ba48 CA8602771 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 659db0de-06aa-48bc-9fcb-27e6b7a714f4 CA8602771 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edb2a8eb-9486-446d-93c9-5f4e23607aa7 CA8603038 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bebac8b4-58a6-4906-97be-ade1c4f92e8f CA8603038 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 787f0097-657f-4320-b3dc-7620ee9995eb CA626121071 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 958b64ab-28a5-463c-9a03-f7a7eec672c1 CA626121071 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a966d9cc-e57e-4a03-885e-654341462c75 CA291224655 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 89df8a7d-4dd8-4483-9621-bf3431cda6b1 CA291224655 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30d6d33a-c8bb-40aa-bf76-5943dc1b4250 CA915940807 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce7a2d5c-4a5e-4201-a0bb-64f0bd5877c1 CA915940807 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3efb932d-a30f-43dc-9cab-dc48e514958c CA291224635 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d9708936-6a92-4a35-947f-59742291fffa CA291224635 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3014c3e9-7d54-4a2c-839b-46c462c102ee CLINVAR:627094 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 24f45c11-3089-4d2c-abd7-8b353ae1641a CLINVAR:627094 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f441bc17-fd17-4780-9c2f-7b1981df1356 CLINVAR:634433 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2ab72df4-ea46-477a-8296-572b3c78985a CLINVAR:634433 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0a20591-a5d5-4c59-844b-d3dd29ad418f CA16020822 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af267cf9-8a2f-4941-811b-9025e4237c4f CA16020822 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cca8e7b-610c-4ae9-a53f-1166b3468870 CA409106289 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 073bf358-f2c1-4b36-8d5c-83a0c12ab97f CA409106289 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99b7397c-038d-4018-86cc-ecedf2100257 CA409105438 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eba5a91b-45c4-4323-a117-8059daa8019b CA409105438 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67c904cf-2396-43a6-9748-a85a5ee293cb CA409104278 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen da307716-0765-4118-b8bd-994d24986103 CA409104278 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fae9b40-4d71-453b-af7b-a8bcfefb4e74 CLINVAR:660424 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen da2a9ebf-8e49-4bb3-97e4-b7fed70e8416 CLINVAR:660424 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 692b4b81-4c5a-486d-b44f-d196ccf66ef0 CLINVAR:932842 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71287e93-47fe-437d-b755-2588c4d690d5 CLINVAR:932842 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 646ebc6a-8d1c-427b-853c-d185b5e08def CLINVAR:932852 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c0f5c871-b4b5-4a93-833f-220071687a31 CLINVAR:932852 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ede558a1-b928-4a3f-9103-4ef09543aa17 CLINVAR:932834 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 289e6895-faf4-4dbc-9827-748f76299a89 CLINVAR:932834 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f2f4f26-8ac2-42b3-bd4a-ff97dc503e28 CLINVAR:932176 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0350f0b5-d70f-4070-8006-90bf171f0003 CLINVAR:932176 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18bcd21e-ae04-421a-9d4c-a8c8fe0c9dd5 CLINVAR:373427 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b5181ee6-21d6-4549-8dcb-5fd165f00eb8 CLINVAR:373427 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce601d6e-50a0-4255-9a68-e0916436fe91 CA1139533037 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e98698c2-b92b-4e11-8099-632f78e3d693 CA1139533037 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73523747-9365-47fa-9aad-5c4d44d5129c CLINVAR:618219 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 418fade8-5c3f-4b3b-91a9-8c6c1762617a CLINVAR:618219 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2fd9ac5-590d-4f64-a0a1-03f18a4985d0 CLINVAR:618216 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3e289c62-298c-4cc3-90e5-f1b9c07a5545 CLINVAR:618216 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32ae10ea-15c5-4190-89cd-8958ee10cc83 CLINVAR:65513 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 31a02cf3-4740-4ef3-a5b9-1e1f229e81c7 CLINVAR:65513 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d9d755c-3273-45f1-9b5b-ce44ac810b1c CLINVAR:9694 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 12ad93a3-444a-429a-ae73-79d89447a2e4 CLINVAR:9694 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f48bb0ec-c8ce-4c74-b031-c6ecfbcf4b22 CLINVAR:544251 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fb8168e5-9b62-4f45-8480-490d16305ae0 CLINVAR:544251 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffbd0b51-f2ca-400a-a686-2285a0b63d06 CLINVAR:1402763 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4f27a3b0-949c-44e9-9567-a2defb991215 CLINVAR:1402763 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dd0fb70-5700-4d6a-9f59-7de98e3fbb51 CLINVAR:8305 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e937917f-bf07-41bc-9d87-b95d5326fc23 CLINVAR:8305 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fd3d6da-08a7-4a10-89de-001a9229fd59 CA402998035 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 600680e1-ebb9-44b0-9d9f-2353ef50f97b CA402998035 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1308fb23-d147-4f40-aebc-f6637499a9a1 CA402998003 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2d525328-5cb8-4667-b844-c7d51e6a1a92 CA402998003 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b15f8b3b-0688-4c07-88d5-7aa9188ea918 CA402997207 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2d6c156f-1d3d-49d7-8d84-ade38bd119d3 CA402997207 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e177b8b-c645-48f9-b56c-f8815678b617 CA402997017 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 390dbb87-8669-42d7-b50a-ec372c4c6880 CA402997017 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5d31f63-1ab2-4ead-8185-03fc81673b4a CA402995480 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d2ab5747-9162-42b3-915d-418e3f962b9b CA402995480 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa6daf70-08de-4433-b05b-17b91b0a9dad CA402995388 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 25249c2f-acfe-4b85-ae23-03d448934e94 CA402995388 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ec6fe1e-30cc-451e-a12d-12ae4997ee59 CA402995088 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cc8285d6-d065-4f0c-a065-9f16296b1dfe CA402995088 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65aba876-cc9d-4e6b-8305-1eb0f8ecefbf CLINVAR:1335317 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 10792161-86f6-4c65-a727-b9ec12501645 CLINVAR:1335317 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76a3f663-ca81-4314-94fa-6695abb48cc7 CLINVAR:1409758 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e17b5dfb-b597-4381-841d-2ab06e95ecbc CLINVAR:1409758 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69d5a80f-8fbc-42b6-b76a-76c7ec365fbf CLINVAR:1328978 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f2ce2ca-d830-4185-9d24-13afd9f9ed8b CLINVAR:1328978 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad09e9ed-68f8-4216-9e7e-259302685fa0 CLINVAR:9583 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 946e52d9-2562-484d-92d2-8b861415a75a CLINVAR:9583 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61b17291-c429-484d-b72b-a16d8cac6a52 CLINVAR:9622 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 40946427-4a5d-4b17-9007-1d4a4dea9fe3 CLINVAR:9622 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 151abd90-172e-4c15-a272-7f4939ebaf37 CLINVAR:9620 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e62ea870-000a-49cb-824c-93a65a506eab CLINVAR:9620 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d46410d2-43f4-4047-842c-ff0ffe16da26 CA913180249 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 97006b33-c524-4126-baad-8d52ce812b05 CLINVAR:9592 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d69f7fbe-f8d0-4c70-b1ea-0796dfc6367f CLINVAR:9592 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd2c3c19-7726-42f7-823c-fc4e1fa5ca04 CLINVAR:393097 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb55b53b-fa1b-4853-9038-3626d514d980 CLINVAR:393097 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a178fb6-b12f-4b40-939a-567f1a9a63e3 CLINVAR:440665 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fac14651-e64d-4a9b-afa4-28669f00eb72 CLINVAR:440665 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27013699-b127-40e2-aa79-f98d6ac3b4df CLINVAR:251094 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d723cc07-1e3c-490f-84e9-05b65ab9657d CLINVAR:251094 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d0e4469-a559-4692-9e8d-f281860331cf CLINVAR:251095 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9171d575-7895-4f9e-9dbb-e31d4267d61b CLINVAR:251095 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e09e5c9-df49-4bd3-99d7-b34f167eaa9e CLINVAR:226310 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd8f1dd2-d9a6-4cce-a336-44f523bbdb09 CLINVAR:226310 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8055591e-23f3-4e34-a867-8a97f030990e CLINVAR:440592 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 17801d3c-be81-4a93-8f26-67f09cf0db56 CLINVAR:440592 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d93be308-2eea-4839-89e9-5e991ed8baf6 CLINVAR:189298 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6257d0a3-59d0-465f-93cf-82256d505f70 CLINVAR:189298 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff8e0c3b-7fba-42e4-b60d-0f103079969f CLINVAR:251805 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 66a22f67-a634-47b8-b4cf-3ce635bb4e3a CLINVAR:251805 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34ec705b-67a5-4cce-9f9d-e3214b6e70d4 CLINVAR:183128 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cd03824c-1e2f-44b6-898b-0abacf13737a CLINVAR:183128 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce19412e-8c29-4528-94e1-4a9ef86b2de6 CLINVAR:252127 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0797006a-71db-4bf0-b559-2bd723617851 CLINVAR:252127 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63bafb68-d643-4ed7-b10f-534ee2cd4b46 CLINVAR:252128 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb5b8ca7-16c1-41b2-b28a-5e4752efe698 CLINVAR:252128 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 241aa4e7-6cdb-4ecf-b6f9-ff7392d02771 CLINVAR:251727 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 97699b7d-5a0f-4498-8ea3-fd89089ac455 CLINVAR:251727 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf366e04-598b-4635-a0bb-7661cc9ea220 CLINVAR:252306 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ca5f9bd6-c92f-41fe-a26b-43efe909624c CLINVAR:252306 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29917d87-8632-4899-93da-9aa799e53740 CLINVAR:252340 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 69171450-8da2-47cc-8acc-33e1fccb9a37 CLINVAR:252340 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e649a9cd-6e71-45de-80a2-04c3eac376dc CLINVAR:252341 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9782307d-245a-4a7b-a5fd-3c402d7e89c3 CLINVAR:252341 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4878936-84bf-4469-a38d-dcec7c721b5d CLINVAR:161265 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 66ffe1b8-1780-4442-85e7-494ca6f813a7 CLINVAR:161265 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de5f4bb4-92b0-40a4-add3-a03394996e55 CLINVAR:440701 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b15078a-8891-492f-be34-1e1a99eb1532 CLINVAR:440701 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9814e2e-ebbd-46be-b0c8-03103bef6c14 CLINVAR:252141 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fe58d638-6003-4956-8d19-fc74f5867bc9 CLINVAR:252141 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c2a2d21-b4b2-4b84-a7e9-bb22369ba281 CLINVAR:430757 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b5f48e75-9272-4f7d-8896-398a9c26c9c3 CLINVAR:430757 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c6d6554-b293-45eb-bdac-13c70b1d1949 CLINVAR:250942 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 03b73793-6e15-484c-908a-dbd6765fbd74 CLINVAR:250942 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dbaf22d-6e61-4342-8595-e6e75646749a CLINVAR:440600 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af4d79a4-5890-4e91-a6b1-e50f410950e0 CLINVAR:440600 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 608ed7ea-b933-47a8-9449-da380ea53de5 CLINVAR:431538 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0159cb4e-eed9-434b-9304-13cad9faa48c CLINVAR:431538 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1763cd05-fb4f-4545-a52b-3bdb5b1bf649 CLINVAR:440670 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ec708d85-572f-474b-935e-32341a7734d9 CLINVAR:440670 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3878b34-1791-4dbf-87dc-abc27ddc5ccd CLINVAR:251489 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e2b95939-c941-45b3-a4e9-436b77d3df1f CLINVAR:251489 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0beca736-8369-4277-8bd3-fb15c7e95af4 CLINVAR:375809 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33beb8a4-18be-48af-b55a-2a66482fd14d CLINVAR:375809 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcd9821a-10fc-4124-a13b-7c4403d336d2 CLINVAR:251606 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d5d63dcc-0905-4ee6-93d1-9de1179ad9f6 CLINVAR:251606 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ce9e543-5245-4cdb-a7e1-fe4f715a4e60 CA386493486 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 12dc72f3-6958-4cee-b238-d36dcea79b10 CA386493486 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7aaef25a-8b41-4857-816b-e0773649a173 CLINVAR:102810 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c4c8376f-eb31-4007-be9a-648ae040aef1 CLINVAR:102810 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56400873-a464-4235-ae02-cd24dafd16ba CLINVAR:9563 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c4652dc4-074f-4df9-bf86-7636e5e5ca13 CLINVAR:9688 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79c186e1-70d2-405f-8dae-d24987f297ec CLINVAR:9688 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1ff5025-ff0d-41cd-a96a-d420b74bbca6 CLINVAR:9570 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b9d5d1b7-d9cc-4adc-9c14-95dd9e4de343 CLINVAR:9570 biolink:is_sequence_variant_of HGNC:7494 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 401e8950-7456-4bd1-b9cb-f14b9209ba99 CLINVAR:9560 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4cb75415-47e2-44e4-b776-b55d499f1264 CLINVAR:9560 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dd60ee2-5cca-46a0-a992-f1d0b9b1bd39 CA421939061 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 14de401b-e8a1-4265-a34d-9ebf9501c972 CA421939061 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccc6d7c9-6b8f-4ecb-a5c2-922a4f631942 CA343725112 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15ea2efd-c472-4bcf-9be4-a45962d9ff4e CA343725112 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf21ba7c-1ec9-4e8a-9899-982b66882543 CA343724698 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3bf0ab88-ffcd-4c4f-9ca2-f854359c3de6 CA343724698 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9d32cdf-1bd2-4698-8606-122804f3de00 CA343724639 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a41df3fb-3804-4180-84e3-9f5c3c8cf773 CA343724639 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7948140a-7001-46a3-8a83-7ef7115476b4 CA343724203 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c9c5969d-28e4-4af1-883e-68c3b4134e90 CA343724203 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0973f8e-52fd-4303-a2d6-acf6a2907b31 CA343724007 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff1d03bd-6fe4-4273-a917-bcb7514918b4 CA343724007 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a258f3ca-bd88-4f21-8335-662a7b9a0691 CA1244044 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d54d3644-3484-4b48-a957-260ba514092f CA1244044 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 868071e9-dcdb-4b56-8815-e8ec64403b12 CA343723686 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f5de62e-37a3-40df-a9c9-d89de543d12f CA343723686 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73e085ec-9ee5-4a80-9195-26c47b688b2d CA1244037 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 885940cb-66f7-4ebf-941d-34ae2c4dd700 CA1244037 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5fb0dcb-4487-4ccc-bae7-1bdc695b4f59 CA343723116 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0a3971e7-10f2-47cc-b463-5d2d8270af4e CA343723116 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5fc633c-6282-46fa-8b1c-59127e3447c7 CA343722865 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dbd42074-64cd-4ca9-b7d6-fa4af066822a CA343722865 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36acafb0-b319-48a6-b5a0-c356833cb0c7 CA343718550 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73ee2435-05cf-4571-8466-213ef221ad75 CA343718550 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71e14f36-b23c-4f82-b84a-a64f38f3fdea CLINVAR:293712 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 51160e7d-ffac-420c-bca3-91035d12f483 CLINVAR:293712 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 788d925e-f9b0-4a1d-bc20-1e4c25401717 CLINVAR:133063 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a71bfdf8-b0c7-4d7d-962c-6bf6235e1c07 CLINVAR:133063 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82566c62-0582-47be-b3fe-68d2d2611264 CLINVAR:133059 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c7c071fa-0d70-4eb1-87f0-0d6c31e8a2d5 CLINVAR:133059 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fca0a42f-d428-4f9d-ab7b-7e83f184a479 CLINVAR:133069 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d1ef2a45-4097-48df-8665-bce6624163cb CLINVAR:133069 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d8a06fa-238e-4685-99f6-f9d76a91d246 CLINVAR:1213826 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e5c6652f-a2c1-413e-80d4-bc9f2aac4522 CLINVAR:1213826 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98244a06-50a7-40e4-802a-9dc041010e9f CLINVAR:224402 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0faac819-5a63-4524-9fb8-bd2bdda07b01 CLINVAR:224402 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee7d0597-6e29-45f8-8b41-2c06b467fd33 CLINVAR:1018682 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c2d8fcb5-55db-46e9-ad20-d8eb372f40f0 CLINVAR:1018682 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bad89c2-06e3-49cb-a2e6-278e039684ad CLINVAR:141972 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9c728152-feef-4e01-9d3e-e397868f5bfd CLINVAR:141972 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56d61131-0815-4df2-b01f-591ec7013ecb CLINVAR:830187 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e3c79fbd-95ee-4d31-a6ec-3a2c93a7a9f2 CLINVAR:830187 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8300af94-2a8f-40eb-816a-83239f7fe410 CLINVAR:232594 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3ccb6439-b401-45fe-96ad-c7a2087cebbf CLINVAR:232594 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f0022f7-6573-48bd-9c0f-247f1b4ed520 CLINVAR:492220 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a164a4f-d808-4a33-a905-f1c1c5889502 CLINVAR:492220 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed2f46ad-064d-43cc-9f66-336a9ef9f620 CLINVAR:944799 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2dece13-44cd-405e-b8e1-5cd9fbca3e9d CLINVAR:944799 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d43fcfc2-65a1-4d62-bfce-c7c9f283934c CLINVAR:580962 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e97ccd97-97a8-4956-a692-48f2c47c739e CLINVAR:580962 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16828c80-38d0-402f-86d0-a2d99e281f8a CLINVAR:241572 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7f1cc852-b061-4f4f-9d95-49a864e410cb CLINVAR:241572 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f95dc439-834d-48bc-8407-0a258dbd7a74 CLINVAR:657328 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c3004671-2866-4040-ab51-e818a4997f7e CLINVAR:657328 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 847c768e-bd90-49cb-9398-ac101324c32b CLINVAR:818335 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9c86561a-c29f-418e-887a-c126930b97c2 CLINVAR:818335 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ffa1374-cd35-40ba-8b08-01adb1602f46 CLINVAR:185108 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f5a750e7-506d-434d-adb9-b840deef3945 CLINVAR:185108 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 308c8783-b098-42d2-9ee2-20096653b65a CLINVAR:126609 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e3043764-5452-4f5d-9942-3261519b9132 CLINVAR:126609 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adf58cf9-003e-46da-9fba-9f1adad3820e CLINVAR:482029 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e2dcbb5-9aff-4dca-bcdd-71867d97bfc5 CLINVAR:482029 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d467305-d8de-4e91-a716-1fe7213df202 CLINVAR:143966 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 63e7a96e-0731-49aa-a80e-3da08c9a8982 CLINVAR:143966 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11d3e715-e757-4bdf-b01e-60a1641ead67 CLINVAR:186990 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5687c03c-eb4f-4566-b36b-ed313c3f338b CLINVAR:186990 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb952906-d704-42ef-9618-bfd900e9502c CLINVAR:126660 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cd92e274-7315-4ee9-95cb-e5be8b990339 CLINVAR:126660 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d00d74c-4fc6-422c-a662-b94627d66f4e CA395121845 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 04e0155c-89d5-4202-9f2b-632a2b85a23e CA395121845 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e778a18-ed7a-4d9e-8e5c-5031b64ad59b CA915941070 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d541945a-5876-4cb1-9404-c6bcda7fc6ba CA915941070 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaa5676b-249b-463c-bed6-bf4eb0346318 CLINVAR:187262 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc6b09b1-08d5-4f4c-97ac-4973f59a5ba3 CLINVAR:187262 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8ef8071-1ad9-4e41-ad6b-fd253040ed79 CLINVAR:232977 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 316e2aa6-cd82-430d-89d9-f11fcdf5ed57 CLINVAR:232977 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc13b3e4-da59-48cc-b4cf-580a060355b0 CLINVAR:126711 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eeda5dd6-8214-46d2-bc17-30f552b07dbf CLINVAR:126711 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3603ee2e-6042-4580-89d2-8002a44569f2 CLINVAR:126737 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ad8d05a1-b911-475d-8b98-48348dfa9af9 CLINVAR:126737 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ec477c1-2208-4194-8f89-0503344544eb CLINVAR:126739 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6f50a128-a88a-4b16-8896-d9a02a061179 CLINVAR:126739 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28cea8a7-0fed-4b73-ad7c-93d8f4c108be CA915941064 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0a4734ac-c3ac-4849-97d7-b5435bf2372d CA915941064 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3366cca1-b95e-472b-a507-800fa0aeefa3 CLINVAR:128144 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen afdc3665-beb4-45a4-959e-8c66ef6128e9 CLINVAR:128144 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2d558b5-2bf4-40b3-9244-e17d1adf22ea CLINVAR:186820 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4a116997-7607-4aa8-b27b-7c4c014022af CLINVAR:186820 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 421e0d1b-433c-47ef-a814-c4cfbfe73830 CLINVAR:461007 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c9aaf96b-2bb8-4cb5-a73f-cad857928e95 CLINVAR:461007 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1476b292-23a1-453d-babc-584d6dd3f59a CLINVAR:484222 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 367e5b71-9bc5-483c-a064-8bfef9ebfec6 CLINVAR:484222 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85cdaf60-9b1e-4b68-896b-8450cc9dd7de CLINVAR:241571 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f2c20caf-4b71-4caa-b0c0-32cf6bca96d8 CLINVAR:241571 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8249c060-10a2-444a-84a5-88b7aff54821 CLINVAR:410148 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 914c875b-7ce1-41ed-b8b4-c9461e82735e CLINVAR:410148 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7d6295d-b58a-4cf6-b72f-dc299d637bfe CLINVAR:480243 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1e9e5d47-047f-4bb4-8333-fc6edae0a08f CLINVAR:480243 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f34e10e-2cc4-4b88-8060-ff939d76922e CA399789759 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 165f6df1-98cb-4dc7-93b9-aa50a140943e CA399789759 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f067542-b9d6-4974-81b2-56bad4421d45 CA399790478 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b4cbe9bb-fd78-42fc-aba5-a3ee24742865 CA399790478 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebc98497-b013-4be7-b0e2-00767f0092be CA399805805 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 10bc5327-d8c2-462b-a4d6-2d781ed9fe0e CA399805805 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cf6c740-3e2e-4404-8b48-7727b9fcecb1 CLINVAR:374016 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 409f00dc-b560-49dc-be21-8446e1952698 CLINVAR:374016 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ddfd798-b9c8-434c-a634-b8c982ad0993 CLINVAR:374015 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ceea080b-ddc4-4163-80ce-b54e5a3bce19 CLINVAR:374015 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ffee929-4d83-4b45-abb7-86cac05e2b33 CA626379036 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 593fb741-2d94-40a6-ae43-9c75065d9023 CA626379036 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e85a219-b612-4736-ac1f-780b73347dbf CA400028186 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b9a1d6e2-5e72-4bdd-a6b5-7dc41c2206e7 CA400028186 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9821949-7366-4773-b930-07705251669d CA8622972 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b3141b66-0eff-49c0-9515-5c6d9372ffca CA8622972 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f50d5665-81d4-459b-836a-e845f1eaaef5 CA8622859 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4caa8d5c-6905-4680-95ce-6e684135d725 CA8622859 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13fcd746-5638-461e-909b-6a50fc80780c CA626684826 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6ff76856-b80e-4119-b228-f08e3098bb66 CA626684826 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17ea3507-6dd7-4582-a182-1a11d2f93fd0 CLINVAR:133058 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f55ba5d-0824-49c4-ba48-bf068e1dfa33 CLINVAR:133058 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fef7c52-8acb-4f34-83a9-ca744bbf5494 CLINVAR:474888 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2c278148-e751-40fc-bd53-d1ea2603b85f CLINVAR:474888 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae175da1-a3ed-4346-bfc4-63c506169350 CA891834518 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ea549e39-28b9-4a33-bce7-06a31590e87d CA891834518 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b55ac427-5401-47ba-af31-67dfba2951e9 CLINVAR:932828 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8b676075-b765-4763-a5b6-357bc4483ba6 CLINVAR:932828 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6aad6446-0184-4a46-88bc-68d934f8a34e CLINVAR:252000 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bf5a65ff-0a2a-4001-bf72-7a1f29c0e38c CLINVAR:252000 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8524f97d-d6a1-470c-a52f-58f4dff0fdf7 CLINVAR:406163 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c40d6b5-0e8e-4f42-b500-9f02f2dc165f CLINVAR:406163 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d10baf81-28e1-43a5-acfb-fe5929a7d4d1 CLINVAR:226343 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 60a54484-c6b6-4df1-889d-e1b7bbc50542 CLINVAR:226343 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 211640e5-eab6-4838-96ee-2ea1a5ba5564 CLINVAR:689349 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 01fde19b-1ff0-47ba-b5af-eb648f327c98 CLINVAR:689349 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bfb4dcf-8559-488b-9c6d-63297e59da90 CLINVAR:440698 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 592be395-f0a7-403e-a987-f7eca6aba9de CLINVAR:440698 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f510b11c-876b-4078-b415-bb353933c479 CLINVAR:440697 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75b40e7b-2969-4433-87d5-f08094a68383 CLINVAR:440697 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0b8415a-4ef1-4e9e-b7eb-048be4e43ae0 CLINVAR:252321 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f7c0eb2f-ef94-427a-ad88-5e6ed333851f CLINVAR:252321 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 488e4164-566a-4fc9-ad87-c215eb9e7b52 CLINVAR:251850 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2131d303-bfdf-4a8e-9a47-cfcf1269449c CLINVAR:251850 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2acfff4-8d05-426b-8243-db75bfa65147 CLINVAR:440645 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 64cec30e-ec5c-4805-b27d-581dd178ebff CLINVAR:440645 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 713e745d-5b30-4db5-9d16-3285b77f20e5 CLINVAR:251847 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6f256785-bf22-45e8-9ee0-d5584458d7c9 CLINVAR:251847 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d09d06f3-99bb-4138-bffb-6f2b88c6b7f9 CLINVAR:440646 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 849a62ea-a032-494b-9bd7-10672703a7cc CLINVAR:440646 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 370fe000-31f3-4eb5-9952-ef5d0667409b CLINVAR:430740 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f7e7e6ec-62fd-43cd-9b14-2d9b1f347d3f CLINVAR:251649 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d9dfbab7-3781-4b7a-95af-0b325302c730 CLINVAR:251649 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05ce941f-45c6-445e-8425-e0208ebca7a8 CLINVAR:431519 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 134d3099-99cf-4ab4-9e2a-8260282696cc CLINVAR:431519 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7a6d767-5152-4b26-8c8e-1d712bb7d114 CLINVAR:251651 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ac599c3d-c8d7-44f4-946b-55c56e2ac592 CLINVAR:251651 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d903f7a-5b18-4596-8350-261a2785d384 CLINVAR:431508 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 483ee45a-ac06-4a70-94c6-e25e75393121 CLINVAR:431508 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8510417-e00d-407f-9b0a-78e1110e909b CLINVAR:251127 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 100b0500-0c0c-49a8-9e90-2961caf2d5cc CLINVAR:251127 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a6a53b2-b62e-4454-aac4-e02201406736 CLINVAR:251537 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 857bc3fc-e77f-4551-9086-8bd3d7f9c612 CLINVAR:251537 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53436ed9-ea63-4219-b637-7569eca2f836 CLINVAR:161280 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad45d877-cc65-41a1-b037-490e05b1aed9 CLINVAR:161280 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70d593c3-e750-4d27-a132-4a0683627335 CLINVAR:251519 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 67643bc2-7dd5-4343-b1a6-1522d8fabe53 CLINVAR:251519 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f0c74c2-33fa-402a-8214-97259ff616fd CLINVAR:1437514 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ceecbf23-30d4-49f7-8a64-399d08c42274 CLINVAR:1437514 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc4287b3-17da-435e-9077-924830723cf6 CLINVAR:251521 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b02c471-d5ea-4a36-8d87-12cb34a92dc2 CLINVAR:251521 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df0bef97-db12-4025-83e9-749f0df27152 CLINVAR:251081 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 20e4c27d-1cd2-413d-a3f6-8ffab4f9732d CLINVAR:251081 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a644c658-c6c7-4b65-b9c2-8ebd427bbbae CLINVAR:1331775 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3840b620-1520-444f-b4b4-9f81f55e89a9 CLINVAR:1331775 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4839fd35-57eb-43db-a603-9652c74baac2 CLINVAR:251362 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3869bd21-1c4c-4c1b-b2be-e8c57b14ba65 CLINVAR:251362 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f64654ad-399c-4ac8-9ada-60dd93d71440 CLINVAR:440599 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4a194eb4-7471-4e62-8047-9dcd31043dea CLINVAR:440599 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a51c5efc-77c7-4184-8c8e-3a13a568f8e1 CLINVAR:417370 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba8bb05c-0d55-4012-a1dd-4ab038745dee CLINVAR:417370 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 725bcff1-f9a6-42ea-8009-c8bd2f0ec44d CLINVAR:369855 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 500a9e44-1193-4c4f-a4d1-2f171a2d2c06 CLINVAR:369855 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b31da9a6-79c0-4051-a0fc-17b3577a423c CLINVAR:431513 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f2795d7c-20e1-4a03-9581-56b33c18223b CLINVAR:431513 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34c11618-25f2-47d2-ac46-d409543f2100 CLINVAR:251223 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c96e5734-8f93-4b44-8138-4b0e73f31c39 CLINVAR:251223 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9446c224-c0a2-4a8e-b0b3-3a596a2607b1 CLINVAR:183098 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 84a8a645-b1f5-4a05-80ff-305726dc893d CLINVAR:183098 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9373340d-d624-40dc-a5d0-8a064d1f17eb CLINVAR:977996 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a8a10e29-1c09-4aaa-a05b-a72d098c7097 CLINVAR:977996 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24612032-ac2e-4663-a737-f2b75e6df98e CLINVAR:977997 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 49c4bc74-373c-440f-87fd-1e0c2057805f CLINVAR:977997 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f92d27c0-4178-4d00-8e07-03814cacdc96 CLINVAR:1466547 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de66f195-9968-40aa-b6bc-4e80da7d90bc CLINVAR:1466547 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcf54937-334e-496a-8073-302fdcbb25bd CLINVAR:431547 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7e4e1cd1-9a05-4328-8030-7adad4ad283a CLINVAR:431547 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54542ee3-02dc-4419-ac32-a5bcf3b9d72c CLINVAR:251691 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c9f03295-c6e7-4220-82f7-5ad3cb775441 CLINVAR:251691 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ceddc85-23c5-4d71-ab16-0e4fad000362 CLINVAR:440626 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b95ee5d9-091b-40e1-9a44-faf70231c16a CLINVAR:440626 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 593ba302-3027-46c1-959e-94935b9ee885 CLINVAR:251692 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 70a51870-7751-4dbd-9a7d-24a65a7449c9 CLINVAR:251692 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f955346-ce89-44a5-a63f-533fa4eb9864 CLINVAR:252120 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f10ee1eb-adc3-4073-be03-919beebeaf9f CLINVAR:252120 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6aaeecd-5208-42db-93a1-39ef477af955 CLINVAR:183106 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f81dfbc8-85da-4871-8d98-3ec069d7362f CLINVAR:183106 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aab22fb6-8ad1-4870-a7f1-2cef3980e372 CLINVAR:440618 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 957eff92-9987-4155-9e3d-2642e0afa43c CLINVAR:440618 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dfc70e9-2015-46b9-b79e-656b97887300 CLINVAR:251605 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3fb8e990-e61f-4c43-aeae-0d2076fac687 CLINVAR:251605 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c099f771-f880-40d8-bde2-b508b30dabdb CLINVAR:251406 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f59be78-782f-4746-9434-34a0b49a484a CLINVAR:251406 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c08b9a07-d926-4aec-a6b1-37d8d1e12be8 CLINVAR:440623 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5620be5b-234a-458f-a188-b1c829d77798 CLINVAR:440623 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f872e533-2027-446f-8027-f62f1c5fc034 CLINVAR:251645 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ac0d70f6-1ac9-4f70-a9c0-ff1d25bdade6 CLINVAR:251645 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9e9471a-b230-4631-b715-dbe2228533f9 CLINVAR:183114 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b3b6de0-c837-46c9-927c-b9d414f4daad CLINVAR:183114 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42751220-666b-4f50-a212-d37beacd553e CLINVAR:226332 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b07bef3d-fc2f-4e62-af87-28f9d65cb3ef CLINVAR:226332 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1199e3a8-7787-4309-9cf5-7767f584198b CLINVAR:251735 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d54e86d6-04bb-4704-8d47-bbdbca58ebdd CLINVAR:251735 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7d51ca6-ba8d-4593-a72e-6b47092d4012 CLINVAR:431523 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f9cae4b7-0c6f-4ce3-9486-d45c776e60e3 CLINVAR:431523 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bc7b220-a63c-4a55-aa4c-04575ea4b9b2 CLINVAR:369861 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b5e9f16-1296-4d43-b88f-208c2cf5426e CLINVAR:369861 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbdc9f56-a462-42cc-aaf2-bfc022d38eaf CLINVAR:252033 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 44bc5c91-03ac-4ad0-aaeb-2b02e3989e2c CLINVAR:252033 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71a7faea-d388-4481-9531-c3bc334cb29e CLINVAR:252032 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b7ab3e9-52e0-40ae-85c7-f057c327a26d CLINVAR:252032 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f764e81-7200-4460-a1da-692cfe77d6a3 CLINVAR:226402 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6b6db511-c9c6-442e-825f-2b037823937a CLINVAR:226402 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49a9552e-557f-4b96-8cc7-90ee964918b0 CLINVAR:251425 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ed0fe243-9ec4-456c-86ef-25f3afc10a0f CLINVAR:251425 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20449616-e5e9-4717-bb01-df33d9f6ecc9 CLINVAR:251121 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 73d694c5-20ad-47ba-9901-ea31b7020538 CLINVAR:251121 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe076aff-c36d-4b37-ab6e-239e88dd3b04 CLINVAR:251122 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f818c24c-63ba-4559-afed-bc7286df4b86 CLINVAR:251122 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 062889ab-cdde-4bca-9d77-ae186078eb34 CLINVAR:440556 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2289b96d-a5af-4d6b-8651-bb0e771fbd27 CLINVAR:440556 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a960e1da-f028-41c4-9658-5c63ede0583a CLINVAR:251583 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c75a99f-7ce7-4eb2-afbc-030b1c3b61b9 CLINVAR:251583 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ca0dc78-a5d7-4605-9ac6-d3590354cf15 CLINVAR:918325 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ec092aad-ce09-41e5-804e-ca2e6613ed7b CLINVAR:918325 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e8397d2-28f0-4ad1-8768-59092c790cf0 CLINVAR:403665 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ccdbdc78-f35e-42aa-ab5e-a5402ca99f21 CLINVAR:403665 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82ddaa8a-b178-4ed2-a020-f3ce2c7bc46c CLINVAR:36452 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9c0cc846-f4cc-4f64-abd1-6eda9d6dec99 CLINVAR:36452 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10a3fafc-9665-4f96-a8d9-865e7561d292 CLINVAR:183083 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 28588873-aa8d-4468-b5f0-bcfe8d65c28e CLINVAR:183083 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 021e1b14-44ad-4fa1-a231-ca26607df382 CLINVAR:251088 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 101ffde0-a2ed-4f06-b361-a27e1f965af9 CLINVAR:251088 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 327e5961-9309-41c3-8bea-6f3c8419bded CLINVAR:924271 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5991bb33-f45e-4cb1-8317-92dfe6c234a4 CLINVAR:924271 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 645fb3fa-f995-4118-a4c9-67774e464210 CLINVAR:251828 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e3c6f5c1-b22e-4a32-80f6-f121592f57a3 CLINVAR:251828 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 021e1a1d-3975-46b9-ac7f-ac8a22b19d11 CLINVAR:251894 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 12a71bca-0d1f-4697-b2c2-9668e28ac230 CLINVAR:251894 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3476ad0e-bcbe-453e-b029-98b1536ce7ab CLINVAR:183105 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ac252157-f4c5-4796-8a58-f535bc018870 CLINVAR:183105 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dd97d10-cca5-4c54-bfc5-4fbd5ff9db75 CLINVAR:926520 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6d4147a0-9337-4744-9d41-baeeed6816e3 CLINVAR:926520 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2cd4813-7e32-4a4a-b04d-45c53ea76267 CLINVAR:225181 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 13b7e471-6c16-450a-87cf-9b491744829b CLINVAR:225181 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ed09e98-d297-49ad-a057-022e4a8e64d6 CLINVAR:251587 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cadf665c-47d0-4139-965e-2956184d526b CLINVAR:251587 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f1f221a-42df-431a-a700-09ec690f4ee6 CLINVAR:226299 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2866e4b0-614a-49a3-8d81-b97f9e354ce2 CLINVAR:1395739 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bb5b27e8-b341-4b02-8997-bc7c9f0611e6 CLINVAR:1395739 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54061a3c-5a38-41c6-92f9-fc704655b9d7 CA343719449 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53431e9c-efa5-4b29-a554-819951f4b477 CA343719449 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dab9504-b576-435b-ba9b-e873cb624c19 CA343726991 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f11a25d4-ed4f-41f6-991e-5db654dafdf4 CA343726991 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 551e1a73-57fd-4665-80ba-62b5cbf717d6 CA343724686 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb3f94c9-0b96-44ba-9965-2641d30aec2b CA343724686 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cca74b6c-9f93-4419-80d7-feb7549b84c1 CA343724606 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7ccefc74-be64-4126-a7c6-d1864f85c5f1 CA343724606 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d28e955d-954c-4677-bce2-e971b4a1653c CLINVAR:806282 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3973c392-d835-48be-be2f-70bc620d3850 CLINVAR:806282 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c31935b-157b-4b47-9958-c463021613e3 CA343723939 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba74ef61-d69e-4bb9-a5fc-6c7635c305f9 CA343723939 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05449570-b05b-4659-a5d9-b99de3efc12c CA343723671 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de466692-44a8-415b-95ac-6db2af5b59f1 CA343723671 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34529b57-e5af-4ed9-a703-570b3a7b4007 CA343723526 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b0654c6-c611-439d-afb4-61460524871d CA343723526 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f09eeb3f-2147-4cb6-a8f9-fcad0c10a4bf CLINVAR:875032 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 83079faf-623b-4f08-8130-f3ff7ca844c9 CLINVAR:875032 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2939e1a1-d115-49e1-8a19-f580b6545308 CLINVAR:1173106 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c9df5eeb-4da9-46fa-91ed-56f05632927f CLINVAR:1173106 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a813f1b-6d18-419d-85bc-27385845acc5 CA1244341 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73557b52-d2fd-4de0-9e4a-bfc5df2f517e CA1244341 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 017ad733-5aa6-4b0b-8dcc-1879481a7614 CA343722726 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8f8534ae-e8fb-45e8-9d1a-ca30466f1b2f CA343722726 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9695d23-4d7d-406d-8623-3f6354cfbf98 CLINVAR:1048923 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 25a364a9-554f-4d53-9903-a011c2cd9f4a CLINVAR:1048923 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eea24aae-2cfb-4d5f-8c54-78d7bdd217a4 CLINVAR:1302992 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b47f3b7c-3abb-44dc-b0ca-9c7e0a123ed8 CLINVAR:1302992 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf53f619-7820-4d9b-868e-184334a2fe49 CLINVAR:877000 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1ddb03b5-ff1c-4a74-90a8-29a3289a4f6d CLINVAR:877000 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e80a682f-2b99-4288-9629-b5a30bd867ad CA343723197 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5432c26-d5a7-40d8-bf12-5990fbbffc15 CA343723197 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61289869-7de8-47d9-aef8-019ff648d69d CLINVAR:431972 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 77d6caa5-a072-4a3d-af6c-a3bf0937131e CLINVAR:431972 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb3dc0d2-a1e6-46fb-a8ba-bdfb32985fc9 CLINVAR:133976 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8e57c0d-47e2-4db4-a39d-7ebc9e88675c CLINVAR:133976 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 841965e1-d343-40dc-8927-effa0cbc1a72 CLINVAR:242139 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 49122c86-5458-4042-abfc-9b4c4b174e56 CLINVAR:242139 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8e32217-ed74-44a1-8f52-62ddbe2e34e0 CLINVAR:479634 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 90e13ea0-51f0-4b0b-aa27-c08d3a910165 CLINVAR:479634 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdfb747a-315a-48f1-ba17-799cfafead19 CLINVAR:825798 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 036dec0c-182a-42f3-b92d-6f6c24e27ecd CLINVAR:825798 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d9e67e6-6113-430f-8f9d-da5c7abc48a0 CLINVAR:825790 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 402e6491-f6b2-498b-af0e-5f6e00a48a52 CLINVAR:825790 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3d249c6-0c7f-46fc-b9d4-8775318c7afb CLINVAR:825823 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d15a2985-5d91-495a-a700-582cdec5ca1e CLINVAR:825823 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc395e2b-4657-475e-8890-9c0d79d64f6a CLINVAR:479625 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4fb591c3-3557-4a88-8728-18b8d0fe709c CLINVAR:479625 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 349bfcba-b5f8-4a2c-9242-2764db415411 CA915940290 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ec35e576-e213-4801-b2f6-14469eadb8bb CA915940290 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95c8c092-8b1d-47e6-818b-9e6f44528dfa CA399801154 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 913ae0f6-d471-4f2d-a604-21b964308b6b CA399801154 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 870ddffc-f583-4448-ae82-44dc8964091c CA399795582 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e6fff7e5-f85f-4c59-9eef-d5ab7112410a CA399795582 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e66951c4-8e22-41e5-bc6b-880be479455a CA399803370 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3ba14bae-f184-4365-8354-a2e5f40e0f91 CA399803370 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b86e6a58-9886-4f78-a460-830a2fbd9d83 CA915940265 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9f8a0ae1-c7fb-4272-b179-365c294ac9ad CA915940265 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be688885-69e9-46af-b10c-1003a8981da8 CA399805578 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8fac0ca-0867-4f31-8838-86f254638d37 CA399805578 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22c57bc3-cf84-4849-b23a-29f8e821455b CA400022111 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15dd4649-9af7-4963-86fe-16f2df15922c CA400022111 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16c1aa86-b927-45b5-b5b3-1b3bcbe9f925 CA400033092 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 97eaf1b1-c940-46c5-9ae3-e9da2c6dd0ac CA400033092 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bd87cd9-581f-4708-bc6c-9362e44c1353 CA400023428 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c5034bbd-c478-440c-bb7f-39980eb7df27 CA400023428 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 811a3c5a-3d79-43df-9d27-af5f6b471917 CLINVAR:9590 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6c188ad6-9aa6-4ce0-928e-7fd0fb7d9822 CLINVAR:9590 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34780e7a-58ac-46c2-87ac-061c5f6d232d CLINVAR:30004 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d271bc3d-a48c-4e7c-99e2-14307547c4ce CLINVAR:30004 biolink:is_sequence_variant_of HGNC:7487 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bcaa694-7c34-440a-9472-a044d0608675 CLINVAR:9569 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 36042c48-362c-4d72-9c19-07365d54a731 CLINVAR:9569 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45d2574c-60cc-4064-b145-aac85501d66f CLINVAR:693062 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1620d345-92c8-494c-88d9-f42356bb2925 CLINVAR:693062 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8a746e1-a7ac-450a-8aa5-39959e59619e CLINVAR:9722 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 750e9dff-8325-4ed4-8a7a-87d4b1980515 CLINVAR:9722 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8c6164f-ddbc-4591-b443-f00e81706d79 CLINVAR:133144 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7500b3fe-b5b2-49db-a92d-62e6d97ad3b9 CLINVAR:133144 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7097a1ac-84a8-4453-9f79-989ebfdb2be0 CLINVAR:932844 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9ecff15a-9e71-46b4-83d5-f5e933fd7750 CLINVAR:932844 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3229af39-b579-4e41-bccf-aa12918e7bfe CLINVAR:810628 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac30d97f-cc05-4325-9014-4da193e2dc33 CLINVAR:810628 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82a32da6-16b6-427c-ba32-f33040a0a146 CLINVAR:1312506 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0138420b-5535-4bdf-b17f-44db39715ceb CLINVAR:1312506 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fdab280-d0a9-46ff-9111-b7953c9526de CLINVAR:8304 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fc33aa9c-8a65-47ed-9daa-d68a7dc353c6 CLINVAR:8304 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fc2492c-8d44-4f01-9d58-4ac68566bfa6 CLINVAR:1067935 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c6cdb5da-50d1-4c18-a78f-d437853f94b2 CLINVAR:1067935 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c823170a-4a4e-4a8b-a6f6-a1e676db2807 CA402994004 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4535756d-e60a-4bff-8dbf-edeb5e97bd35 CA402994004 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aafd1eb6-dc93-4921-ae0d-fc0ecfcb4bf7 CLINVAR:939221 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 51a493d6-b368-4086-8a8b-4a759f694bdd CLINVAR:939221 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a8f708a-6c85-4d7b-a7af-a5191282e11b CA504731701 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 783bedb2-b2dd-49e0-be58-059f64e763e6 CA504731701 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4354e75a-63e7-4d46-945f-31fc9e3fd55d CA402990982 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 45560ffa-a667-452e-8791-76edaca12586 CA402990982 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abead5c3-0ad8-4197-b696-8245ab0c571b CA2579753928 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 87577534-1928-4787-8ece-0cf7821b0516 CA2579753928 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 041af5df-e45f-4181-8a2c-4ee7f5e44d31 CA2499307108 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 00c90bb4-2981-4f29-808d-9b82a901b7f3 CA2499307108 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ff4784c-2039-4af4-9bf7-491c6990b6a0 CLINVAR:8303 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cbdebbde-b0aa-4d05-a023-49fc23b5a02b CLINVAR:8303 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45cdd22c-7d50-4cfa-b8c2-555bfe0932c3 CLINVAR:947458 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c5c7e440-991f-4c8d-b74c-0c6d6fb46ac2 CLINVAR:947458 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cb66197-49bc-4198-b160-fcb2285f7e79 CLINVAR:449690 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 969d07b9-214f-4daf-aab5-2cf9bb70fbf1 CLINVAR:449690 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aef7d439-6c93-4100-92ab-f9f48ff28179 CLINVAR:1361089 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 42df5b4e-6949-43c1-946b-3a2e0feff121 CLINVAR:1361089 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e2c1f91-885c-4f75-8a1a-2688021bcfe1 CLINVAR:2136533 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fcc1da0b-4ab6-489e-b982-6c8b6cdb54ca CLINVAR:2136533 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34df15e3-53ef-4773-a77c-14f6e36c9186 CA2018007653 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 08ce7d46-d2ba-47b4-908a-005a9ee9944f CA2018007653 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc60a929-e2d1-4ead-952f-3ca01f5ed3ab CA367401305 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9fc09e45-71d9-401d-851d-ecf2a014bb01 CA367401305 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb59de4a-58b6-4fca-b8a7-ede5a08502b1 CLINVAR:36224 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5a6d08a7-1292-47cb-97bf-050034239991 CLINVAR:36224 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9c422bf-a964-4e5b-904f-65a5d1c4d3df CA367402542 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ed6bdbf8-755d-4c7d-9447-1e692248ba7d CA367402542 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8899cbc1-ff7c-4418-b125-d3ac01e095ff CA2573102977 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 89a3bb1f-ef98-4914-9b94-6a138be5a4bb CA2573102977 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75626d5f-3aa3-4bb2-9fc7-5bec4191daef CA2573050986 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen abb338e3-8caf-4182-abb7-4d51610863ca CA2573050986 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dcc75eb-ea8d-427a-b4d5-edc16e423776 CLINVAR:1299751 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2f6a3aef-95c3-473d-a12b-ffc31eb4a6cd CLINVAR:1299751 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f2ba513-2935-4287-b221-c01d1d1e17b6 CLINVAR:1299750 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 730e5270-52a1-43b8-9801-30b7a68df5fa CLINVAR:1299750 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fc3ca13-eca6-48da-9812-ec2ef8c16d9c CA409103994 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a51d150-934c-4633-ac60-17c8670c557f CA409103994 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18dcca6f-9b49-4bb1-b08c-213f38c0b58d CLINVAR:393110 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1ae5749c-fc57-44c2-930e-153b64a04fda CLINVAR:393110 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9793955e-9d7c-407a-9623-f22214336380 CLINVAR:447515 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c579da76-d065-4c3c-b2d3-b1bfaa222509 CLINVAR:447515 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82799ee9-cbed-45c2-a83a-44d8278d4cb4 CLINVAR:36348 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7666f8d0-4ff8-4a73-a3fe-1515d8d5b702 CLINVAR:36348 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b304bba9-47aa-4ff5-b1b0-38474394ef4c CA409104377 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ba4fcec9-adb1-4c9d-967c-04f5d7c5f8bb CA409104377 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79ed027c-c073-46e7-86dd-c1e8d1e3bb72 CA409105868 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e7012ace-c951-4131-be13-699f17896d3f CA409105868 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 929167fc-7180-477b-8e4f-115dba92e70d CLINVAR:9215 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5d91fe5-78ea-4e08-822f-b9fed6b9788f CLINVAR:9215 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8369ecb9-7af1-42be-bf43-38e9db40d6dd CLINVAR:36356 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 769940fd-466f-416e-a700-600b5d12f3a0 CLINVAR:36356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 193fb098-b3ac-458c-981b-2a5dd3591ae2 CLINVAR:1700660 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 935921b6-4cbe-4d64-98f4-bd4c9140c598 CLINVAR:1700660 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b665e865-31a4-43d1-8090-16965658472d CLINVAR:586021 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d4d41363-03d8-4de1-bfa1-3a689ce267a5 CLINVAR:586021 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce04e629-8ab6-48f3-ad2e-b9967a6ef421 CLINVAR:972810 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7f0a798e-3493-42a5-818c-c4ed2562ee5d CLINVAR:972810 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19f04002-45ad-46ec-9e8f-b079de0956d1 CLINVAR:36344 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a7be8e2-d221-415d-9312-c822781d7f1e CLINVAR:36344 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95e3c3d3-b628-4d11-b4ad-5e79f4b9636e CA409110466 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4423daaf-b47f-4826-b37b-a68c81dc62e9 CA409110466 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67550b5e-960f-4c3f-8891-4cb9d597e021 CLINVAR:875084 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 331c7688-9fa7-4e55-b2ce-ed9da95cb41c CLINVAR:875084 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcb8f390-3cc3-48ab-ae3e-1b6ac8bd1c1e CA1244285 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f0734d9f-9346-4d4d-93de-d7a1abe8bec5 CA1244285 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aee1eff1-b298-4c5a-8697-0cd762ead6a1 CA1244113 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b58077c-00bc-4e4b-bc3b-3be946f9cec4 CA1244113 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8866b2ab-f96e-4525-8b7f-4b37df122938 CLINVAR:293710 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 395e65ef-3560-45dd-8d93-5240c345972e CLINVAR:293710 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f82872e-9c03-43e0-9f2c-9071b8356a6c CA1244072 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41c48613-4e27-4f73-9367-0bb9fea0a5ab CA1244072 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4f99f38-932b-4c67-98c1-80f9de4832c9 CA1244046 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7445b744-efac-40a2-a1f4-e0502d7553e0 CA1244046 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eeae0f92-15e2-46ed-be0f-e1ea136f631d CA343723639 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 825f4016-0e3b-44b9-8094-b2317d5f3f53 CA343723639 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e8e2146-8782-438c-a11a-d1b5b6662915 CA343723002 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b22deef-cee1-4ac7-a817-f5794ba1d546 CA343723002 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d071e88-607e-4931-8535-16c189ce27f1 CA1139771053 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8e24dc99-aad4-4875-b1f9-95faa2941ca0 CA1139771053 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2300d61-faf7-44a9-9411-1d57f8630cec CA32686049 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c7e2d60d-162d-4c18-8998-5a9e61e1ccaa CA32686049 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fb97a8d-6a6c-413d-8ae9-d921e3b54193 CA343724078 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 35485efe-8eac-469b-815f-f268c0b472e4 CA343724078 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f8bc8c7-39b2-4b0c-b9a0-98090002999f CLINVAR:877041 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0e091bf2-10b1-4f61-97a1-a582e100c63a CLINVAR:877041 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a720d246-afb3-4d09-97c6-d45a660c2932 CLINVAR:1324771 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff66c461-709f-4d9a-ab96-83dd4ad33956 CLINVAR:1324771 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c4855cf-bda6-4091-bc0a-c84d880a9a28 CLINVAR:701285 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8413ac1f-e2a6-4216-96a4-6b55b684f444 CLINVAR:701285 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1dee76d-2b4f-4595-a1eb-891f1071bc28 CLINVAR:627234 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79561496-3187-4be0-b865-364679e83adc CLINVAR:627234 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc85bfd7-c079-4725-9b2a-b403d7e59fc1 CA399806497 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 27d38a46-1567-4188-8445-d30c9c6f391a CA399806497 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6c0496d-9a9d-4d1a-a203-b46220c131ae CA400034479 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen de322b41-24ac-40c8-9750-52480c168390 CA400034479 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 529f0b4d-c3a6-4053-a978-0f65e1292ca8 CA399806084 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79ac78d4-50e7-462d-a84e-884ae4196a9d CA399806084 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a861d4b5-f245-478f-84b6-cd59140e44af CLINVAR:2181112 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 61c7fd11-440d-42b1-9a84-a9dc1ae84601 CLINVAR:2181112 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fee7846e-7b51-4f1f-87cf-8445d2ef9de9 CA915940780 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0080b3d1-e861-4ef5-8929-59e43ef83928 CA915940780 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d409b388-afad-4f4d-b16c-b001f0ca5477 CA399802364 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fd277bba-7a76-45e2-a667-e16bc77db3aa CA399802364 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8f226e0-90ac-43b4-9d29-386127dcf04b CLINVAR:892302 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f90a6140-b6a2-41d6-9ae8-5d6aa3efd46e CLINVAR:892302 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a39f905d-b309-4655-bd1f-6eda3a07ea30 CLINVAR:983532 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5ee3200e-277e-46f6-8fd5-6b42bd8c2bec CLINVAR:983532 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36ed722d-7b45-4f73-8e20-c4ce601b3e2d CLINVAR:573140 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 40948afe-555d-4cb4-a33c-85ad244acef2 CLINVAR:573140 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16d27abf-a821-406a-b054-2126704c2fab CLINVAR:932829 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 87d9432c-4b7b-4ec7-8b0a-13c9d3a940f7 CLINVAR:932829 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63878a09-4093-468d-ad41-1b8b8ea6c648 CLINVAR:189008 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2345153f-cda9-423c-a90b-60605ce40ca8 CLINVAR:189008 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a98ef930-c4ed-4d3e-b056-02b44229e12d CLINVAR:2058739 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f2b0aa59-5adc-41f7-988b-e98cfe57edb5 CLINVAR:2058739 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4a2f5a1-84ca-4dc7-aca4-41066b65126d CLINVAR:1623 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bfd21c7f-ddd8-4d85-8e8c-05f20b579311 CLINVAR:1623 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1aa31f7e-2fb0-43f1-89c8-60f87b69d376 CLINVAR:406374 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen baebd5a2-5ad8-46e7-9a65-2949a6c131d4 CLINVAR:406374 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c3e3e57-46f2-4f00-917d-02a47f52334c CLINVAR:42420 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c47b019a-7b70-4fda-ad58-6375c3fe401c CLINVAR:42420 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d382729c-6847-4211-a57c-e822238f0f29 CLINVAR:426140 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d74c0b79-3d51-4734-8d24-3051fa0c2a6e CLINVAR:426140 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c4788eb-44db-42bc-b4d4-1722b89dab11 CA916084365 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b0166835-d5c5-439b-8c2b-2500253b0044 CA916084365 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a425eaf-89d0-4f39-a9e9-1bf468be1af3 CA392325892 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2f641a53-01be-4e95-96c0-1aba2ecd25bd CA392325892 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ca9ddde-e045-4cf4-81f8-91dc85e3844b CLINVAR:200198 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b03eff43-60f6-4ee3-979e-3c361745a8d4 CLINVAR:200198 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 120f4c2e-6a70-4421-9845-4a79d05a46f4 CLINVAR:431935 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d622395b-4c97-428a-8999-3dc2356cc45c CLINVAR:431935 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5e5ff92-442a-49b6-9dad-f6a94f7a7413 CLINVAR:406332 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 02808113-2eb3-4c74-a1c5-ac66b6f67a12 CLINVAR:406332 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95d21753-3169-4cc0-bb0e-d314df1deeda CLINVAR:373598 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 862df7fc-0f3e-405e-9d59-19a33de04bcc CLINVAR:373598 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c81867e-55f5-491d-9f50-8b23f3dc85dd CLINVAR:189623 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dbde97da-e866-40f2-bbb0-897b29521a12 CLINVAR:189623 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bff5eff4-c0fb-4154-aac1-ed9503e41c13 CLINVAR:217360 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 46e2cc8b-0bb3-426d-baed-9ee6e651e7f3 CLINVAR:217360 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68ff7015-bc00-4c8b-97bf-8deba078077e CLINVAR:286706 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cc256366-e91c-4883-a262-0ac367ee9a29 CLINVAR:286706 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16c7f7e7-5916-4f0c-bde7-7d4aec0f9550 CLINVAR:452682 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 25ed9b96-fb0c-43b9-afbc-f26d613b43d6 CLINVAR:452682 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f7ef89a-ade6-4a11-9d23-22e07dcd56ef CLINVAR:547390 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 14669dd6-991c-4532-8052-0fd0dfd5b9f8 CLINVAR:547390 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5363251-621f-43de-bce0-5a98801287d1 CLINVAR:658951 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d23f659f-7eb4-4633-8693-65f16a8608fb CLINVAR:658951 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81143973-9b75-42ea-8c82-8708c67e8e4b CLINVAR:803714 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 89cbe2ca-5cf0-44aa-9cd6-7e8872693f8b CLINVAR:803714 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2efd8f6c-f3e6-4d86-9c4c-fc7b7e9f8b36 CLINVAR:870171 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bc91b297-ef45-443b-aa74-8dc3c2c9192e CLINVAR:870171 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e41cc19a-949f-4116-b2e6-a968c727b08e CLINVAR:985267 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0caa7f21-d774-4e66-97d4-414c1a72460f CLINVAR:985267 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75c4ca49-b6ed-4a20-a8f7-f421bc413419 CA2573102976 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 24e82d47-bd1a-4d75-ba30-23887aab5567 CA2573102976 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b3a0eea-e439-4a33-ae8c-40277848a47e CA2497028747 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 69276035-fd45-4f56-8314-18a7dc52c7b9 CA2497028747 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3052225-307f-4f7b-a963-e06caf83ec49 CA2573102978 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a819a372-2f49-43e2-b8bf-f28923f95e08 CA2573102978 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 582866d6-ad23-4968-ab57-b6b05aede42b CA2017997780 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b4fbe819-756d-4fe9-aa05-e5b2b7c04a58 CA2017997780 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cadbc0b-51e3-4d93-bfcf-a42d220a5312 CA2017997779 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2d8adf65-5769-427a-9dca-181f5773adf7 CA2017997779 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37a10e28-94f9-4a52-8f50-0717a34464fe CA2496602227 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c4502052-346f-4c02-9129-0e1a35e1d381 CA2496602227 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a747e33e-34b9-4d88-9f7b-1b6fa2d550c7 CLINVAR:1708917 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 23bd3f06-7310-4576-ab83-b8e4e6fc4a99 CLINVAR:1708917 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8e239d8-2f47-4161-bc87-7c5bffd0ed20 CLINVAR:36197 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2730b0eb-5b66-43a3-880b-03a8f8973098 CLINVAR:36197 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9a99f2d-b951-40c4-8fc0-0051d9b5267d CA367397060 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b75b272-5a94-4784-a83a-e8db0ec57471 CA367397060 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76bd58f4-edcb-4aff-b2e2-a7d686ae83d3 CA2017997767 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 948c0cd1-ac07-4943-8360-9248a19082c3 CA2017997767 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4fd2588-a9c7-4fd4-a2f9-022a238f72e3 CA2573106064 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e700024c-0211-4ed2-92ed-74ebc380f271 CA2573106064 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4728ff99-e4f1-4084-9c74-f3a3a1793b36 CLINVAR:36191 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 506ff914-d430-479c-8126-2dbac5735f0c CLINVAR:36191 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee25f929-fca2-451a-bc24-6d43b81294ec CLINVAR:1301411 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 98defb96-0e8d-4d32-ab1d-7bff52680cc9 CLINVAR:1301411 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e350084-2830-48fb-aef4-2ce541d7cb33 CA1139771342 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4f299b1c-4a86-4121-9ed6-360829dc8611 CA1139771342 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fe7d345-6005-4414-9bdf-f26d036adfa2 CLINVAR:817706 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9b3a7ecc-16d7-428d-9a51-c30763dbfff9 CLINVAR:817706 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0e8432d-40c2-4170-bf31-2f81af09dae8 CLINVAR:597013 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 163f6cf2-ac3e-4852-a119-0ef7db5ec6bc CLINVAR:597013 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a854a22-e2f7-498c-b9de-3dcad9ecdcf8 CLINVAR:654347 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9f1e00ab-2db3-4711-8a4d-e2b0bb238d20 CLINVAR:654347 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69d2a6a0-dfaa-47ba-a33d-5fda87b53aec CLINVAR:390176 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b849d30-589c-42ea-8e4d-ac0f8f901c72 CLINVAR:390176 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3460f5b0-2df1-4bdd-b762-372e8ef90f3b CLINVAR:850340 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 231e3b49-8e32-475b-b714-43eb05863aae CLINVAR:850340 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a2dbcc9-a5b4-415f-8578-95f9f66245b1 CLINVAR:418562 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d32ecb1f-a495-4a9b-b9d2-1f85643b631f CLINVAR:418562 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e46eab2-da09-4bac-a809-891989d7f99f CLINVAR:211455 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c9a75d3-1b9a-4b87-a1bd-bd2e26b3faca CLINVAR:211455 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 596965c1-b075-4285-ae6a-802aad69d249 CLINVAR:804844 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7f7d742b-1fa3-4da0-a2a7-9b087b765bcf CLINVAR:804844 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02138776-4c13-48e5-bcdf-985ad8482b1f CA2017997776 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a3180c5e-4ead-43ca-bed7-dde27b457dec CA2017997776 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7210243-cb94-4fd8-a216-c5d6e6a9d9d3 CLINVAR:393448 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6770938a-d7a6-4293-99e9-7db964075a6f CLINVAR:393448 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cc08715-34e7-47f5-8c87-826a4cd4aaab CA2017997775 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6de4c329-1082-4060-91b8-257212e8da78 CA2017997775 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6db6660-d460-4b2a-a06d-2a1fddc00d87 CA2017997774 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e515a450-e823-4d22-9dd6-0f76288ca8aa CA2017997774 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26820d20-613d-4ad3-9e92-366993fe77f4 CLINVAR:421604 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7cc42905-d7bf-41a5-98b3-34df5aec9333 CLINVAR:421604 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f360ea18-6c6f-4915-9ca8-d5b7cca74ce4 CA2017997773 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 843df474-768e-4aa9-9735-59817147cacd CA2017997773 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3a177eb-ed8e-4d19-a4b5-b4fa72f11e44 CLINVAR:1320655 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 280d2284-7627-43b0-9bb3-b74a3433117e CLINVAR:1320655 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 435410c4-01dd-4bf8-933a-d73a86ae9766 CLINVAR:435298 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5fe77abd-0e74-4c15-bd02-3483f79e7ab0 CLINVAR:435298 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cfb728c-5795-4e4c-aca4-9ce0b06d32b9 CA2573106102 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f55ad417-7a4c-4ef2-b14e-c5284b248a7b CA2573106102 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b336040-6d69-4bec-b364-c09eeac11001 CA367397036 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8dafffbe-f6e5-4939-8224-ea8d49773d96 CA367397036 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1b30ee3-2d64-4a27-b759-081259224684 CA2573106063 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0db6fb08-4735-480e-a53e-4a82c9949906 CA2573106063 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7fedfaa-af2a-499e-8bc1-f9d6bc827521 CA367397114 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a802af21-fa42-438c-91f1-b0f4690f4102 CA367397114 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcb9bb92-57a8-4f6e-a56e-8657a525f2cc CA367397285 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 82cd1dbf-8974-4fc8-9c86-218e294e2f64 CA367397285 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b496264a-0c27-4c88-bd3d-d35eef598ef6 CA2018007672 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eb3ab042-ac8d-4728-8915-9118fe982f23 CA2018007672 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5851ec1f-1a78-4a28-9983-9f0131693aca CA367397309 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cbd64db5-72fd-4f9d-ae45-6ffc18cf3477 CA367397309 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c6dcbaf-fcb7-4866-9029-93080aca9f69 CA1139771322 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 839e92f5-d85b-4694-8487-ce65e19778d2 CA1139771322 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed4d4460-316e-4164-9dff-e110e2c9985d CA367397313 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9707d5aa-93c4-4ef6-8b30-1022f1f2bcbd CA367397313 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6e349e0-56a8-4b75-ae2c-aff760e21360 CLINVAR:252467 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05c584b8-d701-4964-9d3d-28782d60d5de CLINVAR:252467 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 325d71fc-5969-4afe-903c-9b522c277489 CA367397324 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eac5aea5-e3db-4887-8f22-40a8c10a646a CA367397324 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05533600-801a-4201-9a5f-2be6c933fcd7 CLINVAR:36188 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d9288a84-2608-4311-a86f-d4df945c9235 CLINVAR:36188 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7e11cb9-114d-461a-b75c-36963e7edc85 CLINVAR:811525 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d6e958d7-249c-45c4-bbc0-e2bcf5730af9 CLINVAR:811525 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9a13bcf-857a-4ea4-a947-6cf5702b6be1 CLINVAR:371635 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ae5a119c-05df-4a65-8b79-64a666b5ff72 CLINVAR:371635 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b215eea2-26ab-4719-ad92-c55fb8a3004a CLINVAR:932836 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2903d45-1472-4501-8b82-44d8d061b9d4 CLINVAR:932836 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a2d27a1-a636-4371-8a32-3ab3eb843f75 CLINVAR:811520 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6a1a46ab-fac9-426c-b8c4-39e03f456ebd CLINVAR:811520 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cce0731f-c487-44c8-9856-b4efbffbf48e CA1139532272 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d985e283-b194-4826-b4ef-d0d182a28ac2 CA1139532272 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82311d03-bd49-4ed6-b9c9-466ff6420fa3 CLINVAR:965068 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 864b04be-8fd8-406d-ad46-eb390ca7ad83 CLINVAR:291163 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 700edae4-1c95-4c82-960a-dffa60ab8bc6 CLINVAR:291163 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f640c47e-7f58-476d-91c5-e4464dcd9c61 CLINVAR:370981 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 07fb39f0-9e85-4cef-9dde-57217aedc9a3 CLINVAR:370981 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8019a31a-5934-4e33-8840-ab571fc51c93 CLINVAR:932832 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fc2b4942-688c-4206-b876-8080746e7bce CLINVAR:932832 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 732a0ae1-545f-4fb6-b0a2-a726cb9ab0ee CLINVAR:932831 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3812ae24-b5e1-4f2c-b099-511a95f1c4dd CLINVAR:932831 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49735aec-e08d-42f6-8a44-92baf843498b CLINVAR:656452 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8fe821f1-d927-47de-8c4c-8f0122c32874 CLINVAR:656452 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7029567-c949-41dc-ba9d-c381ea4d515c CLINVAR:932839 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e8c8840-d0ae-4a4e-8746-17c2a23d6b7e CLINVAR:932839 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da6e1bee-dcd3-4da9-9ec9-914a2491d107 CLINVAR:178503 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ef07a997-afde-4e41-ac26-ab50c541f2d7 CLINVAR:178503 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38e89a17-1547-4b37-84b2-227c93657ac4 CLINVAR:446446 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b8ab4a49-aab1-478a-a256-672f5f5d58f0 CLINVAR:446446 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d235f6f9-4548-4aa6-96fa-5b726a0bc37c CLINVAR:265402 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7fdb82c7-2be8-4369-ae46-dc6c9092bbe8 CLINVAR:265402 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3cd92d0-fe00-4178-87a7-e125e717cbc5 CA1244149 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 59ed8350-743b-4a0a-b2b8-416dd85ac8b6 CA1244149 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff243fca-7c25-4b85-9662-95a02ec5fffa CA1244148 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f562d749-f559-4117-820f-522382b3a9fd CA1244148 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10ceca20-e5b8-4f22-8668-2081bb264f8c CLINVAR:1698736 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a42bf17-5b1e-4d05-b627-af488aa2ed89 CLINVAR:1698736 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 352296fe-d332-4a36-801b-440ed4bf089c CA1244099 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen df558890-8fac-49bf-b698-435f0c06a640 CA1244099 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd99f009-cf8c-45a0-8b10-36c3f0e4cdbe CA343724527 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8003e207-b4a2-4190-b167-f51c62f16458 CA343724527 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3298973e-f9c5-4a21-b70c-8fdf7419795d CA343724521 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d97c2eed-ed51-476b-8e7b-fba7e0ded981 CA343724521 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 265f3a61-440c-491b-b8c7-45c17f90fb01 CA1244069 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b98d957-7814-42d7-a529-7b8dd6d41128 CA1244069 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f3ceba2-5bd6-42ce-ae9a-6b3cc4e02a46 CA1244068 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 028cd963-2b4c-4ebc-9b46-668726053102 CA1244068 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cec8d1f3-d09a-4e30-8257-668703714e79 CA343723421 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21730933-cea2-417c-91aa-a09e4d6a5f15 CA343723421 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1eb2478b-e5f7-4765-9d92-2e0943bc4526 CA1244017 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 72af5764-c306-4815-8ddd-9c834ac1d65c CA1244017 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c54266a-f56d-4e0e-877d-bf49a3be4843 CA421939232 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 24ef4637-d5e1-49ab-955f-36d7d46b879d CA421939232 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0027fc51-ebd7-42a6-9ecc-dc8fc1de6e07 CA343725024 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c185ba92-4b31-4db8-a6a4-5d392063bdd9 CA343725024 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d0c9766-6ca5-42dc-9e41-e42fdd8875ce CLINVAR:625855 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 17c842fd-6a85-4a87-ac0b-e1476e65fb8c CLINVAR:625855 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abd51a61-8c05-409c-8a61-0fb1b44fe668 CA343720209 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 396a520c-e03f-4a1f-8829-7595646a9408 CA343720209 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2408e98c-2dff-4e45-a550-92c5de62a0c4 CA343724106 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5af07681-4e6a-4ddf-bdda-3fbdb666aeb4 CA343724106 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bcc45e7-8938-4377-8d2f-534b0097648d CA343726305 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa3bc0e1-f4d0-4e51-a837-fbb457cecb6e CA343726305 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f9b8eaf-1b81-4674-beca-89fb688d53ce CA343726308 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68a46680-da53-4281-840f-701cce5df910 CA343726308 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 757630d3-905c-4f55-8d66-a323c1d3773c CLINVAR:21077 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 19a8aa94-01f5-43ec-a7ca-236051c2f8e1 CLINVAR:21077 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83addf3f-9611-4ec1-af1b-b196a7d291d9 CLINVAR:2169517 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a5fb5647-a5ef-49f3-94e4-1478274adbca CLINVAR:2169517 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ec1dfd6-1c11-428f-b60e-574e80808818 CLINVAR:1522625 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 55ff2eff-49f3-4ba9-b5cb-c8d4df813ecd CLINVAR:1522625 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35c55c5c-8c9e-4db5-9fef-7bea1408e9c8 CA367398617 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fe7c5f64-e515-41dc-95c5-13d08ea5fc04 CA367398617 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef1b2709-c8c0-4fc9-b4fd-d82a192ef78a CLINVAR:585909 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79f9601b-5f2e-424e-839a-06cf645571a5 CLINVAR:585909 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8faac2e3-05a8-422c-b4cc-4a705debdb0d CLINVAR:1256304 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d476ec74-618d-4bf2-b4cb-a848d795ed2b CLINVAR:1256304 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe41d8b0-0458-4bcc-8d25-2b7206cd81bb CLINVAR:447384 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7ff0e75b-ed83-43f1-a835-5230149a28cd CLINVAR:447384 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25fa7d09-fe63-488b-9623-19b96a16acf6 CLINVAR:36178 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 93a706ba-4411-4df4-9eaf-bbc8d984e2a5 CLINVAR:36178 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5f938ea-5d80-4082-8c04-f7bad4aa22ed CA367398764 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0895ea5d-9a25-40f8-941d-9596fe229005 CA367398764 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e113d5a1-f367-4057-9707-66fe7d5b9611 CLINVAR:36177 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b3c7ca16-c4e3-4b62-a3da-73b7ab4bed49 CLINVAR:36177 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d5617f9-d80c-4400-8374-e848ea16ce72 CLINVAR:447382 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 196cdb32-cf4b-4f87-b509-c271644c6e69 CLINVAR:447382 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4e5baf6-e30d-483d-9a70-3615c388563b CLINVAR:804832 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d7a9711b-f24f-4b02-8dc4-fdb7fd939457 CLINVAR:804832 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13bf082a-ef53-4356-83b1-007875a42ee5 CLINVAR:280955 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5528009e-8c6c-48a7-b9d9-f84c29eb6e78 CLINVAR:280955 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8db68b0c-9a24-4379-90c2-cd5888627dee CLINVAR:638014 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ab6ec015-c675-4c31-a08f-39f07035535a CLINVAR:638014 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07d0ef8e-7a63-40ba-bb26-f9984e5daedd CLINVAR:960182 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 693216ed-ba9c-44f9-9116-38e0dd17e88d CLINVAR:960182 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76947321-3ca5-48b6-86c8-ee41c1791b54 CA2573334965 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7364d87e-944a-4097-9c2a-6188d8ea0f11 CA2573334965 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4806eec-053f-40ce-a180-6fbfdc6a0f0c CLINVAR:1513387 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c4c057bb-91ce-4a02-9a64-1360d48a0818 CLINVAR:1513387 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f081140-dd5a-4534-b25a-7c8e5ce2379c CLINVAR:483420 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b848b9c1-3fa2-4952-84f4-4a44c10b8eb2 CLINVAR:483420 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fd39d10-4636-4079-b172-27bdecdb1c18 CLINVAR:412149 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0f96430c-e340-451b-a2b6-f234f3aa18c7 CLINVAR:412149 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b9e355b-2dae-4eff-a4ee-01506efb9435 CLINVAR:825706 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d8531b7-e4d4-4b8d-a660-66b88547f2d7 CLINVAR:825706 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71ac28f1-48e9-499f-b69d-38463cc1a5fe CLINVAR:825692 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b9100bd4-dc0b-46e3-8c0d-0126773ff292 CLINVAR:825692 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a385cf0-54aa-4f20-8eb1-8b01df904a4a CLINVAR:485537 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21c3ff77-ef26-413f-95aa-ae16e844c770 CLINVAR:485537 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3da2d0d9-25f9-4578-9e8f-ec27093a5896 CLINVAR:825630 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 710c542f-7fae-473f-91cf-c3deabe33ac8 CLINVAR:825630 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29f264a1-c8b9-4e5e-ba82-4776a3aa7dd1 CLINVAR:483441 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b1dff43-47ac-4d04-a5cc-c1fd64256fa6 CLINVAR:483441 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c470480f-bf15-4692-b8c7-175fdbb9521e CLINVAR:477252 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8c0f39b-4a3b-4d5e-9546-efccf1eb9bb8 CLINVAR:477252 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc4354a2-c5bf-45b0-b220-e82336424a7c CLINVAR:804344 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0c39b6af-ff2b-4d46-a1cc-a15c63b03493 CLINVAR:804344 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e903c65d-1bb6-4877-aa5b-5517987475d6 CLINVAR:426122 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7da6fd4e-d1c0-40d5-a12f-943b428af784 CLINVAR:426122 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dd9c479-638b-425d-b38a-d945280e40dd CLINVAR:553638 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05f70924-e39d-4da4-b905-996a5a167c7a CLINVAR:553638 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aed37bdb-3eda-404e-bf57-86fb7727e824 CLINVAR:102594 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bce763f6-c292-4b94-bc28-5323440ff602 CLINVAR:102594 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6988c363-6500-44e2-beb8-0b726fc9147e CLINVAR:102765 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8c35625a-c179-4aad-90d1-c1d27ed7e636 CLINVAR:102765 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c7964af-1aa7-4799-9323-0f210616f63b CLINVAR:102903 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f41ab06a-6625-4c7d-89e7-e3de2f9255fc CLINVAR:102903 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6069c9ff-e301-469c-bce2-c213e3b6ed22 CLINVAR:102503 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f2713cc5-f061-4e93-8665-42327513aed6 CLINVAR:102503 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 913885bb-9703-4fd7-a4e2-1171f6977c02 CLINVAR:552806 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 60bcb0e5-550f-4dd5-b42e-29e6a4361e09 CLINVAR:552806 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b063d3e1-5664-4ea9-a028-63ffd2dd41d1 CLINVAR:725756 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 457228b7-0846-4844-9c14-9f6c449117cf CLINVAR:725756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a6aed3f-21dd-4738-a0e6-4124cafeccaa CLINVAR:733267 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 69c9cfe8-0485-4247-96e6-61b26cec0d9d CLINVAR:733267 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c05fc97-2478-4c72-ac10-9c8d0547b94b CLINVAR:755030 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b2040f78-22f5-4933-ad45-a51f4180d99c CLINVAR:755030 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a31dbdc-6d18-42f1-bf79-d38f32978b49 CLINVAR:760907 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 523f9290-6fee-420c-a00d-7446ad92e103 CLINVAR:760907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d31fcec2-e726-4c46-95b3-3e234081f717 CLINVAR:883189 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed772438-80fa-4017-8976-26658baad6ed CLINVAR:883189 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07e37ae3-db9d-4357-96a8-516fe188bd91 CLINVAR:991620 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05180e7f-4ca4-4ede-8ddc-7391bb8db229 CLINVAR:991620 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30acd4d7-aa5a-48da-93f3-bebd9cd33bc9 CLINVAR:991623 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f73390e1-978b-4320-983e-c388ec735cec CLINVAR:991623 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b58917f7-4703-435c-a018-62dc895873cb CLINVAR:991624 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e978d35-c6c2-4f31-a10c-3ccfc14f4c13 CLINVAR:991624 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e0ebfbf-0c7e-407a-9d6f-785698244a20 CLINVAR:991626 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 551ec587-1b4e-425d-8308-76f5155763bf CLINVAR:991626 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abe388b0-2dd9-4788-ae6f-c11f02c17602 CLINVAR:251525 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bd2b1dc6-2965-4aec-b3a7-38fe8200f945 CLINVAR:251525 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 941352ae-2a51-490d-9d37-7d259fec2a50 CLINVAR:441199 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f5dab36-3efb-48be-9b0a-c525cac421ca CLINVAR:441199 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b57779a-f08e-4afb-a0d8-7c8410cfa614 CLINVAR:251526 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1889425c-2208-4b6d-91e7-87adfd427b5b CLINVAR:251526 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d737b49d-43ad-425f-8010-885e45486fcc CLINVAR:523725 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f1e6b167-1efa-4b8c-a49a-aae18f144d64 CLINVAR:523725 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f00b5260-dc5d-4a75-bcff-d10942a3d9d7 CLINVAR:251527 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 86057baf-19f5-4b97-ae52-5414a0a7a6ab CLINVAR:251527 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a14c1bbf-dd1f-43d0-a508-210d25d1d452 CA367401753 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8fd91fa2-18bc-4a08-9c44-0ff002bd8224 CA367401753 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76855198-a7c6-490a-8a85-572a03b94ebe CA367401755 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 24a75cc8-8760-47fd-bbb1-8e6f474e68d1 CA367401755 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74520a9f-43b6-4b50-b069-e6baf05990a8 CA2573102979 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d3bf8c32-b6f9-4fe8-aefa-4cddcfd17227 CA2573102979 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3daf9347-19fc-4e05-adf5-6e1ea5928923 CA367396876 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 88134805-8d02-42cb-80c6-801315361f48 CA367396876 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f78067a5-2078-419a-8565-219e04d39668 CA367397326 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen db3730b0-7598-4975-b99d-2f1ec464b46d CA367397326 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5913f21-64a6-4e0b-9eab-9cc8e12163a4 CLINVAR:447412 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 10ed40d8-ebbb-45ac-9823-08a5928df252 CLINVAR:447412 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebe09af1-84cc-4a6f-a7cd-75b4366ef98e CLINVAR:16141 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cbb9fdd9-166e-432f-9712-92bde67b96a6 CLINVAR:16141 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee9af9cc-9632-4a0e-ba0b-86f151e7b96e CLINVAR:36236 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 86e8a72b-a83c-498f-8ed9-b215947da7f9 CLINVAR:36236 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee7aa989-9612-4a8e-94b2-fe5b30bdefb7 CLINVAR:129143 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8e577990-30eb-48d8-801f-25436b3d5196 CLINVAR:129143 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d683a46-2d6c-4a72-a5da-cb051c56f328 CA2017997770 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 704365c8-8d08-44a1-a382-49220ea04fe2 CA2017997770 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0790138-02d3-4f62-8891-048dabdf131e CLINVAR:804835 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e21b4797-7dfb-4198-9f91-2ed508d86b6e CLINVAR:804835 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a75860a7-f8d3-4b6b-8bd2-654a1ef137d5 CLINVAR:1732973 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1637128d-ff41-4e3a-abe9-bec49d43dfad CLINVAR:1732973 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d7ab1b8-b142-4e70-a4ed-894e770dabed CA386963548 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ace0cef2-792e-4f0d-a46a-67370b20d980 CA386963548 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e274244-7722-4235-bd7b-e1d863814627 CA386965806 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6c95a219-0c2b-4ae0-8d06-26106fddd771 CA386965806 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9f7499d-881b-4d8a-af7b-da3338514cb1 CA386969831 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d70f0fc-c942-467e-9fee-e3419622f99e CA386969831 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb1aca0b-e611-44b0-bf87-76da91a0f4e3 CA386969829 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 42efbfda-d2db-4b20-8a3f-40d67e3d6bd7 CA386969829 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1bbb1ad-38b8-4734-9ae9-303775879caa CA386969822 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b4e0a33-1653-4b9c-b630-d057082a9ccf CA386969822 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afec5a27-7312-4cd8-b772-ea62a513da03 CA386970356 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed76875b-fb82-4d71-bcc8-fa342b839398 CA386970356 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8c3e2ac-0582-46c4-b598-aa8d68374c84 CA409106019 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc665cc9-137f-4030-a59f-de3efaaf1b5a CA409106019 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d9d4e92-4fd8-470d-91a6-99ed7af5642f CLINVAR:1744896 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68df831f-a98c-424b-8175-5c5848aa1456 CLINVAR:1744896 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b23621b0-5fbb-4645-ba50-06c95c014415 CA409107443 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f335664-c07c-4f74-b10e-4b735234eb2f CA409107443 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3398f02c-4471-489e-abbb-7f098f0611ba CA2573106200 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ceb1c4a1-634e-4aa0-a470-b591c9bb0f4d CA2573106200 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5f4b241-71cd-4923-8981-1cb52898950e CA409108146 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 301a5c1d-ee7e-4ca8-ac58-b50c70eac084 CA409108146 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ef740c1-34f0-47fd-8367-731a17e40200 CLINVAR:585923 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eb3b29b0-dfa0-4719-b4de-fa780b02e96d CLINVAR:585923 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6da90f43-129a-4015-b4b3-f05d57d1394a CLINVAR:804834 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bdb53941-7fc9-4c17-a375-be02e5c16e33 CLINVAR:804834 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34acacdc-b476-40a2-9d7d-4651ee662bf1 CLINVAR:481178 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 808b4c23-238b-4320-af04-7963ad753ee2 CLINVAR:481178 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f021611e-3b45-4e33-af7d-4a084673bc0c CLINVAR:532446 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c2be04f7-b55a-4ebd-9ba1-6de000998730 CLINVAR:532446 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a401e65-a203-4d12-9c15-7d4b983317c7 CLINVAR:692767 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a6fb8945-f8de-41c3-85e4-afd1cb60d632 CLINVAR:228859 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f2639dfa-40b5-46ee-8d7a-889607a41574 CLINVAR:489846 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5aec0d9a-891d-453f-81c5-2d8f6da65b12 CLINVAR:489846 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89e1e0c9-bc07-4347-b7c0-0be9734c9f16 CLINVAR:230669 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen abf68630-ce3d-4352-8289-d9cad58ff0a6 CLINVAR:230669 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcf6e8b6-f1c3-4df7-98b2-ba7987afcc55 CLINVAR:481700 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9af6bc84-edc2-4e5b-8b4b-b3a48e4db5be CLINVAR:481700 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76fea811-0f22-4122-84c4-abf131459ea2 CLINVAR:481692 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af30c79c-f763-4ae8-b6d7-b15c5dce97c6 CLINVAR:481692 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95beb510-98d5-4153-9866-152b12b59cd6 CLINVAR:483261 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 54446a3b-11ed-44f9-84f8-ce2cdc111686 CLINVAR:483261 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e91ff61-08df-414a-a4ed-e4ea85b3f894 CLINVAR:584516 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e282cc5-e026-4d75-b10a-2327216f768a CLINVAR:220445 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e9268fc0-db57-457d-94d2-85c78d627187 CLINVAR:220445 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3cc28ea-b5f7-400b-8360-4cf38ff1bda0 CLINVAR:235370 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f02c0a10-39a1-4899-a2e0-96958c542d49 CLINVAR:377369 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1201725-8c2b-460a-aa1a-007105451c24 CLINVAR:439912 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 405c284a-6ba4-4cc9-bb52-5209449e471f CLINVAR:428630 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed4fa20c-45a2-429e-8c59-332751168d83 CLINVAR:428630 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b4c8d09-2551-44b0-be93-ff4d1ab82b8c CLINVAR:185005 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bbd0b66b-e5e4-4ca8-aa8c-d25b5a6dcb09 CLINVAR:185005 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb8fdf20-8211-4d45-a10f-08c4177e367c CLINVAR:921477 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5559b221-6125-4ff2-ba35-c4d623dc3ff0 CLINVAR:921477 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa46582f-a3a1-45ea-8e7d-f0e42de7f443 CLINVAR:428619 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 828b2134-19a6-4714-8991-d1ba5c49241c CLINVAR:428619 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85c1ead0-eef4-4817-9189-7421d918dd66 CA2229914895 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d9b8fe76-98a0-4a00-9958-d641a753718d CA2229914895 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd969c52-24f2-4642-8dc4-103392edbb16 CLINVAR:21076 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dfcbdc45-7f63-4139-bfbf-3688f9f6cfa0 CLINVAR:21076 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cf7dd78-f92e-48e6-86d2-75daa9bdedea CLINVAR:16145 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 49167109-d6ee-4a35-bee6-763d0d08b53c CLINVAR:16145 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9a7eec9-58e9-4607-b7be-a8f321dbd3e8 CLINVAR:972776 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f3c9e5eb-495c-4a9d-822d-486e66325a95 CLINVAR:972776 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a98f4e8-78bc-43be-b094-12bf8ce1dc1f CA1139770963 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de33b224-4f14-49b9-8290-de09045d4b63 CLINVAR:7953 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 22a6dfd3-ce05-43aa-a811-f82d4a53f3f1 CLINVAR:7953 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90bae93b-c015-4542-a41a-509fbcac593d CA343724143 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e8b3bfd9-4ba6-4256-aad1-58078fc7e48e CA343724143 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39431343-c94c-4619-8aa1-3d07fd561488 CA343725177 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 62bd79a8-3744-4bf7-aa0f-a5683fc57d85 CA343725177 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e547e6c1-aafb-41b8-9929-e408d9b1fd1e CA343725131 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc44cab1-62cf-4a56-a719-f0917b172037 CA343725131 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0603d35-fdf1-40a3-bf92-24b5ac7d597c CA2017997725 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 221f1ce8-697a-4232-8f9b-6715ac7cebcd CA2017997725 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 516e0393-8ccd-4739-8ffe-ff490b71989c CLINVAR:875033 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc70ec4a-3c1f-44c2-8fa8-b4893c806073 CLINVAR:875033 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fc1d020-e831-4861-81b6-663517922b3a CA2573130348 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc4fb76d-3f82-413f-b9f0-bba7aaa61129 CA2573130348 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ae3d84c-a0f6-4c3f-abf3-0142c0980f17 CA343723562 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 56aff1d3-3c3f-4a1c-8fed-3b9d8c2b8d1b CA343723562 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccc3778f-ecce-4363-84e0-80541cc10970 CA343724581 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de2e19d7-f53f-4c48-9bd3-23851f13676e CA343724581 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75b66837-b9f2-447b-829b-adce564890d0 CLINVAR:293722 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b871f9ba-bd99-4690-83ae-b5f3ba44931e CLINVAR:293722 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e71f264-7043-47d4-929c-436f0dbe4c3b CLINVAR:293720 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c9d8227c-e4fe-44fb-b036-b93d5738d548 CLINVAR:293720 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d23f6ec-d140-4528-9759-f8af55801efa CLINVAR:293719 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e452ac2-15e1-4775-b2cc-a477d0566899 CLINVAR:293719 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c279f8b5-1d89-46a0-af66-19b1e338fada CLINVAR:875954 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd0fc46b-0be2-4cdc-80ab-c1eca975b1d0 CLINVAR:875954 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f73030f-0b98-4bf2-9beb-f2936c1b4343 CLINVAR:293721 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 64908f54-dd68-40b8-8348-418b9587a906 CLINVAR:293721 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a770f7a1-72c4-4d6b-99b1-867786d8f67d CLINVAR:876999 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fe8b7e7e-4a74-4b6e-bedc-913a86fe28f9 CLINVAR:876999 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bd7d92a-372f-4bc8-87ae-199353359088 CLINVAR:293714 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 601ebbf0-7e6c-4ea8-bf0c-4411ac951afd CLINVAR:293714 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f15ac37-bfda-420e-b9a4-2026f61c8452 CLINVAR:252960 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68e2faeb-466e-4727-9f58-24a22947c71c CLINVAR:252960 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1b1619a-b8f7-446c-9126-44514f614430 CLINVAR:293713 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a6afa59-6079-46e9-9ac4-e2fcd71b9085 CLINVAR:293713 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0300898f-b8fa-4859-b99e-518fe6e1ed5b CLINVAR:242274 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1c95c32-557f-485a-a14d-794e60cf1423 CLINVAR:242274 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ce08b7a-2bb9-4577-8dbb-2f89d3115dca CLINVAR:1324770 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 857c72e8-d2f0-4ac6-b395-492dc97d647c CLINVAR:1324770 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ca705ff-b903-46c8-9717-6638083bffa7 CA343719128 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen debbe8b1-b33f-4fdb-b236-bcaf5a0eed98 CA343719128 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bff6562-49e7-42da-9f16-64db7f8ac43d CLINVAR:631579 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 47bc6466-5211-4435-84c3-00dc5a177d02 CLINVAR:631579 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08fc1d3d-288d-4601-8970-56798b71d7ad CLINVAR:585908 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b2428a9-fb64-41a2-b8b4-3095348dee76 CLINVAR:585908 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1f0f7cb-3329-4261-a5c7-a0c72ab9ae97 CLINVAR:36176 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7ef5cba5-dc34-4d2d-9793-8b03dde38275 CLINVAR:36176 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a662c15-9baa-4d62-85a8-10fe7e099904 CLINVAR:447425 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4da2b633-8370-4047-92c0-9a3d4f597d5b CLINVAR:447425 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a8f158e-bd28-442b-98ff-f0e99971aab3 CLINVAR:1802685 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dcff61d0-20cf-44d7-a961-17d736ae2d67 CLINVAR:1802685 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f45533c-1037-4cd9-9de4-9713722648f0 CLINVAR:381598 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a046e73b-3f51-49ed-89c6-9e8b357a8aaa CLINVAR:381598 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ace3b759-f45c-48b5-b8e5-f870231a5ea5 CA367398947 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b20b5d30-7eca-4e0d-931c-2b01cecf2a36 CA367398947 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15db2367-6a26-4869-a816-5ce251b6d235 CA367398947 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 17770ffb-fe8f-490c-8135-854689d499c0 CA367398947 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2344642-910d-4e5f-b860-3939e5db4bfb CA367398935 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 446cbcac-bc63-4be0-ad8f-212bcb8a2082 CA367398935 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b2a4086-06f4-4ea8-ac31-3c6a8cc0d2fc CLINVAR:447379 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e308706d-d0b9-44e1-843d-3e70ad50989d CLINVAR:447379 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2e12abe-d753-485c-b242-a5ad4b9012dc CLINVAR:129140 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f15d7894-78be-4a4b-b317-6313f6dbe664 CLINVAR:129140 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ea66a56-ce6e-4436-8735-9b08cc95edb5 CLINVAR:617645 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b853c848-476f-476d-9f33-0d07fd021df1 CLINVAR:617645 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2825a9d7-eb94-425a-8123-dc0bff17f715 CA367398869 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 808d8104-f4cf-4ae7-ac81-b7fc4fb3d449 CA367398869 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39969866-a11f-4ed0-91bc-749a324d6f91 CA367400083 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 38be28d5-b981-457e-aa11-63931855f82d CA367400083 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c71af475-415f-4b03-84e8-0394f3427021 CA367396716 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3e9ca336-d9fa-4fe7-bd45-c05c4d638017 CA367396716 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94d7574b-5633-402b-bacc-9024e939051f CA367396721 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 67fa58bb-7beb-4a94-b862-c555e24a22f9 CA367396721 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79ba0df5-ef20-4d11-a6d2-3c9a98bd43ae CLINVAR:447423 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5c8a8a5a-e879-46d2-a371-5209ad8720ec CLINVAR:447423 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c323851b-9d99-4a4b-b1fa-d1a5fee2fe05 CA367400134 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 380ccd27-73d8-407a-baf1-ae1062a0c918 CA367400134 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c08286b0-c451-420f-b7aa-7f38af1b199e CLINVAR:1436793 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2c8e31b8-532c-4430-87b5-a2413c40d863 CLINVAR:1436793 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6c43dfd-2a71-4622-8171-b42df2755225 CLINVAR:16135 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f1867a69-be01-45b6-9b63-771c82082042 CLINVAR:16135 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31eee78a-6895-4e70-b194-afce17b5be24 CA367400569 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0e85b279-868f-49ba-baa0-bb53090a401d CA367400569 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56a0b30e-c82c-4854-bbce-fd6d503a93f0 CLINVAR:447418 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 58fc1333-6ac6-47ff-8dc8-d2802484511e CLINVAR:447418 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d92bd37a-d8a8-4489-9b93-3a8ef7d306dd CLINVAR:435302 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 29dc1e94-eaf6-4331-b889-b92bdd28d686 CLINVAR:435302 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c96bafd5-bece-494a-8a88-1e6eed72c353 CLINVAR:447417 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4bd5aade-1cc1-44c9-8019-fef3cd7baac5 CLINVAR:447417 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ec45b8b-77be-42e3-9a19-42c166734381 CA367400582 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b69f2218-7b71-41b2-85ad-d92b5a047c2f CA367400582 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e36ce15-df47-4f0c-ab19-557f4334de1a CLINVAR:36243 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 673c08e9-5cfd-4523-b432-490bca2e2409 CLINVAR:36243 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f489e01b-db28-4777-a9cf-fcfadd18745e CA367401977 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3b5220aa-002a-40c4-8115-024487875a05 CA367401977 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8078cfce-bd54-482d-b739-27f5409704ca CLINVAR:2428681 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce1175ce-2193-4a14-b7d8-4c22a12b6e97 CLINVAR:2428681 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3909645-c05f-405b-b9c3-2fb01cb32a79 CLINVAR:36209 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d8844793-0815-42eb-a8f3-d35322d71c29 CLINVAR:36209 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c04b865-37f0-4d4f-9397-2c6a29a85e73 CLINVAR:36204 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0cdb1da3-e3c3-4a9c-9440-cc41e31a9563 CLINVAR:36204 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3b15ae3-289a-44d0-8dbe-f4eebb875bfa CLINVAR:585911 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 05d26758-acc4-4af9-a171-318068464766 CLINVAR:585911 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 451c12e8-5d4d-4b8a-8816-9def76beb767 CA2497028745 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 30c1992a-5f33-460b-9624-481111ae7afd CA2497028745 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b0d01e5-d218-4b2a-9155-94d3ae94ae83 CLINVAR:994902 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2f77cfe5-3262-4961-bfee-3973fc47e983 CLINVAR:994902 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6987e78-5504-4d69-a027-7b23e2ed2650 CA2573106198 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c49b3740-fd7d-424a-b208-e100f76b3521 CA2573106198 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a417bfd7-ef15-40cc-ac84-1bc453627bd3 CA409106116 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5a630e72-d3ba-4146-83b3-abe5efcf719f CA409106116 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f62345b-a49d-4448-81e8-3a2fbb2869f2 CA409106207 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2ef2de50-775c-493f-b30f-38c7b0e88d25 CA409106207 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71d92ad4-b25e-4506-90fa-1cf7d03b409e CLINVAR:1756327 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8370cf34-b43d-4b50-94fd-f423519944d3 CLINVAR:1756327 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94569117-b2dc-4575-9f11-69817e00d303 CLINVAR:972818 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71ac0e4b-4939-4835-81a7-3b9f521ad498 CLINVAR:972818 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4599ba8c-1099-4a08-8048-9ceb8759b48d CLINVAR:1675516 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5eaa76b6-55a9-4f84-a377-1827df9fdf3c CLINVAR:1675516 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94f99dd4-d852-472c-af7f-8df48eb47053 CLINVAR:751827 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d44ccc8d-6e78-464e-b503-55f067244a77 CLINVAR:751827 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eed1260b-d292-4147-ac03-0bc44e679128 CA915940958 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5911c800-1a2a-4ba1-bda2-5f34c4624a16 CA915940958 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d08192e4-8521-4a80-95cc-ab3b105ee036 CLINVAR:323548 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 74898231-dd25-4e6c-918a-73880af6267a CLINVAR:323548 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9c3928a-a510-47a2-be4d-cc6d6a7f05ec CLINVAR:323560 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f56c470c-3807-4d56-914e-62cef7e36bd4 CLINVAR:323560 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58d5581d-6cfa-4a15-a9f1-9d82797acf4c CA399801096 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5cb41983-1131-4d8e-a34b-6d8e8aa9f0b1 CA399801096 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5404629d-4320-4397-92e5-74d9aa46b299 CLINVAR:888905 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc154891-0349-42d1-a8a7-acc0c820baf2 CLINVAR:888905 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d318cba-4764-43c6-bdee-7ccc228d34db CLINVAR:323571 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c0bf9c7-f233-43ed-a2e4-d469226b5319 CLINVAR:323571 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd460119-9414-45c8-b867-14b065ca95e5 CA2573102981 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1ef5d4b-3c24-4f08-b6a2-3aa924475cf3 CA409103809 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 74580f52-f24d-4b0e-bdaa-4c31b41c8d4d CA409103809 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fcc4a6d-712c-4b60-a089-8b57225f85a9 CLINVAR:422466 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5e094d3-011d-45c4-ac34-6fa09cc4a91a CLINVAR:422466 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db008dfc-6ad4-4277-b1d1-3a8ccbfcfda0 CA367403541 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c83a1e8d-dc81-4de5-9f29-4e6cf210ff42 CA367403541 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef2093e9-206f-43bd-8648-3ec69a9f0816 CLINVAR:393453 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f2c06120-7699-4e10-8f60-964fcd990903 CLINVAR:393453 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27294931-2342-4953-80a2-0d598dca6ab1 CLINVAR:419624 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 07c3b599-df7f-4bc9-9169-d3baf19125a7 CLINVAR:419624 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61be7959-0caa-4503-8c5e-906078faeaf0 CA2573105963 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f20a027a-58e1-4a4b-beef-e324f6660441 CA2573105963 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfd691c9-bb85-4d3c-afdd-0a1303328800 CLINVAR:447388 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 17b1ae0d-5d7c-4340-8c34-d4551713b33d CLINVAR:447388 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1661914-d020-48eb-87a7-c90061a6adf7 CA367398536 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 25ec7ca0-5356-4627-b364-349c1bdb11b1 CA367398536 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3be6423-3fa2-468c-813b-f1550ba654b1 CLINVAR:1301416 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen df7379a7-efb1-4749-a0ba-ae98a4d2ecd1 CLINVAR:1301416 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21e8f7fb-1a2c-4a14-9814-525f87fd07b0 CA2573051052 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1a12bd74-9d8c-445e-a2d1-d203ae24f3aa CA2573051052 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d007287-d066-4e04-8082-9e7361982f9b CLINVAR:36201 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2f3b48be-6b74-443f-81f4-49da18c2a97a CLINVAR:36201 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86fab06a-0c53-4829-84c5-c1eed9aab91b CA2573102980 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 24efdf36-e5c5-4deb-b3e1-3f6033883f3c CA2573102980 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11d3a8a0-e66c-4b94-8db1-6aa35b05937d CLINVAR:1365679 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cf4c0b74-37ed-4b05-9de8-2ff32390dbae CLINVAR:1365679 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa8962da-3a7d-4ea6-b68a-087fb842202b CA2017997777 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f3f45d3d-aeef-4b4c-afd2-d39ca2c96424 CA2017997777 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20029370-5c6d-4213-a3ac-6a1f94fadc0f CLINVAR:585915 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fd259042-0e1a-497a-b90b-9ce4192c9bcd CLINVAR:585915 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b58a0f1e-eb43-497f-bc92-4a4f5ab5552d CLINVAR:1799350 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen be439710-5f8c-49bc-ad76-d20655c5b104 CLINVAR:1799350 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0aad57a-b819-49c7-a6ac-305a4ef30bba CLINVAR:289356 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 31ce9ef6-b3ac-4368-a996-9488a4044cd2 CLINVAR:289356 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f53449e-82da-42ef-aa83-404e2eb122ab CLINVAR:286228 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen caa4b402-2bfc-4ba1-aaa1-912ff88cdb67 CLINVAR:286228 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ca122ab-4546-4967-aa39-b164011864c7 CA400025655 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7300cac9-9061-4407-8c0c-e30058b38375 CA400025655 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94ed47b9-2472-412b-81c1-2a29ceb8623d CA915940789 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 30abf336-d34a-4768-b91e-e570b97755ea CA915940789 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0113bfe-30ff-4a0b-be1a-e727a3c596b5 CA367397019 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a60a68db-95ae-46f7-bcf2-c850218fdb19 CA367397019 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efc7dbe7-f63e-45ff-be9f-8daad970057a CA2573106066 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 524ec1f8-d390-4d28-b854-94e2ef41a681 CA2573106066 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ab53f73-7b3f-4208-8027-4a947e253cbf CLINVAR:1769182 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 22772a6a-2f95-481c-963e-046434bdce6a CLINVAR:1769182 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a7aa9b3-a4d8-490b-a07f-b00c1302c652 CA367398252 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cc7b8fc0-7bbd-4e7a-946d-aa26894df18f CA367398252 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e923ef2d-694b-448e-a62a-12489c90fb51 CLINVAR:995102 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9a448e8f-d1bf-48f6-a01e-acaa8dda1ed9 CLINVAR:995102 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d45a3eff-ba7f-4fa7-ba26-3874b6bfbadd CA4239418 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 04d48d98-fa16-4d3d-80ac-9aea5ba7e035 CA4239418 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ef95a60-8200-496c-951b-4ee6fe443d5b CLINVAR:447383 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 09a44a44-cc54-42c5-91a0-ddd83aae1db7 CLINVAR:447383 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a8c908b-28de-4017-8289-a97f496d4ede CLINVAR:617652 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b899b0ef-f941-4c63-b896-7b1aa45e358f CLINVAR:617652 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b95c1842-7e03-4e17-9d92-69492b156054 CA315411422 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1fab677a-8f0d-48fa-b056-2b62e08f77c6 CA315411422 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13aa39d2-b257-4755-9e0c-f4a1d0a8b0e8 CLINVAR:1098819 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e65f03b9-4628-485b-aa40-22f97023d91b CLINVAR:1098819 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40a77b00-4431-4dde-88d8-3294e6bcd0c0 CLINVAR:1299752 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cef39a09-5365-456d-85b6-398a39c7c30d CLINVAR:1299752 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7e4ff7f-9a62-4d24-8025-6a418b176e54 CA386966083 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 07cf4007-169d-42a7-a988-423f6f76be32 CA386966083 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d604aa0a-96ee-4124-bebe-f9f61ee435d2 CA386966081 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 61c61035-cb7b-4d2b-930d-7b736ffe9f34 CA386966081 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3114951-fd66-4c83-8ed4-8b139dc7c71e CA6831658 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2736605a-2715-402f-b269-549c63a2ef5a CA6831658 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf8b8591-5b19-43b5-bb37-a85a40af2e7c CA386959080 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 95339e59-df97-4e09-850d-d6a5282602ec CA386959080 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebdfb041-43d8-4859-a371-1caf82aaca79 CA2580610925 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bc4cde44-2235-47b6-b302-52d43b0a1fee CA2580610925 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfaf660b-00f3-4bf4-81ab-22c08aeab777 CLINVAR:36185 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 271d6384-dde7-41b4-baa1-90165c2cb3fb CLINVAR:36185 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dfb5a5f-4526-4938-8426-0395d2eec468 CA367398753 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5548356e-e1e8-45c9-b980-44901f24eedf CA367398753 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bec419c2-5f6f-4d0c-80a1-9c0d9323b1af CLINVAR:1727652 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d24bd147-8112-4013-8922-37352039864b CLINVAR:1727652 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6a7b0c8-38e5-4890-bbb9-49829694adf5 CLINVAR:435310 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9c68f753-7d28-477b-907c-96573f2830a0 CLINVAR:435310 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c12e2f38-94bd-45fe-9611-2ada68e42b28 CA367400478 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0b535fea-07a3-4a5c-9ee1-6da878813bd8 CA367400478 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9639538a-6df7-421d-a5c8-94ad3267bdac CLINVAR:585927 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 08f53867-23a9-4a8d-87f8-1b6bba6bdd95 CLINVAR:585927 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68dbd477-96de-4394-8b4a-52d0d547ba7f CLINVAR:323566 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bb28b149-e55a-47b9-8df3-9c3894f4d7af CLINVAR:323566 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44854236-832d-4dc7-b1a2-20cd62ff5cca CLINVAR:890600 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 421ed3d2-ccbc-41a2-93d2-2769bcefe494 CLINVAR:890600 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97e98ac3-c0fe-4785-8161-ecdda6454b18 CA915940646 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 75e5bbee-c2cb-49c3-9fff-9c40f38b6425 CA915940646 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77a6ace0-c46f-4bb8-bf36-900b0946a822 CLINVAR:890135 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1ca185b6-8d31-4524-ac5a-72bb38c3e6c5 CLINVAR:890135 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dd2f713-a5b0-4137-a073-62c50f8854f1 CA399804774 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 45b4c4eb-e5a4-4cee-aa5a-8c3cef7abfb6 CA399804774 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 947ff637-1cf6-4c6d-ac9f-0b75d677a685 CLINVAR:872751 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6df6f9ba-7a3d-4bf6-b0ce-87eebf5dfc4c CLINVAR:872751 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d953d05-e471-419a-b90b-65a66b0b4fac CLINVAR:142905 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 819336a9-2ebb-448e-aa8a-f2e20c818050 CLINVAR:142905 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d5edc7e-e508-49cb-a467-d7a3bd9452b9 CLINVAR:239915 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 726a38ff-07b9-4848-a4ce-d37aad95bf5a CLINVAR:239915 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b2d1580-ba50-4191-8809-4827b9ee0aa8 CA409104369 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4eea58bd-bc15-40e7-9e9f-f929f59637d5 CA409104369 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a191cab-dd31-4085-a501-474b280e54e4 CLINVAR:427034 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 97491790-95b4-442c-9f3f-6587b5b5098b CLINVAR:427034 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cff5e5f-5dcb-43f7-9585-32b19ff6529e CLINVAR:18019 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bfefedbd-ca82-4b94-9388-87378d8ff880 CLINVAR:18019 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 794638bb-d589-4aa9-87a2-56eba4668234 CLINVAR:627228 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d752eb91-08db-4ec9-9d9f-3db56f47dc1f CLINVAR:627228 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dc0365e-97de-44c4-acf1-4f5583d3aed4 CA1139771046 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b8bb9c60-3323-4c2f-a7e5-00805bce4d76 CA1139771046 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f18eb54e-ed0c-4aaf-8ba5-2a38d14aa33d CLINVAR:18042 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0128316e-83e8-4e35-9776-07986206a33d CLINVAR:18042 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a177e6cf-b5b0-425d-8990-909709ad9efc CLINVAR:18014 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b06bf19d-a9e2-4077-ac79-5d4c2d221f96 CLINVAR:18014 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bcd8c75-86fb-4712-ae77-067c9dce8258 CLINVAR:18034 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6cc6cb0f-9dd2-42fa-961b-a2250ea7a0d8 CLINVAR:18034 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 575c7d32-9af3-4d0f-93a0-cecbe9f445ca CLINVAR:627161 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 703eb991-d8c6-4b30-98fb-32e04f6e7bb6 CLINVAR:627161 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2b26b67-6209-49a1-8518-327bb240397b CA343774795 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1650a1c2-a0a2-48c2-8187-cbad612bde2e CA343774795 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b340df5e-2222-4315-940a-12d21a345de0 CLINVAR:410384 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e58a7dc-6f11-4cc1-ba2b-ea47d016bf8a CLINVAR:410384 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 038f28b1-01f9-4a61-a0e4-665001f2d631 CA1670972946 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 043e5ccf-bb77-4dd1-8f33-04c4dfeba1ec CA1670972946 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ccddc11-f3eb-4d8c-8a93-c1f397a55028 CLINVAR:18011 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6adbedcd-4f8a-4479-be33-11651e82de85 CLINVAR:18011 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a63cbe9b-9202-44a3-b579-9beb8323c121 CLINVAR:447399 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1143ab7a-20cf-49e2-b23b-91ff367a63ff CLINVAR:447399 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b8e826e-d77a-4a7a-9cfd-1c31fc496dd6 CA367401964 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 94719606-e838-48e7-8978-a66f5d99fe35 CA367401964 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 767e205e-57bd-4b45-9ab7-0c815e106ba3 CA367401896 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 32bda5c4-6a8e-4e13-a0bb-cd4b2f61eeea CA367401896 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ec13b29-5f42-4b03-b2b5-b9ccff5e3fd2 CA367398808 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3f82fe8d-bf62-4cd4-86d9-980c7f3cfa41 CA367398808 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab94b6e2-2518-44d8-8707-1362a1db9be0 CLINVAR:447420 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 48b5d761-61f9-4b85-a112-92e58cc8ab1d CLINVAR:447420 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24003ec9-f136-407f-8376-84b22ae4a645 CLINVAR:43519 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b6d43ec4-cc86-4c3f-954a-72cc4f7751dc CLINVAR:43519 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 402ddc85-069f-4750-8a6a-aa546b295a2f CLINVAR:37404 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ed94ebd0-a825-43ed-a821-4efa6d1fc04c CLINVAR:37404 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43dbde3f-f9f6-4c61-9db6-aadd6feaac08 CLINVAR:17662 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen af71ea6f-2c44-43d0-8c77-1e6a9027bc0e CLINVAR:17662 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01a6d760-8cf8-4823-a01e-9be7572c4173 CLINVAR:52430 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e184d42a-259a-4b94-9cc2-cfc3b657a71f CLINVAR:52430 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 215b5591-d629-4c73-b15b-0a5c91cd837d CLINVAR:37635 biolink:associated_with_increased_likelihood_of MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 92ff40b8-5389-4147-b338-465d475f7f8b CLINVAR:37635 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 867c2767-f057-4cb3-bfa7-beae7e4e838d CLINVAR:55451 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7f72a80e-8575-4efd-821d-15ad02a7202b CLINVAR:55451 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d93186f3-0642-45e8-9208-244b5d00d000 CLINVAR:38132 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2dccee6d-bc8a-495b-9d87-486da4ed60fb CLINVAR:38132 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fba0edb9-0f56-4a90-b0e6-dc137d2ea24b CLINVAR:246362 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 26f77c5c-42be-457c-b42a-0f82633f673f CLINVAR:246362 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2bfd375-2ef5-40e4-ade6-616b79cf722d CLINVAR:52475 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 04b6eec8-89e5-407d-b400-4e39ec0cccd1 CLINVAR:52475 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e5ce409-2c45-4cce-a6a8-0faf0f501af2 CLINVAR:54400 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen da7f5e33-a9c3-4b9d-9c00-b2bb185a3ecb CLINVAR:54400 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b12c2c39-7c4c-44a6-bda9-c4874b3eb30a CLINVAR:54467 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 29be250e-96b5-422f-9e51-f4d5dc158547 CLINVAR:54467 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f41156b-46bb-4a48-b88f-0441786bc20c CLINVAR:267530 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1ebd84ac-1413-4716-847a-35175a15150d CLINVAR:267530 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc458e27-2724-4efc-b7be-8436e94d9165 CLINVAR:55374 biolink:genetically_associated_with MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e58563ed-b8e6-49a5-b37c-74e524aa187f CLINVAR:55374 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddcc11d9-5f18-4ccb-a234-b4dcf6180fa6 CLINVAR:431973 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 75a2d3cb-f6ab-48ab-8e8a-388b556824b0 CLINVAR:431973 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc9b6558-eae3-414a-8f30-b1445e593c49 CLINVAR:55392 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 51572ed2-b71d-4926-bcec-cb088aa2752c CLINVAR:55392 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b216da2-9906-4bdd-a0e4-3c147ea72432 CLINVAR:267601 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 20a97728-d7b0-4093-9080-c03a9ec952eb CLINVAR:267601 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a88e031a-f236-491a-80e9-a366f2f3daf8 CLINVAR:55607 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f6aa7a81-030f-4131-b650-36716883b053 CLINVAR:55607 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e5c4e3a-89b5-408b-9d86-03d3d3e06e5c CLINVAR:9325 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 379cbbc2-6fff-49d9-a157-990e7d7c3e73 CLINVAR:9325 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 552b6f7c-7d51-4bd9-ab1f-6e4082526981 CLINVAR:219896 biolink:associated_with_increased_likelihood_of MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4b3bcd9e-636c-4678-b901-69a4356b0403 CLINVAR:219896 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eedf436d-b0d1-4081-987f-539d74342b56 CLINVAR:52516 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 694eae0c-acc8-492b-93e3-16f51bf70880 CLINVAR:52516 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f496382-0c59-4eaa-b83b-c026a433a4fb CLINVAR:38215 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d7d489ec-bbf2-4394-a467-25cbb8939042 CLINVAR:38215 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7249cb0b-9d71-4858-af6c-27cf4ef77fac CLINVAR:126203 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0e188d32-e599-44f0-84cc-49b97ee1767f CLINVAR:126203 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b0354d0-49ca-4bac-9a10-0c20e0b6423f CLINVAR:38260 biolink:associated_with_increased_likelihood_of MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c714aeb8-e64a-4709-a13a-d99d41a5e236 CLINVAR:38260 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbb87e18-36fb-4301-bd1c-0b166c4378be CLINVAR:52919 biolink:genetically_associated_with MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2b1b849e-a284-4d62-8ac7-f52102d66890 CLINVAR:52919 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f823246a-0394-4d5e-9206-790acebb4c04 CLINVAR:284886 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f0d4baf4-854e-4e71-becc-3326c934c99d CLINVAR:284886 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 425f5929-e31c-4696-a5bf-7dac6185ff7d CLINVAR:546808 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a263f627-dbd7-45e0-84ec-c322632b6b75 CLINVAR:546808 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b7ae958-8be7-4252-8199-84a7f6a71f04 CA367400479 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e1058feb-99ba-402c-8022-f0049bca7132 CA367400479 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a69db2b-fba4-435d-99e3-2306714d8e03 CA16020951 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b85ccd91-b3e1-4ef5-bd6d-dedfced9911a CA16020951 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9154447c-5ec8-4534-a70a-a4c3de10e62e CLINVAR:102717 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7b81b36c-d3a2-4a32-9a31-bf96560d8d2f CLINVAR:102717 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14c98bb2-eff6-4370-bc8d-e9e615d3321d CA16020824 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9b6b4d5c-e71f-4431-a64f-7b2e581973e9 CA16020824 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55635397-bc66-4929-b90b-79b7716201d6 CLINVAR:556660 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7126e213-83f4-45d0-a7a6-423b14bb8058 CLINVAR:556660 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9ae30b8-0d16-4717-833e-82a0652e9091 CA16020767 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d254cbe7-6b02-4dde-a659-a53842be9f78 CA16020767 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4925ba68-8d6a-486c-8dc2-25c6b0101d2f CLINVAR:21078 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79f13c1d-8594-4d76-9d0f-29a6f818651f CLINVAR:21078 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e757c7d-7693-4c9e-a657-eeebba7de2c3 CA16020835 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9000fab5-9468-4dcf-95f0-8f36bd1516e2 CA16020835 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44b984aa-2877-4c09-b4d6-2304223348a8 CA16020974 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 76eaea68-59b6-48e2-80b8-9467b89ed8a7 CA16020974 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49510857-50a5-4297-b3f0-965ad14e95b7 CA16020726 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9bfbf9d4-38e1-48dd-8834-00baf039a3a6 CA16020726 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f057a2d-72b6-4cce-8953-b7e19a3a4342 CA367400776 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b7ac9b31-86a8-4632-b725-33beda9359a1 CA367400776 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cc9b0e0-3587-4c7d-bd94-c628a251c3ca CLINVAR:36244 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eb6fc134-8c30-4f89-b77b-f31e982222f8 CLINVAR:36244 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8321ed08-b2d7-4056-a16e-a681f7fdf54d CLINVAR:1172896 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen af32c949-e6ef-41fd-a532-05f73ec8e4e1 CLINVAR:1172896 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9328f4d2-58df-4f53-addd-fea57a4048bd CLINVAR:102532 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d6d7b268-30f0-4c74-b1e8-75c305307bc1 CLINVAR:102532 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a6286c6-8979-4654-8bc1-0b6f07e0904d CA16020918 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bae6a61c-fd09-4e46-a5a5-8a99206e19cc CA16020918 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9186195-c13c-466f-ad46-54ce896b1705 CLINVAR:102635 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2ba45256-01eb-4165-aa69-aa2f5b5795e8 CLINVAR:102635 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db4eae96-efc6-4fa3-b90d-8aa6371077ea CLINVAR:495789 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cec361b4-ea35-45d1-8590-abcee14c5493 CLINVAR:495789 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f10e4c1d-f098-4176-a0f9-b26b2103ef45 CA16020717 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5fe1ba5e-2d1e-4e77-85c8-8417aebf8ba4 CA16020717 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b59ddea2-5c95-482d-84d3-36a28c111b10 CLINVAR:102848 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8e598e24-07de-4e0d-a1ea-452f2f8a91b3 CLINVAR:102848 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1ec9d0e-853e-4cf5-a3ba-d3014a1ab5ed CLINVAR:558132 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0afd8c0f-eb2d-4928-b2ad-91db47648878 CLINVAR:558132 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97ca289c-ee1d-4dcc-b79e-8692a85cc0f5 CLINVAR:102867 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5ba48936-a969-47f3-bd8a-4ba804d9db9a CLINVAR:102867 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed7a777b-dd73-4afc-9fc3-b33e754dbcbe CLINVAR:102500 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8139ed79-e619-43e8-843d-ee2a849c4942 CLINVAR:102500 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1423fd60-0067-48e7-80ad-525843a8a46a CA16020799 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 61425dbb-0c87-4fdf-8352-926e25e37488 CA16020799 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c28d89b8-1127-4705-91d9-e7f23a179fdd CLINVAR:536543 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 577d9ed5-118f-4e76-94ea-19fa534970fa CLINVAR:536543 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 137ae668-b490-4877-b73b-af5ae144c587 CLINVAR:536558 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 954012ca-e8b3-40cb-b68f-42c1654e852f CLINVAR:536558 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff5858fe-d4c1-4b80-8bb5-de43292acbbc CLINVAR:323574 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 677bc048-3e85-4676-b1ac-968224370dae CLINVAR:323574 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 416b6feb-fb9c-4f6c-ae6a-a2f72f801014 CLINVAR:323574 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 79e5a40a-043f-4237-9014-dac89eec88e9 CLINVAR:323574 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e0ea51b-5b30-4663-b27c-2dc62162d6c5 CA8603504 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba607d70-62e7-40c9-9bb0-9207d3602c28 CA8603504 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cfaa26b-a83e-486f-ae30-16308f919217 CLINVAR:1687232 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5fca2fbd-f575-43ec-8daf-7ab758349019 CLINVAR:1687232 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ad65a10-a472-4b35-911d-7f8b6381d27e CA500273575 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c6c2c97e-8b83-42a5-baeb-97d00d79ef6d CA500273575 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a1204a5-2634-4ad4-bcba-125fc44d2110 CLINVAR:888826 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 67331c01-6c25-4d3d-be51-b1d986f4c3bd CLINVAR:888826 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97785a64-b374-4f07-8620-5052739e5976 CA913184731 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e1308bf0-6f11-472d-b4bf-c131355aa579 CA913184731 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dfa186b-cd85-4f56-948a-c7c9fb14b8d4 CLINVAR:888825 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5a3f42c0-8495-4a11-ae3e-8ecafcfa4973 CLINVAR:888825 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1f97b6a-b110-4a8b-b67c-2c1f87aa7035 CLINVAR:888824 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc2c3a2c-da6e-48e6-8031-125087d53188 CLINVAR:888824 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08071a6a-7864-4d0b-aef7-b1dd4beef15d CLINVAR:428195 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d5df203-c4c6-4b3c-bdb8-a577880ec129 CLINVAR:428195 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecc63ee4-8cdc-40be-b4f5-e7ca5565f455 CLINVAR:1334551 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fbd5b727-19a3-4660-9bb5-b5ee57ac84c3 CLINVAR:1334551 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70e6e08b-da8c-48c1-9929-8796a34abeee CLINVAR:189400 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1fdb86f7-5a41-45ae-ac44-2aa829ae9bf2 CLINVAR:189400 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0f11821-2652-4799-9a2e-cb540362516c CLINVAR:486972 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6c7ed619-f183-4fbc-8c53-bbbbe097272f CLINVAR:486972 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91d4f80f-aa62-4f80-bb66-21a6b1491fa8 CLINVAR:818421 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 62708707-0221-465f-b25b-307813d47c2a CLINVAR:818421 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84688ff0-6bc6-4e2c-a6b2-d7444026bfc1 CLINVAR:184277 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8e6731cd-d513-4e36-bac3-0e271a832adf CLINVAR:184277 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfc0849c-386d-43c0-8f58-4ee1092be361 CLINVAR:1704153 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e1c334b6-9efd-4cf4-a723-0287ff3161bf CLINVAR:1704153 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfbb16d5-d68a-46a9-9825-9a2313776446 CLINVAR:1320976 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed9832ed-c99b-469f-b38a-8c863b9e3b03 CLINVAR:1320976 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2db4d4e4-4cf6-478b-9133-d373229c7050 CLINVAR:427589 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0865417f-a679-4312-9737-5433a5bfe3da CLINVAR:427589 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d504ac7-c457-4bfb-a59e-08e1934c13e4 CLINVAR:428243 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 15015059-4147-4a9b-bb1c-7f9bf51f544d CLINVAR:428243 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 148e71bb-03e3-471d-acb6-629b7e1ee32b CLINVAR:280724 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fb1e9929-0fd5-4345-a51d-bbac31fddf7e CLINVAR:280724 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f95cd1a-30df-49bc-b326-4411b41e0d84 CLINVAR:943637 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 96069c58-80d9-45c4-bb74-26ffbcf6268e CLINVAR:943637 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c730908-709b-426f-8ec1-56ac2fc1cf16 CLINVAR:428266 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2d3efc25-7155-4fd1-b2b6-336e2c2b0e69 CLINVAR:428266 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55545714-1e4c-4a14-8046-f296e5081c68 CLINVAR:233456 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 08ce21af-9ad7-4732-ac58-4a58edbcce6c CLINVAR:233456 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59a6e726-2033-453f-ab37-5851a22c6f93 CLINVAR:393451 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5bb2813d-585a-45e3-a6c9-6d0ab5e372c2 CLINVAR:393451 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f2831e5-7282-4899-90df-82d53edeb91a CLINVAR:435311 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5bcd22f4-43bc-4e55-a143-75ca4d71b0bd CLINVAR:435311 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63e4b1a9-837f-4fdc-8a0a-697c684ab0ca CA16020760 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 02d25d0d-b656-4778-b999-cc5a242bea50 CA16020760 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40496266-c943-4250-9a32-be26f6075ceb CLINVAR:211073 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 77b7e082-b968-44a2-b6ae-aa8598aeeafc CLINVAR:211073 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9100bd15-d322-425e-b958-60db1dd8ab14 CLINVAR:555864 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7b18c9c4-07d2-4f3d-a3bd-cbb8d9d91901 CLINVAR:555864 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6da6f1a-d285-4f0e-b9b4-e74b4741e48f CLINVAR:4024 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3f0e384c-7a1d-4818-ba8f-3918ee7b3619 CLINVAR:4024 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d22cf5a-9f3b-42bd-b2bc-e27e7e063b68 CLINVAR:290225 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb27fa4f-66f3-49b5-87dc-128a9fb0f5a8 CLINVAR:290225 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae5972cd-1486-4573-9375-0f332f7cf6ba CLINVAR:189007 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4edfe65a-bcb4-4662-a2bb-58ae478753ac CLINVAR:189007 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b6bac98-220a-4d55-b966-268529b62719 CLINVAR:285366 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0a7b1ef0-8e24-49d2-9b4f-6aa017c2de73 CLINVAR:285366 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f61f835a-c395-4a52-8041-44caf17b9751 CA915940648 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c10b2878-c4f0-4213-8a4f-397e896e537b CA915940648 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9f479ce-f5fa-4593-ac63-8be0159cdf89 CLINVAR:323546 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 55dde015-ba93-4bab-ba1e-2194fd2d1d67 CLINVAR:323546 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcd6a508-f2ca-4adf-8749-4d2a4c71f85e CLINVAR:888827 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8348c796-deb6-404b-a437-d0a28c842842 CLINVAR:888827 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7eded7e-1b24-4460-a903-c70a945b80fe CLINVAR:995104 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5441fc32-c2e4-4b51-9bac-92b67338947a CLINVAR:995104 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bee5c744-42d0-4bb7-a5bd-4ecd18795d12 CLINVAR:995103 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 68648bb7-117f-43a4-bf56-e675db7cf877 CLINVAR:995103 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6c4037a-a949-485b-826a-3737b6f3fe05 CA2573106065 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2e657fc6-66a0-43ac-9e54-c710ebec477a CA2573106065 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0ed598d-9840-4f07-8da8-19cce58d581c CA1139771343 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 53497091-d555-4846-9b15-b6f224f31c89 CA1139771343 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20256057-38a1-4946-98ad-20e12467b67f CA367397333 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 67851908-dd34-45f0-a0b2-2b45802a016a CA367397333 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f315f95-c4da-4b0e-9e31-411adbfe3eb6 CLINVAR:447380 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f1506429-9365-45aa-90ce-b83afd4b3be2 CLINVAR:447380 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00e84c42-d57d-40f0-b04d-47b0d2052018 CLINVAR:370043 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f0281059-f861-4445-9cda-2987093bb0d8 CLINVAR:9717 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5378aeb9-cd60-4f8d-a5ba-6378a58b49f0 CLINVAR:1026606 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f96b8e4e-da75-457f-a9ba-65de58e5473e CLINVAR:1026606 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c349e96-e9e9-4da3-a812-4d5667d36df7 CLINVAR:339811 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2e2dca1d-37c1-44d6-9afc-a586cba5dc6d CLINVAR:339811 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5221377-069b-4fd9-96e0-dcc31b329565 CLINVAR:760913 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 78ae9df0-eb5a-406b-a135-98f9d8b0a0e9 CLINVAR:760913 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80c0dd73-bb73-4884-b0c6-0746dfaa1038 CLINVAR:658195 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 51c3ec97-a791-411b-baf3-c814b1500e4e CLINVAR:658195 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 014b7109-307f-4b71-99ac-a49035293260 CLINVAR:409809 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b216db6-3334-4e4d-8a28-3c01a5e16fa5 CLINVAR:409809 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faf480a8-f637-41fc-b852-e72a6c2d293b CLINVAR:1118048 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 20ca2312-29ef-43ed-ac0f-27129676d09f CLINVAR:1118048 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4009978-09d1-4415-910a-ef29cd19059f CLINVAR:1150822 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0959b9ea-2384-4e1b-8489-59583bb09592 CLINVAR:1150822 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d72e3311-ce2f-471d-8ce4-b3b5623bea05 CLINVAR:961001 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de6b7951-6502-4881-8840-17bf11c89493 CLINVAR:961001 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e342318-cf5f-4125-8b76-659d1e6bf33d CLINVAR:415829 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c388dd8c-aa50-46d6-a206-2b003898304c CLINVAR:415829 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5300585-1a90-44fe-884c-7bc2007f0737 CLINVAR:464013 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e3ece91a-788d-466b-b901-b2a4827a2e9d CLINVAR:464013 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a73d3a6-9cd8-4af2-85c1-188881645876 CLINVAR:532665 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b999160d-1b96-4083-abea-523446983c7b CLINVAR:532665 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a9fb6cc-6ee9-4411-83f7-be7f584942b2 CLINVAR:843240 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 39899e1f-cce8-4a4e-967f-3104d5e6ef16 CLINVAR:843240 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01e3cf64-02de-4fa3-a757-5ef3162bf591 CLINVAR:858424 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b653c629-dbba-4783-8ae8-19f74fe74b11 CLINVAR:858424 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41f0d7c7-7831-4b0f-9b98-7ba3f4e4ffed CLINVAR:896170 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0eb09b7c-16f6-442b-b220-37e7478d3ae4 CLINVAR:896170 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 342aaefc-223b-4946-bdb0-d3279b6b95b7 CLINVAR:937756 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen edb4be35-79e6-4e0e-8516-86f93500911e CLINVAR:937756 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b43338cd-0b0f-4f68-976e-fff12d335c61 CLINVAR:946753 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bfea1fef-c37c-45d4-b046-2ef09690ef47 CLINVAR:946753 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b22ef1c-584a-47f8-b344-87c659578362 CLINVAR:948058 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 49b34cd0-0ee1-453b-9dc2-dca1b5842a92 CLINVAR:948058 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c64aecdb-87f3-4591-9de6-b9495bd34770 CLINVAR:956926 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f017984f-392f-4257-9fa2-cbabc73c7496 CLINVAR:956926 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeeea3bb-778c-4d9f-b120-54f8ead55902 CLINVAR:961354 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f23c0a8b-4982-4ed8-b65a-33b648baa41d CLINVAR:961354 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2483544-8a33-43cc-9183-f0d94f30fccc CLINVAR:966436 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 39b6280f-2e24-4ef8-8c8a-9c7f1b4ea139 CLINVAR:966436 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba5c8126-ead5-448f-ac39-3a2e0e3ca9dc CLINVAR:1002421 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 87ec8015-2e71-4aa6-a9de-e6ce7e1ae466 CLINVAR:1002421 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c6a1e0b-3acb-4262-bf11-f744b22464de CLINVAR:1010850 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b1f25d0c-bb87-4d3f-8e3c-30b0ead5226c CLINVAR:1010850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee834d43-9c10-4b41-a3cf-0c1402f0ad5e CLINVAR:1021717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd46716d-7b26-4910-8ace-dc2aa43fc05b CLINVAR:1021717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 322bcc61-ca43-4515-98ab-121e7bc7c4fd CLINVAR:1336352 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 910c549b-4030-45bd-928a-a8dd92e4a0f4 CLINVAR:1336352 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8652e157-a6eb-4051-b6ac-8ca2114cf0da CLINVAR:1378669 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dbd6d2ac-a508-4d2c-89db-7bddfcd601cf CLINVAR:1378669 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f3c59a4-b855-46d7-9223-b939589ea04a CLINVAR:1439341 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eddd1b80-7a9d-45dd-8b4b-d93855bee4b1 CLINVAR:1439341 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5df004c-634d-4f4f-a039-183010ee39f5 CLINVAR:1465820 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 389ba1a9-0996-42a6-aa86-71b701958e9a CLINVAR:1465820 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b2cc771-1354-4ff2-acac-e69be792b2f5 CLINVAR:1652693 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e576356-780e-42df-9b76-a590c8128d6e CLINVAR:1652693 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62905c81-42f7-4cdc-8903-ce9042b2d043 CLINVAR:1704949 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 644fba41-f48a-4893-a2fa-29f3ca267458 CLINVAR:1704949 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3c82cfc-5fde-4b06-862e-c5616b91c9a8 CLINVAR:1721570 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4945130c-59c5-41c9-9626-1fc153568581 CLINVAR:1721570 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cbc7f2d-02d0-45f2-81c0-89454d073d6d CLINVAR:2001260 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6e7aacbb-fbcf-464f-a548-3e8297f66077 CLINVAR:2001260 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e8abe28-6692-4124-9ca9-fc58c604dd0d CLINVAR:2060834 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd12a02c-c3c6-461c-a8a2-fe589063bc0c CLINVAR:2060834 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a45104e7-d7b8-4f3e-965e-ce42d9823eff CLINVAR:2061265 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3bf6f774-9ebc-485d-b76a-d14d630191b8 CLINVAR:2061265 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02b3fb31-f3de-45de-b8d0-2f36001f9b25 CLINVAR:2073628 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e9cd8d9f-1350-439e-ad07-1ef5829f275b CLINVAR:2073628 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 070747a8-0668-4b4b-a7c0-126574a0578d CLINVAR:2418762 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2878c6bd-e867-467b-abe7-30f5413e06e1 CLINVAR:2418762 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54509ff1-1d2e-478c-8720-3c150cd4e97a CLINVAR:2422003 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 304832f3-138c-47a3-9456-f0025a17ea49 CLINVAR:2422003 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11169cba-2b69-4755-82f4-7d485b13697c CLINVAR:1068986 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 598df82e-39b1-41f9-808a-3a8f6233f07a CLINVAR:1068986 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0f87802-fa00-41a3-a99b-4061a8c8d821 CA367403551 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ecedf44c-0531-4cf3-806f-c98fc24c09b6 CA367403551 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16643430-f1f9-43f5-ae0b-74bbdfbc05bf CA367402684 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd08a0ef-a48b-4295-8bbf-2854197debc5 CA367402684 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e650ab4a-9ebb-4f20-9328-2e3ffa2f49c1 CA4239602 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 625a9dcf-9891-4024-9877-2ec5e12a3a7b CA4239602 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8318ba2-af00-437a-8e4e-b6b81782feef CA367398804 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d5e781fc-865a-458a-a8f7-4a27bac45768 CA367398804 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f522ac4b-bc4c-4f74-9570-099923834f93 CA367402580 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5987e235-8a57-4f75-8224-aa16eb913887 CA367402580 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee7f3539-60a1-4d07-a14c-d7d972964558 CA367398628 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e311a351-b5fa-4188-a4b1-baa45c49e68d CA367398628 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52266247-ac8b-4990-989f-4d8e09284458 CLINVAR:1709730 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f78dec1a-93e5-442f-8226-8e129f5d78ec CLINVAR:1709730 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7f46f3e-235a-44ac-832a-0b0ba01ff0f1 CA367396980 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aacfc02a-de1e-4ea4-9acd-022607f98611 CA367396980 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbac469b-6140-4444-bd1d-5142ed8453a5 CLINVAR:432386 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen df572b2b-d63f-4c01-9c80-aa335015f88d CLINVAR:432386 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b835f17-b2cf-423a-a5b0-eb9169f064f6 CLINVAR:994613 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5ef8b600-b674-4a62-a3e2-e30d5877ce7a CLINVAR:994613 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6ed2ca3-9cbc-4527-ae13-9890e14c0f5c CA367399681 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 030616b8-3e0f-45b0-b373-32615c7aad80 CA367399681 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34b557d4-8375-49c7-a90c-1e9c50d140aa CA367399678 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 82411374-da29-4ab5-a189-9ba408dfa110 CA367399678 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 388d44e3-c2f3-41b9-b3f9-19390e111f1e CA913189165 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f1be6852-0618-4996-bfc2-420363d4274c CA913189165 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a5f42ab-c714-4c97-a08b-3026ffd98764 CA2580617739 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d5053fa9-54fe-47f6-98ee-ff9a33432bca CA2580617739 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c2b8eed-0526-4f8b-9993-7e2943960410 CLINVAR:36239 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9d36b88c-d2fe-4c76-918d-0bb574855057 CLINVAR:36239 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11e6e6ce-f6b2-4d91-a988-6da56e9be22c CLINVAR:36233 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 414550d2-ca69-4f31-9828-a18064026fab CLINVAR:36233 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da1082f7-7e73-4971-9d3b-e85be914566d CLINVAR:1490297 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b63a3cd5-58f9-4e3e-b3ba-30b19b521713 CLINVAR:1490297 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 318be710-3ad7-4219-83af-d87bdcbdb40f CLINVAR:995372 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 70d78e49-37e6-4932-93dc-0ba4944c2fe0 CLINVAR:995372 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 885c36d7-7bda-4488-beba-24756a5e05d6 CLINVAR:804856 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 87a93fbf-bc7b-4f51-9129-656611eebda2 CLINVAR:804856 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe4a44f5-7158-4337-989d-08cc695f1237 CA367401545 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3c1cd6e8-268f-4c19-9b55-981654179064 CA367401545 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04eb2d82-c36a-4f92-8a6b-a8db95447423 CLINVAR:198397 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 28c1e708-51d7-4794-9741-3d61d47c6457 CLINVAR:198397 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc6d80b8-814c-4af0-9896-4f2c9e963b2b CLINVAR:9212 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a389fab7-430a-4681-a915-4d6a50aec901 CLINVAR:9212 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5b2dafe-4e26-48a9-9ff6-48a2f8a892d8 CLINVAR:36190 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 401778be-1b6d-4e2b-b0eb-34517e96d48e CLINVAR:36190 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4693105-8dc0-4e0f-b981-b7d772bd34c7 CLINVAR:1496579 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 74c595c7-1922-4eeb-bd3f-29f0f611cbb7 CLINVAR:1496579 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44d71b0f-b22a-4e58-a89f-38dd2221f79e CA367399833 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7b9bbe37-9db6-48be-b7e7-c6b15ca0bb6e CA367399833 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1760e887-0e3f-4e91-9c87-1f67ee69dcf2 CLINVAR:846588 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1bb1a3d3-1256-4720-946b-f44acff29906 CLINVAR:846588 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4750999-7c4b-4083-b65b-54175b2767e8 CLINVAR:1338446 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a2b89a32-f2f7-4322-ad3a-5b562422678f CLINVAR:1338446 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 600918a7-445e-4854-b3f3-12767caf3b19 CLINVAR:1746441 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 10a57435-8158-4b27-bf11-cac217a1c6a3 CLINVAR:1746441 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2b8f77d-d8c6-4242-9c10-7aa1f5a078b7 CA367400539 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b7c92185-4f88-43a5-b074-ac9fabf85bed CA367400539 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1005807-7d79-4cee-856e-22ba052313df CA367400540 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8082577e-a3d3-41cd-8c52-0640ec9f28cb CA367400540 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb125e72-22e7-49e7-a9c8-2cff1f4e2528 CLINVAR:995101 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cfcb2125-45be-4650-9eda-5035924369d4 CLINVAR:995101 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffa59709-f427-40c5-b2f5-41d9b6ba80bf CA409106102 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ffe42db5-0964-4c70-b0d6-57b995d38f1f CA409106102 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e549c53-1340-4022-9e03-d45e58abe3ab CA409106099 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 36a97460-8edc-4a28-a468-35b757bd4829 CA409106099 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f259072-d8ad-416a-9504-836cbe80c28e CLINVAR:456370 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8a039e1-0cf6-4d18-a406-85f9f0e9f4de CLINVAR:456370 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 880c4a46-f84e-40c1-84bb-51c13df8b5d5 CLINVAR:632823 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1c8040ee-3901-42b1-a953-b98865c5f8cd CLINVAR:632823 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9dffd9b-bf81-4931-a0b5-8acdf41f0340 CLINVAR:289367 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a150a038-97d1-4bf3-81ca-0329b3db9a9a CLINVAR:289367 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cf18895-3f6c-4f24-a8bc-214b04c83ab0 CLINVAR:2151633 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bf78aec5-450f-456f-a1c3-2230cd88afaf CLINVAR:2151633 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc8b5e32-0e2e-4947-a55e-20cbeff7d8db CLINVAR:555820 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a561afa2-d0d0-4a4f-8cee-91f00ace2f7b CLINVAR:555820 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f47d838c-8076-43fb-b2c8-627ac2b2e6be CLINVAR:371622 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ecb8fbc4-e54d-420c-b722-765c0ef56718 CLINVAR:371622 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bc5230f-1288-490b-bf06-72387fff581d CA367401747 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 95a7e8d4-bdf5-4f63-8d38-1d798cf28e6a CA367401747 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62dbc41d-f0b4-439d-84fc-a6bc81995dbf CLINVAR:585921 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 78302c81-55c9-4c89-a889-9d084ae713d8 CLINVAR:585921 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86608373-82a2-4c51-80f4-14e255a8f73e CA367401907 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 431818e1-4f97-4363-9a3c-49776c323dd9 CA367401907 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 570916ec-a915-45f0-b859-858f41765531 CLINVAR:585917 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 18e450dc-1ebb-4147-be95-924c9b98682e CLINVAR:585917 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c9cc0d1-6687-4ba9-a4db-054d1bc7e344 CA367403544 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 37f2b24d-cc1c-40ef-92c6-1b3bfc045df8 CA367403544 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62a3252d-37a3-485c-9b01-afe64d0b87b8 CA367358349 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7cc7efa1-f445-4096-82a2-a4479353e474 CA367358349 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e8644b2-d73b-4436-9668-e02e3981e430 CLINVAR:561231 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bad1eb48-3129-491e-8ade-a8ccd96db3c3 CLINVAR:561231 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36ef6569-aec2-4265-be60-315d43560954 CLINVAR:1684431 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce7a6c16-3ab4-431e-b3e8-846c2569a1ec CLINVAR:1684431 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52bdfd05-9f91-4fc5-bb09-8bdc79fcd2de CLINVAR:1706546 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f076a7bc-549f-4eab-b4d9-ff71bc58fbb0 CLINVAR:1706546 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f5cc9f7-af27-41d0-8a6e-0580dbbf1311 CLINVAR:1073884 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3d31f6ab-7cb6-4d76-b6f0-3c0b8904ebd8 CLINVAR:1073884 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c753393e-4e04-4239-bf2d-45ca9b44ebd1 CLINVAR:945290 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dfe0333e-4b71-4e57-9a77-0cae2af035f8 CLINVAR:945290 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c22f4bec-e2c0-4254-a045-f7c4b32315fe CLINVAR:988837 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 952330da-cba7-48e0-9cc8-aa7f7e0f8a3f CLINVAR:988837 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a44cd28-65e1-409f-9374-12c8cdf3e822 CLINVAR:1074523 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 37b85504-0ace-40fc-8c1a-660995a3597d CLINVAR:1074523 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fbb71a8-b932-4cce-b36e-82d55adacf54 CLINVAR:2123057 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 95e8974b-5bd4-4902-a6a2-8046d5be2abc CLINVAR:2123057 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c151a50-87bf-47c8-9163-4e13e1be736c CLINVAR:647118 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8e813ba0-ded3-47b8-9a70-5c8447a83dd1 CLINVAR:647118 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb965a38-d442-48dc-870a-3c5b7a161998 CLINVAR:1684407 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f60035a3-7edd-4cc2-b219-9bfe76be61f8 CLINVAR:1684407 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 443751d9-06c0-4400-8137-795da97f3e86 CLINVAR:1691247 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 76105ae8-3845-4250-80c8-eaa37bfd0141 CLINVAR:1691247 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c84d8f6c-bad7-4d7b-94d4-9c5e8dc784e6 CLINVAR:1691248 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0ad3407e-972b-41f4-b4c9-8948395615ac CLINVAR:1691248 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c53bd9d1-d8e6-4b21-b5de-3deae579fd6f CLINVAR:978818 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aa7ac053-e8cc-4075-ae5d-476c993d8a1c CLINVAR:978818 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7123ce00-8e20-4573-ad56-385148e3bf50 CLINVAR:988416 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3ed5de2b-973a-4f17-9398-366f7836565a CLINVAR:988416 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57c66023-81c8-4dbf-b07b-4755ff635445 CLINVAR:1013619 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0178e739-a2b6-4c34-9579-ebbe017dd9f5 CLINVAR:1013619 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0772fe4e-631d-49df-b059-37b48be5969f CLINVAR:1071785 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 55542c21-b6fc-412d-b7e1-62a24b03a927 CLINVAR:1071785 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9c07755-7c9a-4262-9a52-a6a67ce96c50 CLINVAR:1692643 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1de8f97f-60b8-4b82-aa8c-4e16fe041528 CLINVAR:1692643 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba2cd758-7884-4958-9b64-a78e021b37a8 CLINVAR:417476 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1f90c545-e5dd-49e1-9f5b-4bdd29672640 CLINVAR:1460018 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 01af06e2-0ed8-44f8-82be-dd88a1bc2861 CLINVAR:1460018 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 592106ef-46eb-4cd6-a53b-521c431ddd6e CLINVAR:832666 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 12e42157-b142-4047-8557-12bad9f49957 CLINVAR:1073907 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 27d7d748-bf49-4df2-9439-240b0dda0df8 CLINVAR:1073907 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30da2428-0e95-4c5e-9df5-468293f057e1 CLINVAR:833071 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c3135280-62e3-4186-af85-13163a4f5d93 CLINVAR:871175 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6421a56b-032a-4b98-ba0f-07c8e769c927 CLINVAR:871175 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc9f6dfa-5883-453f-ab31-c035b736a28c CLINVAR:1065583 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 70db241e-0580-44ec-bc8f-0f5f8cc4d07c CLINVAR:1065583 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c039d7d-0778-4eca-b570-2e91b96b3f74 CLINVAR:389962 biolink:associated_with_increased_likelihood_of MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 15edeb84-5882-4dd6-80e5-4cd56247403a CLINVAR:389962 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea3eb8c9-f1c6-43dc-868a-3d3a66e59e18 CLINVAR:1518631 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d38e82ab-5083-4bf0-a824-aa490b04dafc CLINVAR:1518631 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f430e5c2-2d6f-406b-ab66-02747f6775ca CLINVAR:988808 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 06cb8ce3-61b9-4fc1-876c-722c115426fe CLINVAR:988808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3235866-6711-44c6-877a-63649231bbad CLINVAR:561250 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bb4de244-1c9f-497c-9847-4f48212dded3 CLINVAR:561250 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d49e82af-2670-49b9-9d3f-199807aaa749 CA410207975 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f331915d-33b9-46a2-be39-e524c707e3f6 CA410207975 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52a8d538-9eff-457a-b1c6-2758f23e6c18 CLINVAR:561251 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 96ec6af4-2517-4d84-a014-8cc2813a68ec CLINVAR:561251 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f00b7893-04ff-4e2e-af08-c89e55cff77d CA2573320718 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 26a38878-42b3-4229-8545-44d0cf93c544 CA2573320718 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f52aa3a3-3af6-4b3a-8f4b-fc5e3d5651c5 CLINVAR:2011850 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 62298c84-b281-4bf8-8f93-b3fae92f9ad0 CLINVAR:2011850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c92c307-69a6-4b1b-99ff-c178a7ef95d0 CLINVAR:2003897 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0ae64c2e-d57c-4250-af8b-2dc4a2dd4dd8 CLINVAR:2003897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04337b22-8a98-4862-ad1d-1a62df206b15 CLINVAR:2014537 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2311a7b2-d744-4afa-8321-576b13fd3eaa CLINVAR:2014537 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b632363f-8648-473d-b05f-14ee0c221807 CLINVAR:2504110 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fa6fa857-8589-46a7-a5b6-3d3b36088d67 CLINVAR:2504110 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c890f32-2258-4dbe-9f60-ac44e91ed733 CLINVAR:561234 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4989d731-93ff-4dc9-9462-64b2a650d719 CLINVAR:561234 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be222ca7-b0cf-43ad-93ca-1e33ad906f65 CLINVAR:1338536 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3925101b-200d-42bb-815e-b785c9164dba CLINVAR:1338536 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6b1149e-d879-4bcb-a997-234e64440d59 CLINVAR:2129871 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 68190be6-4aed-410c-a26e-4ef58ed954a0 CLINVAR:2129871 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 668a7bc7-e59c-4980-96b3-cac9909b6e2f CLINVAR:836448 biolink:associated_with_increased_likelihood_of MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dd2ad13f-28e3-4865-8c6c-314f29c2d0a4 CLINVAR:836448 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a84e374-113a-48de-84f8-e78207d547e4 CLINVAR:1996223 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 306fd197-d162-4c3a-b89f-0d71419b5e08 CLINVAR:1996223 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d080dc22-c07d-4309-80c7-e3bbda5389b4 CLINVAR:2177591 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9bfb227f-f37e-4e2c-81d9-abc2a963479f CLINVAR:2177591 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d4603ec-ff50-4588-8c97-aaa4025c235a CLINVAR:1703793 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 94e20ffa-62a7-4ac7-9ab2-095ecd5c8238 CLINVAR:1703793 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b501a4ca-07db-4e80-888b-dd828cbe5327 CLINVAR:1349747 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 89f7305e-ca49-4353-af4a-a7e19e47791c CLINVAR:1349747 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5381fb8-5e8d-4132-b6fb-390a6a09d712 CLINVAR:812913 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e84b177b-5d4f-41f8-a569-4a56fa192887 CLINVAR:1067688 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a1e9737c-cfd0-4dc1-97dc-46ab2e83c825 CLINVAR:627152 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 98c4b746-6c61-49a8-834a-cfb654e2ed14 CLINVAR:627152 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00b54f08-b9b4-4a8e-a72b-86f4c59613c3 CLINVAR:1074352 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 306aa015-8c8f-458d-8f67-b73e46b65c7a CLINVAR:1074352 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0219d2f7-7f18-4f11-a9dd-44bfd53d6098 CLINVAR:1013200 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 86ddd77f-0637-4f6e-8cd1-c9e4c6695a8b CLINVAR:640550 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cbb92ab1-0439-4e24-b91e-4128e8c24bc1 CLINVAR:640550 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ad7de1f-97b4-41bf-9ce5-dec5bb1af0d9 CLINVAR:189402 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 79fb8e9b-a299-41bf-bcb9-b1cb74a00d28 CLINVAR:189402 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38de3c6e-b00d-4c48-96f1-4ea242022d96 CLINVAR:373446 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 774d9eef-b357-4a9d-ad02-1bd4e112a57b CLINVAR:373446 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c54eb5c-9110-4729-9297-e4a4d7117dba CA367402681 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2a4d4f6c-b029-41b0-8c7b-78ec3a8d0f59 CA367402681 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34d7264c-a491-426c-a286-6440207135f7 CLINVAR:585918 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 67e31d4c-1fbb-41b0-b497-03e820571928 CLINVAR:585918 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3db6ecf-232d-412a-b317-5f43e6ea51bb CA1703634895 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7750fe2c-3a88-4de9-a85b-6dccde00e57a CA1703634895 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 110e0af1-4f24-4fb2-9b3d-82d46fda1f15 CA16621927 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 70458136-15ac-4dd2-995f-58ed7bdf568d CA16621927 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ab220d8-a3b0-4e79-8665-156613c6a532 CLINVAR:280031 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 155c41ea-cb7e-43cc-9a8a-e2d526d7fba6 CLINVAR:280031 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 792d2a45-718e-4f8d-89e8-f98bf1905324 CLINVAR:2073656 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bb7a09ae-3101-4807-9140-b28d2ed4ae74 CLINVAR:2073656 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cca77a4-f003-4cb9-9d53-00f29415b44a CLINVAR:450754 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3d315075-de0f-45e6-a047-b853e3c6348d CLINVAR:450754 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75b6f286-9a86-4521-9020-c297c5d46c6f CLINVAR:890134 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 540d7b5a-8766-4147-b753-e92b09a61cb0 CLINVAR:890134 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 170ba9a2-e3fd-45b4-84ed-29aea81f54fd CLINVAR:1684324 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 666244b0-d597-42f3-bb8d-edb455b6061c CLINVAR:1684324 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daf63ddf-ba1f-413b-9e5b-4792bf82e7ab CLINVAR:1048589 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b169682d-f4d0-4495-9b9d-c444364a64a8 CLINVAR:1048589 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e7ea6a2-d7fb-4d09-8e31-bfedbbf835f8 CLINVAR:1348299 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eb15db80-7fb1-4cb0-a939-aefad9b24c3a CLINVAR:1348299 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 281b7be6-0382-4d47-bd67-ae0197631d5b CLINVAR:456402 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 56f706b3-0882-431e-9d55-72954633893e CLINVAR:456402 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac371040-66cd-4ea2-8190-bcd58eecaf04 CLINVAR:593593 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2861539-893c-4748-9055-e2df60562790 CLINVAR:593593 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6cff480-e8bf-484f-8acb-ed5995306f2a CLINVAR:664582 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4148d147-0c65-4621-96a4-730a7637f46b CLINVAR:664582 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72fd051e-f889-41fb-84fc-5960c17a23ca CLINVAR:285589 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5baaa410-502b-453a-a9a3-93fefb43e248 CLINVAR:285589 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9924c4d-8e47-430f-9fbf-25e0c1aaaeac CLINVAR:510585 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a4505867-fe03-499c-af3e-ed143c4d14c1 CLINVAR:510585 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31f6f1bd-1f44-4dd8-813b-c79ad323cf06 CLINVAR:447518 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2067dc8e-c283-44d4-a0e9-89d04f527357 CLINVAR:447518 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81e8972e-487b-4534-92a4-903464c14dbf CLINVAR:972785 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8ef21d2d-2e07-4b38-8882-e7224e985d60 CLINVAR:972785 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b51b73ea-78f1-4593-84a7-04022fa79991 CLINVAR:586019 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen edfb5548-be1f-4065-b035-673488fe5c3e CLINVAR:586019 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd2fae76-a103-40c8-9d5a-06330a75710f CLINVAR:133249 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 03bac65b-4555-48f9-b8de-c7d759b12648 CLINVAR:133249 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1545a2dc-f110-4891-b55d-4c400283afa1 CLINVAR:102688 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 436d49b4-87d9-47d5-bdb7-ae5dfed2ccfe CLINVAR:102688 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 474b41c1-1f50-4e2d-a893-330c3008edb7 CLINVAR:188933 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4629cda5-c57f-45e9-ac85-9380f405ddda CLINVAR:188933 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1335e06a-ab41-4011-9fa0-3c0eeeff12ae CA16020772 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c97e49d5-0cb2-4095-8106-aeff9309ea19 CA16020772 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1951412-7b28-4c4b-98c8-f968d9f8a124 CLINVAR:102639 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3064fafa-7f6c-4e66-8d44-b524c7f3b2d9 CLINVAR:102639 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72f70e3c-b8b6-42a0-8384-ffaca3e4462d CA16020833 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a7088638-7e3e-40f6-ab39-ea0a44b9fad1 CA16020833 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56679b4c-7b2a-4262-965f-3369eb65c9c5 CA10602335 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c40a8745-2528-4dcb-bfa7-9105790b6376 CA10602335 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab43e1bf-f957-41ba-a6b9-53fc1e670ce2 CLINVAR:1458264 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cf967305-acfc-43a2-8250-4ab3def3dc5e CLINVAR:1458264 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bc47f2e-b22e-4bb5-8621-fa459d7f84d1 CLINVAR:102899 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 83e8a8c5-28ef-439d-ac9c-eb1b91827a14 CLINVAR:102899 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e715451-d33a-4101-97f4-af1a4945d219 CLINVAR:102896 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5add51c5-aef0-462c-a52b-dc246b579994 CLINVAR:102896 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 448b7921-ab34-4790-96dd-cb6932f94f0d CLINVAR:102586 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2ede06a4-abba-4c30-ae6c-07b4745b96b9 CLINVAR:102586 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 272bf770-a222-4c1d-97d5-752a8fe6690d CLINVAR:102907 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7718a784-6e07-4a61-87d9-380e36c07230 CLINVAR:102907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b2df94e-d231-4218-aadb-766ee5bc36bc CLINVAR:102904 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c2eaad1a-cc56-4f81-9176-5b4f36fcb729 CLINVAR:102904 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fbc1bc7-28a3-43c6-9b42-f6c394c8a8ec CLINVAR:102912 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2b191278-6b98-444c-9589-91408c91bc2c CLINVAR:102912 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56f7c20f-d720-41ac-b4f6-423a5a316bce CLINVAR:623 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 31e94edb-ddf0-4b81-856a-9beb142dc872 CLINVAR:623 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ff03006-a49a-4558-8f2c-0f5d26a36a68 CLINVAR:439226 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e84eb2e9-afa8-49fe-acfd-4246666826c6 CLINVAR:439226 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ca76931-ccd2-4fdb-bfc0-e3ed01c1d625 CLINVAR:689636 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 57954743-415c-4ba4-987f-a244c22fda4b CLINVAR:689636 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bbddb20-d4a2-4fc4-bb8d-3d23445cadd0 CA367396714 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f07868b1-03c3-4905-80a8-c86b9bc63436 CA367396714 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8a91afa-ad96-41f6-b5cd-afe700a88066 CA367403522 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a65b4259-b5f5-4f94-a0ca-a00f0fc437d2 CA367403522 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f865c1bb-f4e8-4a7b-82b4-eaa43c4220ca CLINVAR:420070 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 91570850-8e29-4583-8cbc-1b5242b61dc5 CLINVAR:420070 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0a089bf-41ee-4e9e-9e1c-f4e3b044b562 CLINVAR:129142 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen abae09eb-fed6-4050-8192-40e14d59df75 CLINVAR:129142 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d8f7c13-443c-4f68-b8af-8b3c0b869998 CLINVAR:439709 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e2f8c1a-07c5-4846-834f-cf0bd6e5a6fc CLINVAR:439709 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88f2dc77-fa00-45b7-bb76-a02e9b7c4d9e CLINVAR:1083041 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a8d80553-a899-4da7-a6bf-6bbe53b6f84f CLINVAR:1083041 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 725911ca-29c0-4f58-9f40-3ddbacef9d6b CLINVAR:1125979 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f3560fb1-62e7-4e77-bfce-97ac6e6c426a CLINVAR:1125979 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da5914bd-43e0-4565-b309-39b6ba353d27 CLINVAR:224133 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c63a8d70-e045-4ac5-b365-4fdf491feada CLINVAR:224133 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bcc0bea-1f5d-4987-b187-93e9e3f5b3a5 CLINVAR:502478 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3052ab47-310a-46a0-a2a0-17082dcc09d6 CLINVAR:502478 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44203f4d-52d3-4b13-ac8a-ea228451b74e CLINVAR:932847 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6602bd04-fc3e-4072-8347-1ca14d9734de CLINVAR:932847 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a82072f-9573-4578-8651-2d41863a4e43 CA415087450 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c6d2c80e-c37b-404d-88f3-0d57ff6c05a3 CA415087450 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c65e43f-d20e-4723-8f28-dd2927e16ff2 CLINVAR:203574 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5ccde2ba-e53b-4cc4-bcf1-c65ff592fb9d CLINVAR:203574 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6b0a212-d58e-498b-9a60-3fbe5c150efd CLINVAR:11698 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen faa2a829-b96a-4d32-b384-64dd06fe3597 CLINVAR:11698 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 180f4403-e1c4-4b4b-974a-3c81a0aa50aa CLINVAR:429893 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d127a65-70dc-4c00-a260-055ab2726b36 CLINVAR:429893 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41f311dd-e25e-4a83-b0c2-ca6f5c135fd0 CLINVAR:421767 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d6c91ecb-73a8-4d75-a218-2a88a6ba71cc CLINVAR:421767 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95270b0d-f271-40d7-ad16-88ae306570df CLINVAR:1319163 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b829d29-872a-4962-8fae-d53110fdba02 CLINVAR:1319163 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 650f4350-0508-41fb-9cb2-974dac9cb54d CLINVAR:328352 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0a82a791-e983-442e-8816-8ad751de090b CLINVAR:328352 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f26dfec-3a54-46c1-a9e2-642564a9746c CLINVAR:16466 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fef751f1-9e3a-4daf-8b2c-6be82b4a5c21 CLINVAR:16466 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbfc3cb3-2948-458c-87c6-d2217bcf7c51 CLINVAR:155951 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f0ac783e-9f4c-47b4-ba26-49891fc43e7c CLINVAR:155951 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb4315fe-fbb6-4d51-8c79-534925406c47 CA2579985999 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c028394a-8069-463e-8180-f32a037cceaa CA2579985999 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f7f0df7-d41d-4111-b3ad-8f24226a8785 CLINVAR:956400 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 13ba6716-4535-497a-9bf8-16c15434e1d8 CLINVAR:956400 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09baf9c2-c1d3-4600-81ff-9301059669c6 CLINVAR:2412845 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a0785ff2-23cc-491b-a9ee-5ca832a58792 CLINVAR:2412845 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdeb423d-5b87-45ff-9403-15565008b899 CLINVAR:65692 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 15c30871-1a93-4f76-aa97-d8ff04faac69 CLINVAR:65692 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46f0f63b-9f28-4ab2-9d4b-b5c04de6cdde CLINVAR:932737 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 191911d2-0df6-49dc-87de-c8595be41f0e CLINVAR:932737 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f0852a8-0f7e-4e16-854b-ff23797664d7 CLINVAR:636961 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4a33f30f-52d0-4228-b6b1-a6293c67e5db CLINVAR:636961 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15bd47b5-0a07-4c03-af50-011e05a365eb CLINVAR:867228 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d00c759f-6e21-4cce-b432-25e7a51f8e56 CLINVAR:867228 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1d916fa-5d24-461c-89f4-1ce77adb445c CLINVAR:858462 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9c9a1ee3-a518-4c27-9761-1176567c6dd8 CLINVAR:858462 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09bd3027-4591-437a-a966-a1754a83a462 CLINVAR:572229 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4a153e6e-b472-4d03-99d1-527cd7c1b4c2 CLINVAR:572229 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13f282d5-ae6c-40ef-ab75-f7cc480b22ca CLINVAR:549451 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5709a54b-45dd-498f-bdf1-3b78c912edb0 CA397723375 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5b59a004-d9eb-4529-9856-2d567674b412 CA397723375 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e982275-1a1b-430f-9562-56260b759ad1 CA2580610966 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8794e544-0bb3-49b3-8038-0ab2cc5955e9 CA2580610966 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39276050-f65c-4192-85c3-e892b57e7a5b CA415090844 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 10ade30d-d50b-4737-934e-61344afc3322 CA415090844 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77880552-3274-474e-be70-5d9fc364fdad CLINVAR:549178 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7d0ed1ca-5dee-4ae4-aa79-b5a9a54171f7 CLINVAR:549178 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe00f5ec-3aa5-43aa-91e9-7c555040afe0 CLINVAR:2138184 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b754459e-9aab-4fc3-8a4f-1af4c38e43fe CLINVAR:2138184 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62bcf9c9-6be0-4218-a43f-7165a790dc29 CLINVAR:1387019 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 02ba0cad-7434-4dce-9790-b1cfec457c69 CLINVAR:1387019 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebd2f4aa-9a28-48b6-af27-5ddbe98e1ef9 CLINVAR:495563 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f6ef0dab-be51-4f3b-b706-0ca5f43fc218 CLINVAR:495563 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bfab130-c952-4f94-af26-ba435ab7fc4f CLINVAR:477251 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1dbef6cb-dbc4-4345-ac7d-5d8f9a0df142 CLINVAR:477251 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2de87e4e-2b79-4f0a-9b77-7ce90631a243 CLINVAR:2419155 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eac36dd3-f0de-4bc0-8244-109a2b5d0ba7 CLINVAR:2419155 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f2f384a-c8b1-4b44-a105-689bee3b5715 CLINVAR:374123 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 80a65746-86d2-4a87-856b-c90e394beb99 CLINVAR:374123 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0da39ad7-bc46-4a14-8151-e9b8e3963b09 CA415084391 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 73752865-bc72-46df-b819-bbe361ccd728 CA415084391 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71a42f5a-7315-4ec4-a1a2-75125160e319 CLINVAR:420991 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a047d460-a7d8-4cb5-9957-08c225abcd66 CLINVAR:420991 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3c9113f-1cc0-40b8-abb0-aaec39d0c5db CA397723872 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0cdecbac-9592-4405-947c-fd9dec0bd533 CA397723872 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41190a64-823a-4307-9c1b-909cd405a6f8 CLINVAR:11696 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1546b0c7-007a-477f-91cb-5ab9b6f42790 CLINVAR:11696 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b274adf2-bd0c-499f-b2be-1582edac82db CLINVAR:516841 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen abd2790e-6965-4dd3-a817-f1fa7c30c606 CLINVAR:516841 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72bd3d4d-6834-4338-a1e4-428dd1058105 CLINVAR:549024 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b1c44f89-c163-4895-80ba-07f86d910c5b CLINVAR:549024 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b46a10ee-1a42-4282-a58c-2fc6e005799d CLINVAR:804917 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c21ccf96-836a-4a84-b458-ab98a16ce4de CLINVAR:804917 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a58d446b-49f5-4c92-ad1d-6f37dbcd3000 CLINVAR:695019 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f1b7c8f2-9e21-4d00-896d-be3b9755c78f CLINVAR:695019 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b7d45f7-b342-4a78-864f-b28d2daf2a17 CLINVAR:549476 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen be540067-6378-4064-9d15-fb2ecdf15dc1 CLINVAR:549476 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 560f7e31-a3c1-4759-a832-233fe8aa9b9c CLINVAR:661301 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 68ee7909-cfcb-40ae-b3dd-8f488acda494 CLINVAR:661301 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1221ff64-4097-43f2-bb47-e0c7183718b6 CLINVAR:163461 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 806e92ea-43b1-4b48-ac44-dd9ae91792f0 CLINVAR:163461 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa2571e2-442c-4a6c-8ff6-84c3f824f769 CA415090882 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 93d8f169-4df8-4d08-841f-263a1552070a CA415090882 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f23dc30-8cf0-4361-83e5-de6151c6e9a9 CA415086484 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1ffd5233-58f4-44cf-8d22-a89cb334f624 CA415086484 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f63684b-bddd-4ebb-96cf-3f0f19ea137b CLINVAR:254305 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5eea4824-61e1-48f0-ab26-bdb3a5ddcadf CLINVAR:254305 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da7b1212-278b-4059-bb03-08b5809d128c CLINVAR:549013 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9aa5aedb-13e3-4bdd-b229-ad87f7126961 CLINVAR:549013 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c90dfbfb-7f34-470b-ab71-c69c4a928a0e CLINVAR:548999 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fbb6e22c-1369-45b3-a089-df05cf8ff045 CLINVAR:548999 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e911da0-3214-4d59-907a-8829b0f8b26c CA415088445 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2ee94ed9-391e-46f1-9906-1ee51a0941a8 CA415088445 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54259381-a40a-4fe0-a6d5-c1aef450769a CA2580610965 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 34929c21-ec67-4890-9c38-3c05aac0b74a CA2580610965 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 301f1158-5932-486b-bc77-82f59637e058 CA8338094 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a178301-3093-41d0-b411-e1992d2c0de1 CA8338094 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd0f35d7-1970-46e3-882b-c56febd180e8 CLINVAR:200193 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b8cfcfa4-0162-4d6e-a66f-3d0434c76b99 CLINVAR:200193 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa8ab34e-e8a3-4e90-8ea4-1389a9249372 CLINVAR:932846 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 44a128da-1212-4b22-a775-b1c0cfbc10b7 CLINVAR:932846 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91d08fff-4fb7-4515-8687-ce161d4220cd CLINVAR:636640 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4c7fb0b6-4b8d-42b9-afc1-c234842260dc CLINVAR:636640 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 404c86ca-ac46-4b12-a6ab-f005c3ea3064 CLINVAR:429431 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 94f98e89-b1af-4213-957b-613cdf035584 CLINVAR:429431 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d9fdd6d-bb89-4d39-a9f7-04cf87c233cf CLINVAR:178034 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c6920d20-baa1-47ef-9967-8e48a248310d CLINVAR:178034 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4272e576-3b24-4b7a-8d78-dc3052d86e62 CLINVAR:544257 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 03f0a4c0-f2da-4e8b-bc27-280afdf4f13e CLINVAR:544257 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9cb20a0-2b99-4f5b-b5d7-5dde396d6f4b CLINVAR:549229 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b1dff071-8935-49bf-897f-7d7f9c9403c3 CLINVAR:549229 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 739468f5-f4ab-411a-852f-50f83ebd86fc CA402996857 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 825ce838-8b41-485b-a7b0-b524b68018a6 CA402996857 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3f2b38b-2991-4694-ad6f-bb35d703d556 CLINVAR:554546 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0fe76ed6-8aa5-46bd-99eb-4f89c974708a CLINVAR:554546 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd6deb7d-37ff-4d68-9ef0-ed21b527e1a1 CA915940477 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 541e2b42-5d28-4b3a-8621-1b6ef117127c CA915940477 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abdfd21f-8fc0-477f-ac54-e797006bd25b CLINVAR:588631 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e95b85a8-4aa2-4a8d-9651-e6137de21af5 CLINVAR:588631 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 785fb578-3aa8-4928-adb2-7eac77d3aa5f CLINVAR:646976 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bf64923e-6f02-4c41-a269-63f3d7bd2ce9 CLINVAR:646976 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e7024b9-8de4-43ea-99a0-2b6cd786dbe5 CLINVAR:932789 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1b64e84b-3d8c-450a-9f1e-e97564ae7656 CLINVAR:932789 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de3379ad-5a7a-460a-afd1-fe66d812a5ce CLINVAR:522433 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c2e2ef5a-f8b0-4343-bf78-7677e99d3ba5 CLINVAR:522433 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4e97251-8d74-43cf-be67-24fcfafffb95 CA402996840 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f7e99de5-1165-4917-8ebd-bbf5bdb0dc16 CA402996840 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a081612-a5ae-4fc2-ac64-053b49df1be9 CLINVAR:549001 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3ffa9bf1-48bc-4b9f-8883-3775274bdc6f CLINVAR:549001 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcb1da82-8240-4d3f-9358-1dd899198957 CLINVAR:1703957 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4ef94dd4-7fd6-4941-b656-76783be32718 CLINVAR:1703957 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1b064da-8042-4a4a-a646-01375e317aef CLINVAR:477250 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07ea4666-2138-477f-a65c-706648405fee CLINVAR:477250 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b8be6a1-4201-4879-b3a5-b3f34816e604 CLINVAR:1143525 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b2ad6197-7997-45a1-a146-4a402a71c1a0 CLINVAR:1143525 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1364f7bb-0254-48e6-8508-ec130054228c CLINVAR:406288 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a1a6ae61-e07b-4b9e-98e4-7790ce9da632 CLINVAR:406288 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cec03aa1-28f0-44ad-8f4b-341e432b4a3a CLINVAR:818179 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1bde12f1-3cf6-4c54-90b6-0729dfc4a0f6 CLINVAR:818179 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 237ef87c-269d-464f-9f2d-cb34c2d95f89 CLINVAR:11700 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 888f9762-0e68-4e86-9cd6-4e8a2373a2a6 CLINVAR:11700 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 397a3f7b-8789-4d5b-a8c2-a40934f2028f CLINVAR:1003911 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fc97c434-b3bd-4bc7-9f30-e399d59ab683 CLINVAR:1003911 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd05f0d0-dffa-46bf-a219-51e967124b69 CA415087684 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 828d19ad-225a-4c5e-84f3-c3fd58cde9d4 CA415087684 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5409036e-36d8-44bb-941e-35a814af5de1 CLINVAR:892468 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73045568-dfd8-4ecc-89b4-c5a0a54b87bc CLINVAR:892468 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0118111c-5b6e-4687-8621-264c317a983e CLINVAR:706747 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c88092ee-95e8-4fa0-a12b-5e8312c3f1e4 CLINVAR:706747 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6662e47-ed38-40cb-950a-9759b68e2b88 CLINVAR:2421360 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d48243b5-5dc5-478b-a0af-89b037b599bc CLINVAR:2421360 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de225cbf-9b01-4677-bb67-0a6024014382 CA402991093 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2ba07f22-6a29-40ad-96b3-0e7346d892fa CA402991093 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e90cb8b-79ef-4370-a1a7-ed0dac92ebd2 CLINVAR:180355 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9b8f4fac-f491-4664-817c-9be5c3373b46 CLINVAR:180355 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daae499b-a858-4371-9e6c-9572161c9988 CLINVAR:1325422 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bbbe5d33-9b06-487a-874e-88b77bc3686c CLINVAR:1325422 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a055d999-7d3f-4120-bce5-c6546b48fe4b CLINVAR:495609 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 78a6b05a-c2bc-45f3-bbb2-34a525b70490 CLINVAR:495609 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd9013d6-86b8-4660-8a8d-389c24618de3 CLINVAR:155793 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e19df883-f9e3-4423-943f-ba1346522579 CLINVAR:155793 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4346cb5f-2894-448e-aac7-31e4a2e3b88c CLINVAR:222604 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f35056aa-e962-42c0-bd54-2ac660371599 CLINVAR:222604 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 883200a1-622c-48bb-b430-a0347f7160cd CLINVAR:449440 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen be0f2b93-1c67-468e-9ded-f3ef24859674 CLINVAR:449440 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 752cf167-ccc2-437b-a4c5-92192e6537c4 CLINVAR:626882 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e5c24523-a28c-44e6-b03d-a5e5d8231aec CLINVAR:626882 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c91c55f2-a6b2-4963-aead-cbfbce88225d CLINVAR:495599 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d4d49d29-57a7-4855-93bc-74e6e0379230 CLINVAR:495599 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1aa7783d-a0fa-4632-973d-b11923fad675 CLINVAR:495594 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b6e165b9-9992-410b-ad01-355d9ec76d6c CLINVAR:495594 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b52359b-710e-4edf-9851-2c4f971216c1 CLINVAR:549169 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68f4da54-4237-4e70-968d-001820e756e7 CLINVAR:549169 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0759e92d-f3b8-425d-b854-45d4ae40d40a CLINVAR:263660 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7f4b0095-4c0b-49d5-8a15-a885797634c6 CLINVAR:263660 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23d5f1fb-a82d-47b6-9d9b-423351f0ecaf CLINVAR:928903 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b639eee9-76ad-4956-b9ee-13ccbe5af938 CLINVAR:928903 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbe5bd58-313c-444d-ace9-cb8e2a337d25 CLINVAR:222600 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 463383a5-a632-4c85-9d97-e5e55a9c2f6f CLINVAR:222600 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4cd52e5-c1c6-4670-9a46-28d32441b71e CLINVAR:549150 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0b21aa2a-9ca1-4617-bd02-0e2c49c450b0 CLINVAR:549150 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed0e3361-e442-4659-93dd-f06ae12e5f5a CLINVAR:915814 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ec17f180-16c9-494a-a975-6dc05aae62c3 CLINVAR:915814 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f75fa92-b2e3-4836-b490-3fd74b5ebb25 CLINVAR:264089 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1f1e5e1f-d766-47d2-9ea0-d9a1fa0dba87 CLINVAR:264089 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47e99d92-3dea-4ed6-af0a-d51fc613957c CLINVAR:549070 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5d84321a-8673-4646-b7f5-094dbe34c358 CLINVAR:549070 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f541158-c737-4a8b-a6d2-5bbdb10ed3cf CLINVAR:519758 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e750c4b7-5882-4aed-acbb-84d32212b5da CLINVAR:519758 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e2bc9d5-e9dc-4816-bc7b-061a8534d1f2 CLINVAR:98872 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 51059565-b231-4acd-90ca-97d013472c34 CLINVAR:98872 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cc9ab8b-ed67-4d80-95b9-e139549a5eb7 CLINVAR:13114 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3766c895-815a-4824-988f-9ec4c0540837 CLINVAR:13114 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc0378af-3619-4b28-819b-c16b4e46b5ae CLINVAR:98880 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 511bd41f-34a2-48d9-ad97-f688ba61fc94 CLINVAR:98880 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f80b1e07-b74a-4abc-bd4f-b31ce9593fa1 CLINVAR:660359 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 70f6bfa7-5245-41e4-a431-42a5590a0972 CLINVAR:660359 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe2c09b0-091f-4270-b282-534d7d9e056a CLINVAR:98899 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 15056be7-6f1b-4c19-a312-9173a336f47c CLINVAR:98899 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78f8730d-88fc-4434-b459-1cf5a042cb52 CLINVAR:98825 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a114df40-3337-46cc-baf9-ae41dcf38fd0 CLINVAR:98825 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cd5b95a-3d36-44b8-b4e6-617c207ce364 CLINVAR:1067786 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6207a732-ed87-432b-8cc6-05d5d0365c2e CLINVAR:1067786 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c79ebc17-7a2b-4184-a05a-7908c2d12b73 CLINVAR:13117 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c2939a0f-b427-4ed3-80f2-9696322fc54b CLINVAR:13117 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e45024f9-c58d-42d9-aa46-d1a854317142 CLINVAR:1070755 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1a26ee40-52e0-4045-96af-3d38187efbc8 CLINVAR:1070755 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e05b424-beeb-4b3f-94f0-e90192a7df9c CLINVAR:1380036 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2c854e5e-7589-4c56-971a-85472e976eed CLINVAR:1380036 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 423796b3-c497-41bc-9207-0fc0d6fb218d CLINVAR:547296 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c93ad1ef-b765-427e-92a7-d2c7f206c71f CLINVAR:547296 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af6abd20-81fa-40e0-929e-83b98242a062 CLINVAR:555394 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7295360b-cdfa-49bb-b4cc-4de7c1f41c5b CLINVAR:555394 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c13a1152-ffc3-4422-9d4a-d7504d621c86 CLINVAR:1023481 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5c6a860d-bcb5-444c-ba33-20b3c80901a7 CLINVAR:1023481 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2977e6b8-f244-4bf0-b3c7-55b2e49baf08 CA402998134 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 06b6a9fd-034c-4c99-95cf-a5b499e4541a CA402998134 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 057e58d1-e9d2-4628-a04b-6a43e119999a CLINVAR:854099 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b1a8993f-b580-461d-bfc5-aae051f23aa3 CLINVAR:854099 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e732fae8-566e-4d5b-a8f1-64917fdf7dc1 CA415087966 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen efb5c159-6683-4c92-8bdd-ee995ce3fb8c CA415087966 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0958d45c-fb92-4db0-9d68-576eaf5d32c8 CA415090808 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d403d755-1aa8-4c91-9d73-2c66c15be27a CA415090808 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20321579-22a3-46e1-b971-ea7b26715130 CA2580610964 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 87bbe178-fe4d-4b6c-b6e2-5409d75a591e CA2580610964 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6d72b60-9238-4b09-9524-da17d077f4ac CLINVAR:618516 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5255885a-c13f-4ec5-97cf-d8fd9763fe16 CLINVAR:618516 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62530a9f-e49b-4b4b-ba29-709f68b972c3 CLINVAR:338506 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b633c0e2-22b0-43a8-bb59-768a39f99d8a CLINVAR:338506 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba877005-5ef8-4a10-a8e5-b1199231d241 CLINVAR:1966 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0e9b68e8-8940-4db9-b960-f9e043eb3e5e CLINVAR:1966 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d72809eb-44fc-499d-82cd-90165b144e9b CLINVAR:968664 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e86aaceb-f5ad-4b5e-83ee-0a8a47d982ce CLINVAR:968664 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ecb4d5e-bd45-4a37-a043-d4526f14cfb1 CLINVAR:419664 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 23adbed8-c4d6-4783-9e5e-f18ae785e81e CLINVAR:419664 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 220f995d-2f7f-42b7-9c96-6ddb2b7e4bec CLINVAR:418256 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53e40052-5058-4a6a-ad18-409526f8454c CLINVAR:418256 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fa7e883-ae21-403c-98d7-166d8f5c2afa CLINVAR:804024 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d1abd9f2-a47f-4f9f-8207-aa030a767840 CLINVAR:804024 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e63faad7-2182-47c7-9eab-fed1cdb93021 CLINVAR:505549 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f1a49b18-a3f7-40dd-9cde-d5d8e31a75f7 CLINVAR:505549 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6053e2c1-1b60-4a47-acfc-3dd4135fa759 CLINVAR:1979 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a918a36-6c7e-4f6e-ae06-b62b8b544459 CLINVAR:1979 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a10f4c7e-19dc-44a9-b6bb-a9c57c34d9dd CLINVAR:68264 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 05995fa2-a7d5-454d-a19d-cb7d2119ae65 CLINVAR:68264 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63b24935-3969-4bd8-9833-6f08f66dd187 CLINVAR:1963 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91ae3dc8-b695-4793-bd51-0db7b62557bd CLINVAR:1963 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 551339cb-3494-4421-84e6-90b7951d741a CLINVAR:468281 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 446c18ce-2c83-40e6-8cb0-5796ebe89e0c CLINVAR:468281 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33857b7b-fb0a-4f51-8423-d530c182396a CLINVAR:1075328 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aec1d23c-d352-40e8-82ae-77dbc29e99eb CLINVAR:1075328 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7611de50-5460-4e69-942b-d5e8cc4c3e0b CLINVAR:1957 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4f49c000-43c3-4356-8260-fcf363e6423c CLINVAR:1957 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6114fad6-f813-4924-b778-9fb58c3e026c CLINVAR:550821 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3959f6aa-d2f3-4428-9572-13e748c3e5d9 CLINVAR:550821 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ed3928d-6337-4b57-9178-2465362058d4 CLINVAR:1473380 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5cfda2ba-d655-45a0-8e55-df6e877322c9 CLINVAR:1473380 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed96efbd-9340-4c96-94f0-78544d4821e1 CLINVAR:1969 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d3ba71ea-391a-4652-82ff-72a319657226 CLINVAR:1969 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d88e7b6f-2fce-425d-bccb-c18e424865f5 CLINVAR:254216 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3aca1074-c72b-4b3b-a875-c779e01660c7 CLINVAR:254216 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46b2882d-1394-4a9f-8093-6ab947e94866 CLINVAR:986350 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bcc76059-c5f7-4f5d-ae0e-379c34cb5c6f CLINVAR:986350 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c6dfbc0-7806-4a1b-b41a-97a5bf3e6201 CLINVAR:1713265 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 48f13d65-6f22-48c9-8e15-6355133cf7db CLINVAR:1713265 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 462064e1-942d-4b31-93ef-de3b1a9acd0c CLINVAR:1069380 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 76b62a31-6c15-4d00-9be9-e3efe381f880 CLINVAR:1069380 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a71925ef-edeb-4d63-a787-7b0e66f3b009 CLINVAR:254217 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 309215ef-6e5a-48d4-b32a-f83075314b74 CLINVAR:254217 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f502e22-2b9e-4f8e-871e-305e23efd593 CLINVAR:1679474 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 25b9c105-6b5b-446a-81f5-28085b5ff2b7 CLINVAR:1679474 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba577ba8-0e2c-447e-b475-fa0ed3b85dd6 CLINVAR:1696158 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a0d06f8a-7934-4a15-8105-0a2e7f19ea5c CLINVAR:1696158 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee4549db-6aea-4c55-be63-8456fb814c00 CLINVAR:804345 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 665d046d-5f7d-4db0-99b1-ba45206be405 CLINVAR:804345 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d31835a7-64ce-42ab-9a5a-90333fa838e3 CLINVAR:353259 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f740045c-62ad-4525-b542-cae8d7072c97 CLINVAR:353259 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a24f7017-2e30-4138-a7f8-8b72bc49a78e CLINVAR:36392 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8f8b6362-25b3-4de6-a868-89138373179c CLINVAR:36392 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f81259fb-632e-47b3-b3a8-447cfab85157 CLINVAR:224841 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fdd23898-213a-4bfb-9578-2473c2ef5a16 CLINVAR:224841 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e0290a8-5a37-44fd-b99c-1ae868ea88f0 CLINVAR:578174 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0c2ba787-9ea0-498f-b312-96da3b0a5a6c CLINVAR:578174 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2354b820-01c1-4863-91da-7f3dc3e9c8b3 CLINVAR:2187538 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 80bf49b1-8966-4df9-a14a-216933567a07 CLINVAR:2187538 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dd795f2-112c-44f7-b5b8-5841fcfeb3a1 CLINVAR:14841 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d70e73aa-cd00-4546-9873-35134b2b4b3f CLINVAR:14841 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92650b7e-823c-4105-bfa4-a39fa150d376 CLINVAR:1034220 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e820ffd-8546-43ea-9564-236f8866c2c0 CLINVAR:1034220 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f1f8e71-ab3a-4bae-9e3e-321ddf14f5cc CLINVAR:304491 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1df056f5-82b6-4617-834f-43c7540c525e CLINVAR:304491 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee872610-4279-405f-bc96-32be453b6da6 CLINVAR:285045 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 46f0236b-3b54-4f76-9182-2a4f21ae0133 CLINVAR:285045 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8580a653-27c6-4a33-91b2-147e2d0e4a62 CLINVAR:372487 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7599a62d-b9a3-4d85-a499-4abe9c1bcd1a CLINVAR:372487 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5fb3a1a-30ad-48d7-8914-908112a5b724 CLINVAR:626157 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3829cbaa-e70f-4da7-beeb-b945f0329a42 CLINVAR:626157 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5a51049-e885-4e7f-ad6d-20a6596d1f56 CLINVAR:235411 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b16f42e9-8345-43cc-8414-d445dd991539 CLINVAR:235411 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de122c25-c358-4cce-ab8c-d43a44509aeb CLINVAR:68681 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fa7758c8-5425-4b69-b3a4-748b82f4cca8 CLINVAR:68681 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dd49d65-b8a3-41f8-bc0e-9d0d1529c8e1 CLINVAR:496630 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 656f7312-fe08-49fe-af33-2be43141c590 CLINVAR:496630 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6997940c-4df4-4cb0-a930-a66c64b41d66 CLINVAR:13133 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen efbfb2bc-4242-4f25-9a16-51f76e6c9960 CLINVAR:13133 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0103120e-4abc-4a79-9053-88dc5c3f610c CLINVAR:1075544 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dbb47772-de1d-4b6d-ad44-6b30c6af275f CLINVAR:1075544 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b68fe74-1064-4307-b11b-92dc5dd08e16 CLINVAR:13130 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 00f65b69-b0aa-41f9-8c5a-7456af60c095 CLINVAR:13130 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 448536e5-1e86-41ba-ae78-c5c12def16b5 CLINVAR:500475 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 19d900f4-7ca9-43b7-9d4c-feb20c96c619 CLINVAR:500475 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b390de8-2129-4405-82ba-6a0885057ed7 CLINVAR:36719 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bef6c038-082b-4602-839c-d30215614c18 CLINVAR:36719 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c6a00d9-a958-429b-90f2-14d9fc2e0b79 CLINVAR:1412375 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 601e4563-669c-4cb5-a95c-9535e38680db CLINVAR:1412375 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fb8eb61-9a2d-49ab-9560-dd7a99c084d5 CLINVAR:13138 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen afcee5e6-45b1-46d4-88f7-a1b3d34ffa77 CLINVAR:13138 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2a696e9-8b9a-4b93-8ddb-d4abd618ffd6 CLINVAR:427020 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4c30de63-6d89-4821-88cb-656fc462971a CLINVAR:427020 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6ba6cc2-57e7-4180-a3fc-0636997f4d6a CLINVAR:624608 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba8ce7e0-cee4-429c-9b87-d51d0d2e1860 CLINVAR:624608 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc8722b9-15e8-4cc0-b944-8377d1f121ef CLINVAR:36415 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e890bca4-e1bd-4116-8705-dd3692a89b79 CLINVAR:36415 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e0c434f-d78f-43f8-a9ca-fe301ebe360b CLINVAR:891294 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5783c2fc-4300-48da-ad11-d3d13f1b19a7 CLINVAR:891294 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 423a6644-994a-4c14-9dff-8806a3c3eb3c CLINVAR:81020 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7a7db45e-af05-4841-9c18-654ea2278b34 CLINVAR:81020 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a6d4c0a-265b-42ad-8669-247042a6c183 CLINVAR:36423 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6f54a545-5f12-45ef-8cda-487ad5270f19 CLINVAR:36423 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90fee253-f9ed-4deb-b614-bc20c1ce9575 CLINVAR:644288 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0652bcbe-600a-438e-b9db-32f7f2808459 CLINVAR:644288 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fe2b74d-c0c6-45bc-a8ca-ace216bb5f97 CLINVAR:1999662 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4345f7c4-5391-41b9-9402-731be80d6df2 CLINVAR:1999662 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fd0198e-7146-4496-bba0-89715e0eefd6 CLINVAR:2048620 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b710188f-2c73-40bf-9b77-21e4f2abd762 CLINVAR:2048620 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27bd82ba-4de4-4709-a3bb-6859ced7d421 CLINVAR:2054022 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8d1b8689-2af3-4d32-a17e-33069de44e27 CLINVAR:2054022 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06aaf51e-5c0e-472f-833a-b75ced090914 CLINVAR:962267 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 995e4232-0ee2-4e1a-80ef-b6255e1637f2 CLINVAR:962267 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e0c91c4-420c-4bf3-a0fd-5fefe2d7aaba CLINVAR:372386 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7bd3a6f9-c736-4db6-a127-3c792151b42c CLINVAR:372386 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e695b5bb-9df5-46e4-b9d9-04d282b2e458 CLINVAR:280035 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0c1cefc8-6e47-4244-a66e-4437e001efe9 CLINVAR:280035 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2e0a31d-482e-4da1-80f6-1909b64bbb0a CLINVAR:225195 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 58858c9a-a9d9-49e1-8d05-13826fb29fcf CLINVAR:225195 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0191329-9345-4aaa-bb48-2cacac848bad CLINVAR:10027 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b55641b9-8f89-4c97-9f89-0a7d735b3b80 CLINVAR:10027 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b28eda6-d21a-4be7-b3c8-a4b33e50151c CLINVAR:837417 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41d973c7-78a0-48a6-9936-290c80fb7c80 CLINVAR:837417 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e55bdb4-0f85-4836-a8a1-f1e809a5a47b CLINVAR:532191 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c12b253-898a-47e6-b2cd-e6e299bb4b5e CLINVAR:532191 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da0bab2d-b076-4cbf-8a5d-9242630a8da8 CLINVAR:1559662 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ef01bbd5-ad15-4472-b29e-bcd1fd2149a6 CLINVAR:1559662 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fd001f7-2d4c-4da2-959e-ca8fcc5fc310 CLINVAR:1368945 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b2eb3a07-5349-4828-b647-bbcffe889bc1 CLINVAR:1368945 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7058f6a9-7adb-42de-80e0-6497d606cdfa CLINVAR:633274 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b0478b6c-5c5a-449a-a0d7-8034eced1d45 CLINVAR:633274 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f14634cb-7864-40ab-8230-c66b1f2cbf06 CLINVAR:690455 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fcffc751-4bb0-4c16-ab2a-4eb87575deae CLINVAR:690455 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17edee6d-201b-4223-8698-7c54a23ba098 CLINVAR:932987 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0229c9dc-f3a0-4f1c-9d73-e6696876c533 CLINVAR:932987 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31859ac4-8f45-4c38-b23d-6e4d8a9ae139 CLINVAR:825366 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d28c4760-d6ac-4b96-8c0c-3b18fdf48272 CLINVAR:825366 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4154bb7-f01a-48b9-a26b-ada945997f9f CLINVAR:477225 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b155a96e-82b7-4d85-b7fe-7a86c4d3f5c3 CLINVAR:477225 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4d31f53-8fb3-4e0e-84f3-7a8c2959c841 CLINVAR:825165 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a906aba0-43f3-424e-b3f4-9439c6ddad4b CLINVAR:825165 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96633a6c-8361-4c20-b94f-71d1e7012cff CLINVAR:577152 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0dd032a-e245-48c6-90c4-0500b850ba61 CLINVAR:577152 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 511d6840-53c6-4373-a60d-18461855a5d6 CLINVAR:939082 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aed7f162-8b12-4612-896a-cb2a1964bbc5 CLINVAR:939082 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dbaaa1d-05d9-49a5-b6a7-da78fe6baaf3 CLINVAR:933119 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 263412cf-3c81-42c3-9e71-908c069ee0bb CLINVAR:933119 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4138dfa7-cee4-45ab-8af7-be24997542cb CLINVAR:30566 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a58703f6-bc26-4faf-bf33-7c1c0a7e06e4 CLINVAR:30566 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e79efac4-6ba2-4893-8cf6-6f8e96b6122a CLINVAR:36212 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3019131a-29a8-43e3-bef5-a83a0e9978ff CLINVAR:36212 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9eef0c31-ffe5-4a2b-9dce-d5003d5260e7 CA367402683 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ae5f308d-6ce4-4c8c-8f4e-9cc85c1da9a8 CA367402683 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42cac988-4053-4317-a08d-42816dc18c6c CLINVAR:447411 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6ef823b4-e8fc-4876-8996-f2ef8852cc32 CLINVAR:447411 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72a31b31-bbdf-477c-b96b-a846512aea7d CLINVAR:804852 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e80a135c-bbbf-487c-ac7b-a1968766e97f CLINVAR:804852 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f8a2e8c-d7c3-4cb4-9449-80af50541108 CA367401193 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ea1c745-2e5d-4228-abe6-8c22cb7ec41c CA367401193 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a330629-0945-4384-ba45-e069a127e0b4 CLINVAR:1807279 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 36629edb-03bf-4853-8424-68965fb013a2 CLINVAR:1807279 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 507b82ca-b9ed-4754-833c-8a1e1bffee9b CLINVAR:995373 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bf1e86f3-01ff-4dce-848f-928ddcce45ec CLINVAR:995373 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6979649e-6cea-4cd2-8b94-e123cba9189c CA367397094 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5fc215bc-4cac-4262-a4dd-367b0566dabb CA367397094 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ef0839d-ae14-4afa-8809-92632a8727c5 CLINVAR:447381 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3898cab4-c083-43e0-9311-dcf48db6b233 CLINVAR:447381 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a92de6fd-58fb-4265-b8bd-e9f725666836 CLINVAR:36174 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bc3f3271-76d8-41e0-be0f-20a4e59b7605 CLINVAR:36174 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c10ebdf4-f617-4bfa-9fbf-4e6bb9aaf731 CLINVAR:418228 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c06e62c7-163d-4f7a-a770-4303369f1660 CLINVAR:418228 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1704573-b13a-443a-adf3-557635f4ad96 CA2580612100 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d86630f9-7b7e-486b-929b-92d0d54da584 CA2580612100 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e73317d-59c0-4aa4-bb65-14f839c57577 CA367401296 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 73fd631f-d073-4b52-8269-4059be58f45d CA367401296 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04e12196-cb83-4baf-86c0-cb5efe64e2c9 CA367401320 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cc0b65ed-9f38-4564-9049-b031368d55eb CA367401320 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b3d78c2-49bf-4ace-8486-9e7e43cd6665 CA367401688 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f12da46c-ac2b-45e2-9fa7-5868a4d1158c CA367401688 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 850ebcc5-1451-4670-bca2-a21a49eec6c7 CA9870415 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0fadd3ae-044e-44b3-95ea-a3d89f738285 CA9870415 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57122f99-eb3c-44be-9dee-c7bb9e347840 CA409108291 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4cc93afb-17d4-4ae5-8233-d2a1512fcac2 CA409108291 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2ae8e36-28ff-452b-985e-2aec3cd764bd CLINVAR:36346 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen df45533c-47c9-402f-b1ac-d055bbf98265 CLINVAR:36346 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2afa37e8-5d13-49b9-8f79-791696778781 CLINVAR:1299754 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 697c5dee-7561-4ec0-a369-9c76fcf44849 CLINVAR:1299754 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28ef9d76-2bdb-45aa-9b3a-2a0a7fdd7368 CLINVAR:447521 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 445f35c2-64ab-4984-8e3e-8704e7361bd7 CLINVAR:447521 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04b01dee-5af5-4e8a-b401-0623b43d03d1 CA386964742 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 52f0dcbb-08f2-4828-9563-235d238986a7 CA386964742 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc670b68-b12f-4260-99e2-88992ed6bf2e CA386964799 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e48ab521-045d-4f84-ba00-c1a6d6950b86 CA386964799 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b70882d-8b39-4525-b037-f620158583b3 CA2580611076 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c4aa4989-2d5f-4294-9678-bb09eaece854 CA2580611076 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d51a3682-89c1-4efd-bad4-2bd481fa8094 CA386965032 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 121c3aad-2ab1-4b9f-9988-320a802e9cfa CA386965032 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ee3b4dd-5baf-4b31-82be-277f070c0728 CA2580611120 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 15032504-3319-4d6c-97bf-ed97d35dce65 CA2580611120 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen defcf4ef-f53e-4f23-b3f4-a0c730abfc99 CA2580611121 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fc54443a-2970-4492-b08e-38e549c2ba06 CA2580611121 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79c02594-ee0c-48c7-92db-927a51bcaa76 CA386965309 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 58aaa235-ac38-4dcf-8700-4fae029897a6 CA386965309 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd1be763-e2f1-4b76-9dc1-44c1daadd785 CA386960641 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 103f3d5f-3905-41a1-be70-3a7c89450d08 CA386960641 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e51b2cf3-3856-4003-8466-34390f18de20 CA386960737 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a861147a-2b42-4bd7-9f62-d76eb4da86da CA386960737 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d01e24b9-bb1d-4e37-86b0-53f2448055fa CLINVAR:897015 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c8c1d50b-e3b6-4a98-9d27-9528c123a91c CLINVAR:897015 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51eac7a8-8433-4620-a0aa-2161578277be CLINVAR:2088001 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 754476a2-39cc-44e4-bd87-dee6ced15096 CLINVAR:2088001 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 357249b6-ef13-4457-99b8-baf29005f0ae CLINVAR:558340 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 65f2224f-a579-4d49-811a-940154cdc8c4 CLINVAR:558340 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1275c5b3-0d1f-47cb-a774-c9a5dcfa50c2 CLINVAR:1505857 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ec3b2541-60c1-4ecd-a04e-7952e5423782 CLINVAR:1505857 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14d8e91c-19e0-4f28-a7e6-78f22a6622b7 CLINVAR:402341 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 20cbada6-fcb5-4e16-aa2d-949d889d1951 CLINVAR:402341 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43a739f2-1138-4735-ab96-49462917b5fe CLINVAR:1722324 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 92b7934c-82c6-4e92-8c7e-16c9937cb3ff CLINVAR:1722324 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d322ab00-75f8-487f-856b-585600c95e7b CLINVAR:2118854 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1bd3473c-3af2-4383-9c2b-e2b2b40afb96 CLINVAR:2118854 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4c5396c-b4cb-45cd-acc0-577835dbcfd2 CLINVAR:2288152 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 84b24b44-971d-4e24-9e28-3e64d2fc57a8 CLINVAR:2288152 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61e34eb7-aa8d-47a5-91b6-8fd9baa6a1d7 CLINVAR:2163795 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fe081d07-bbd3-48a5-8f37-682efe03feb9 CLINVAR:2163795 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35865234-cf51-47e8-8a89-32d04f73e433 CLINVAR:969751 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 85161643-949c-44e1-9297-c0b5ba8b3b5e CLINVAR:969751 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5269802b-e9e2-4529-8e11-44ea98abede1 CLINVAR:4665 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0ba06ca3-45c0-45dc-8b32-7ff449302d21 CLINVAR:4665 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0126b4fc-6a0d-4582-ad20-483c34acd047 CLINVAR:802564 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 60dd5fe9-268f-459e-a1c8-7fb045284e19 CLINVAR:802564 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8c57513-b957-4298-86f9-4cf4267295a7 CLINVAR:1364174 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a7508b7f-9378-4da7-bed2-a725ddc1ba6d CLINVAR:1364174 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0493246d-90b1-4190-abad-1199a7e8463c CLINVAR:4674 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e6dd9329-2a2f-4b60-ad69-be7f1282a931 CLINVAR:4674 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d79d3f8f-8b67-429b-92b2-425504329a1d CLINVAR:2136852 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7c4693f5-2ab1-4998-8c3b-706e3aa044f4 CLINVAR:2136852 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9b7741f-28b3-47f9-b385-acdb7e176384 CLINVAR:1438811 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e6dee528-6fad-4c76-9b80-9f58843ad22c CLINVAR:1438811 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e33e031-45a5-488e-ac9c-0b5e041c8c7f CLINVAR:2136853 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 690f62ea-b2fb-432f-9dbd-50290e3af2c3 CLINVAR:2136853 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88f5e70e-d457-40d0-ab99-6711c711037b CLINVAR:2107279 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 079d3715-c7d3-45b7-aaaa-d858db6d8e2a CLINVAR:2107279 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2bed432-3c53-424c-94a4-8ce8b121fe08 CLINVAR:841042 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c8f68d9-962e-4cba-b396-2a5fd90c2bef CLINVAR:841042 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6f66e2b-8e9a-4cb0-95ae-8346a85b3bbf CLINVAR:4677 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 876bc465-7be7-472a-9e7b-ac10806b45e6 CLINVAR:4677 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff7e1d16-71fb-4261-93be-fa8b9a0aed22 CLINVAR:381576 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 55ea0f28-3601-4d5d-90d8-2123588303b2 CLINVAR:381576 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b597a67f-b230-4e2a-88f8-ec672fca7a34 CLINVAR:496633 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 97a9b42e-73d4-4beb-921e-91b41fc5f0d7 CLINVAR:496633 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9ed9129-a3e1-4ee3-85e1-bd204812382c CLINVAR:650904 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c6f12528-7869-48e4-a4ec-ade72c3d2041 CLINVAR:650904 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b13770b0-5d09-47c4-a358-181e5bc4e7aa CLINVAR:496629 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 79e3e094-e19a-4758-a821-c2962ce2f157 CLINVAR:496629 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b492b8bf-0a92-4fc1-95d1-b76a21e92ced CLINVAR:549915 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7837ebe5-2386-4eb4-9673-bdc6d7db989f CLINVAR:549915 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 378d6449-b155-4dfc-96ea-ae35304ff5a6 CLINVAR:304492 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 656013fb-9217-40fb-b70f-f4b927cdb5bf CLINVAR:304492 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b00d7ec-0cdf-4708-a74d-579b203ae432 CLINVAR:555182 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 60150373-3249-4801-9d80-3ff81fdb30ec CLINVAR:555182 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e29f9fb-47e2-445f-84a0-3283ecb42737 CLINVAR:36393 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c06f2cb-230a-4b4a-9710-8f9e5c61f51f CLINVAR:36393 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a6ead5a-8bf5-4c63-8a12-97f9f109b96a CLINVAR:14843 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9eef905d-f63b-465b-a869-a10e81d2cbf6 CLINVAR:14843 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4c3d8d6-ef70-4fd2-bcff-5828fe172690 CLINVAR:1968 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9f8f4cd5-9edb-438e-8076-7b80bc173029 CLINVAR:1968 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76c2e494-2d51-4d02-8b8f-b980f224eb10 CLINVAR:529744 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 96ce01d9-25e2-4488-af20-b81b6d497b1c CLINVAR:529744 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e65ed6f2-5c5f-4aea-b5ef-16cd9c4f3dad CA343774510 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7c013bc1-3447-435f-afff-3007bc002051 CA343774510 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 273b76e4-faa2-4d2c-a050-5cc84c2045a9 CLINVAR:660852 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2392d495-0305-46ec-821e-a2c49a46019b CLINVAR:660852 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1126097a-fcae-4ae2-ba88-41104122dba5 CLINVAR:694627 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9631b085-acb1-40eb-aa10-ff18e1f79fdd CLINVAR:694627 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd4120ea-1f77-4a09-9e5b-de53e035a492 CA2573051124 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7eeaec87-ee03-4cca-9265-783f219103bf CA2573051124 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 691e8b46-042a-42da-b508-218b65178171 CLINVAR:18017 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 846b9c1a-7152-4dee-b267-45725196950b CLINVAR:18017 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f609e1cf-596a-4707-a50e-c7c47cd3bbc7 CA421942771 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b5e30c6b-32fb-46c9-845e-3cd8c164ddac CA421942771 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8541af54-57c0-4362-8007-16bd2be90f36 CA2580612102 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bc2ed5cd-5684-4418-8e8b-2e1c2ea88963 CA2580612102 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca2bf5b9-5302-4a6e-b7c4-a24cedd29fde CLINVAR:585914 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 00239c78-8efc-47bf-b269-0ea998a02493 CLINVAR:585914 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7588ebed-2e44-46f5-b40e-81956c7bac46 CLINVAR:36172 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6680b254-1093-4c30-8fd0-8df441d60551 CLINVAR:36172 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a3d791d-b3a3-40d6-ac54-b6ba26937e78 CA2579830356 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 45e4a0a7-3b89-427c-8c11-8e4a5d7f1c8c CA386958785 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68d1fe1f-fa83-43e4-8c73-27bc763d3777 CA386958785 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f432f16-4d16-4bc6-b7f7-3d08614d86c5 CLINVAR:1384058 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5f7541c7-0714-4e7d-8af1-faac740f0970 CLINVAR:1384058 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9849f610-4fe2-47b2-b112-ae75fabd9c36 CLINVAR:1298987 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 13cec0aa-75ef-43bb-bbb5-2cb8f3662e7e CLINVAR:1298987 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72f48627-ab01-487c-8a70-611c8912af95 CLINVAR:642787 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 46b5fe8f-fde7-4bdd-b05f-e6a2b0900f90 CLINVAR:642787 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ba04275-a610-432d-9ee8-f5c6d52baefd CLINVAR:1323115 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6685539c-87fa-495e-bbb3-f6b79ffe39ef CLINVAR:1323115 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b5ba087-a18b-46be-b873-d985ebccd5d3 CLINVAR:1028611 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2375f2ec-55e2-4944-a428-6e51d595ecd5 CLINVAR:1028611 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50fa3ffc-8adf-4786-b8d1-4754c445b4ad CLINVAR:596673 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1dca04f6-c5da-49a4-967e-316613fadf72 CLINVAR:596673 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b456c35f-d3bf-4eaa-b2f6-b82fac2753e2 CLINVAR:866507 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4726df04-5e42-4bea-8505-04f95407a60b CLINVAR:866507 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaf4039c-2a05-413a-a94f-4d5d7f1ec271 CLINVAR:29873 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a742f33f-6f77-4a5e-9f0a-edaaa1129bef CLINVAR:29873 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e668212d-9206-4dbb-9864-be50d8848617 CLINVAR:98846 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2406ad69-1f69-43d8-8411-02bf6804c7d9 CLINVAR:98846 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06130de3-a4f0-4995-b51b-f0265b00c829 CLINVAR:98848 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2ab0d291-ea10-460b-b15e-93b15fbb863d CLINVAR:98848 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53fd8bba-5ef7-4ffe-bc78-6e1d3a63f01e CLINVAR:1369885 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2f670060-4138-439e-a9ad-9b5b0a904f78 CLINVAR:1369885 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 370f79ea-d41c-4c7c-9d10-539691aa4141 CLINVAR:379561 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 05da269f-16a1-4176-92b8-c5bf4ac3c947 CLINVAR:379561 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 519a8b08-4e40-4d0e-867e-75e104db8b37 CLINVAR:98835 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3938b5f6-1a9b-414c-bff9-4c8072590254 CLINVAR:98835 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8e045d1-f641-41b1-8e64-b9ac89bda9d2 CLINVAR:973955 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7aad656f-512d-4293-a3af-dd145d0a799f CLINVAR:973955 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7234cc7-1638-4bb0-9214-f92b11ee455a CLINVAR:964193 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 509605a5-1a2c-46ce-9fcc-87cd7d6786f8 CLINVAR:964193 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 635870a8-ecc2-4245-a16f-482416c304a8 CLINVAR:467827 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1703ce14-d8fe-4523-8608-60f8e2f62072 CLINVAR:467827 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0098b37f-41ee-4a00-8d48-3cea163d8f7d CLINVAR:1213912 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen da516666-5f56-487e-8fad-2378bc394eaf CLINVAR:1213912 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 284b22a5-3c78-4067-a758-a01d0faa380d CLINVAR:10019 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2384a430-f19e-423c-b568-e5dac84f0a14 CLINVAR:10019 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19215c52-19e0-4e82-b334-571b5f5332ff CLINVAR:941327 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 86b0402b-8b03-4d00-b41d-ca32e5e23011 CLINVAR:941327 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66e04cbd-9bd6-475b-a265-4c8215090dd1 CLINVAR:1339483 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 335a7b50-e49f-4ae7-8699-1267b0cdcf1c CLINVAR:1339483 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd47d84a-78c7-47ff-a3fb-441ae2cb8517 CLINVAR:429640 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f7c48b3e-7ecf-4b08-b2cd-072bd4eb0ca9 CLINVAR:429640 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ceed180-78f5-49e9-bcc7-2a4ffad8a9d1 CLINVAR:36169 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 49e2bb63-b5ed-4a9e-98f7-51d456ca27b5 CLINVAR:36169 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bca7edb-6562-480d-bf3c-72d209c57015 CA367400637 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 06328e25-ca56-4c4d-8965-57a1bfccf7b8 CA367400637 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11d05792-2c4c-40ac-9c73-ded45f6283fc CA2529312623 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3fcf7d6c-3329-49c5-adcf-7a54890cb152 CA2529312623 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33e79bc6-4531-4a1a-8b63-70609fe9171c CA367401125 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f0e004dd-49fc-4800-9f34-9d3fce3ed71e CA367401125 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ccf6338-a7df-4d40-82cc-66fcab5b87e7 CA367403546 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 547b3116-3af3-474f-b20f-6db6672d7351 CA367403546 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fa8038a-6911-4cca-9fdf-c415a1b35907 CLINVAR:1335461 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3cc99de1-0fd1-4a4e-bc4e-deff230f316a CLINVAR:1335461 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 733a1f50-4265-40a0-9806-1de19a25dd2e CLINVAR:456438 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0e4bb20c-f97b-4aff-9eda-f5253ed205ba CLINVAR:456438 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c02e1f79-9d1f-4cc8-ba02-34cf7e985f14 CLINVAR:526525 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6855c681-88bc-46d1-9ece-6585abcbef79 CLINVAR:526525 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b76ab390-05f2-4d68-be8a-6255365215d7 CLINVAR:439746 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ba6862a-ce3c-4c0c-b570-0556908886ed CLINVAR:439746 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4b79907-5177-4efe-b784-cc51d98c290a CLINVAR:282242 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5d9e4919-ba9b-4036-9436-b2634eab91e9 CLINVAR:282242 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b3d70bc-96f4-45b6-85d1-69e7aadd93cb CLINVAR:284232 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2053d3e-8330-4b34-b092-d100c48a35e0 CLINVAR:284232 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09d59a9c-b58f-4daa-b22e-add0b3c09fd4 CLINVAR:465141 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c6b3b52e-2aaf-4f71-99da-42bea70dbf29 CLINVAR:465141 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b75a972b-67c5-4939-b1d6-c0991776b987 CLINVAR:533700 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9edfb45d-f910-4c0f-babf-ce84f6ae54aa CLINVAR:533700 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 003887b6-4472-4145-8797-3bf935c67c24 CA2579916788 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d91b0b5f-6e7d-4e5d-b801-42efcf7f41a2 CA2579916788 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56a0cbbe-17fd-40a1-b8ec-5a6cb8ddf67e CA645287926 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cf7bb00b-614e-4846-8465-2ed715558bf4 CA645287926 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed3ab4aa-570c-4f75-80c4-ca6ffaa7e751 CLINVAR:2031214 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bd53a801-2907-4d5e-9104-afdec55e25c9 CLINVAR:2031214 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4beb0a52-73e0-4ddc-9e21-ea7a3c00dd1e CA415084839 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 46bfdec4-e374-4c67-b404-5a1622721dda CA415084839 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b34e08a6-2058-47d5-a2a1-513485298dcb CA415078334 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5664b5ab-a7ff-479c-b64c-c4d4026b43cb CA415078334 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9b94b58-2544-4461-b00d-37e426c56990 CLINVAR:917495 biolink:genetically_associated_with MONDO:0000456 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a91ea5fc-b907-405d-b2d1-f6f9402a7648 CLINVAR:917495 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a138568-93b4-4c7d-8b63-9d9f8f80b5d9 CLINVAR:917496 biolink:genetically_associated_with MONDO:0000456 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen edbd91be-db64-4d32-8886-aae71cf61b71 CLINVAR:917496 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e77cde8-613c-43ed-b9ae-9d2450848f96 CLINVAR:36712 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f01d260-c6ab-4498-97ac-5ed8ee64d755 CLINVAR:36712 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c11a6ff-ffab-4771-bab2-6d26388080ff CLINVAR:583401 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e3aaefc7-128e-498a-b7ad-bb188aefc866 CLINVAR:583401 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd25a440-8ef4-4e5d-a38f-b245da2f4d72 CLINVAR:231277 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 55072a9e-cf74-4f01-b923-ba6d5faacf23 CLINVAR:231277 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 769e15b4-1a8a-4616-a497-4f6b8d74d93a CLINVAR:135775 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ff8808c6-f288-4ad2-bb13-2243845a576a CLINVAR:135775 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2488536-03d7-4155-8d6b-c344e5d71e26 CLINVAR:181996 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 199ee892-6711-4d38-b00e-4fdb69029359 CLINVAR:181996 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf369cd2-7db5-427e-b274-ed0b4e18a07a CLINVAR:407515 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 687e1613-1e17-4d0b-b360-5a5c2e8d7cc0 CLINVAR:407515 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ab23187-d674-4264-9ec3-f1aaf03dace0 CLINVAR:407510 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 46c48e9e-efc5-44d3-a38f-0b5f186dd9d2 CLINVAR:407510 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81bd7a4a-11ee-4995-804b-39485f6731de CLINVAR:229794 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 367b02ce-d2ee-4b4f-8733-cb1de492cfee CLINVAR:229794 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4efc41a0-c692-440c-9203-61beb6cfdc50 CLINVAR:127459 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fbff8989-f687-47d1-b187-bf1d27174a90 CLINVAR:127459 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5eccb2db-2103-40e6-841f-ca0caa793a9a CA382533339 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f1e99e24-a06e-4d48-a374-69a2cd65521d CA382533339 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6916aaee-4f37-44ff-b53b-a0cdac5f6e1f CLINVAR:569567 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1804c6e6-25e8-4273-adc4-f0493e181490 CLINVAR:569567 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb5e6379-2bb0-48d4-8b66-620927ac8f57 CLINVAR:1713223 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b497735b-08d6-47fb-a185-d427aa533767 CLINVAR:1713223 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a527f973-be34-49dc-95d4-4226286c39c7 CA382556814 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 637eb130-5b02-4e41-8b86-5af715f2a584 CA382556814 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3cbbc7a-3a69-4158-8618-90de4b0e3d6b CLINVAR:220121 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 950c97de-8d33-4eaf-90f3-2635416dafed CLINVAR:220121 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df8963fe-e2cb-45c5-a153-94c86d6e0493 CLINVAR:265634 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7dadd8e4-c6df-4aa2-b05a-cad717c0b3a2 CLINVAR:265634 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc22e2c1-8c70-48d8-b1e0-61ea5d5ce1a0 CLINVAR:127405 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 72dbe982-4156-4011-b4a3-00f586149eae CLINVAR:127405 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c74de2b9-0809-44cb-90ed-c6e8ea39743f CLINVAR:141887 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen be8f660c-13cf-434b-a1dc-d06ebb710967 CLINVAR:141887 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 092bc6c0-e351-4d43-bbd5-3d4a577b16e0 CLINVAR:141474 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 45ae0e22-32a8-4a06-9a62-dfa79b669d2a CLINVAR:141474 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8210b97d-a66d-4300-bf7a-e5ee63c2969d CLINVAR:141742 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 176b64d4-831d-4b6c-a233-2d7061469bcf CLINVAR:141742 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a596632f-1923-4b57-bcc6-f55edef2e508 CLINVAR:216021 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c0d87e14-32fb-47d4-949e-a84a2fb48ecf CLINVAR:216021 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49c6bdfc-1180-4f29-bf1d-33360f401fba CLINVAR:556315 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f83b4c35-82b6-4d5d-855e-97d46f4a5663 CLINVAR:556315 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3196ae14-0362-41f4-97fb-10ea58b9ce08 CLINVAR:127463 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3bc4e070-d37a-485c-92b0-c1ef7250e058 CLINVAR:127463 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8613a03-eb08-4834-b937-affe931567a3 CLINVAR:989764 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2d96e884-c0f0-43fd-8c24-88bd6a961341 CLINVAR:989764 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df30353f-6e59-44a4-a3d0-2413c734d548 CLINVAR:1515797 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e0742938-7895-469b-b0b8-0a6c9239f1b8 CLINVAR:1515797 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfa67853-345c-4353-ab84-01f2a0002f39 CLINVAR:1057857 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9bdc487e-99fa-4bb2-8a26-9550af8e7284 CLINVAR:1057857 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b7f223c-f183-44f9-93d3-67b9499fd497 CLINVAR:522770 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9da99eb0-30fa-48ba-bdac-3cb75e9ef87b CLINVAR:522770 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11f7177f-2c0d-4e25-af2e-bcb1a602e305 CLINVAR:1015913 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 048132fc-7880-417a-9ae7-258b3048b655 CLINVAR:1015913 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc72342b-0a52-4661-b790-31c06d12cd0f CLINVAR:847561 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b5bab048-47fa-4146-bc87-a75d13bde224 CLINVAR:847561 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceb5ec37-ea3a-43ca-ae49-eab076ec9f1d CLINVAR:2440718 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5d6fd94d-dd23-407d-ac33-ab404dd1a87f CLINVAR:2440718 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4517398-d3d9-423f-b01f-cc67983904d7 CLINVAR:877154 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff795fd8-5f2a-467b-ad40-02cf823c8196 CLINVAR:877154 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82542357-3336-4bf5-a85e-3a3cb2153954 CLINVAR:1438768 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 045754ad-f0d9-4059-bda3-691cc4ab1b66 CLINVAR:1438768 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39529c6a-97b5-4968-ae03-b8e95d3ba988 CLINVAR:968725 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7b4469b3-9ae4-4129-aa66-f96221b4f1d5 CLINVAR:968725 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 597824e7-8c78-4939-a95e-5f3906e99b44 CLINVAR:2199693 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 40a8293e-c260-4775-8cef-6072c0cef6bf CLINVAR:2199693 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a024e52-d44e-4fa2-8f55-82bd80320570 CLINVAR:633185 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07304913-e86a-416c-9bc7-294b5a1f5f0b CLINVAR:633185 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50a2d44f-6291-4c6f-8cee-d181059b153f CLINVAR:1515264 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fcd71735-8391-46b2-99e7-c0c95f880c7a CLINVAR:1515264 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c718d3dc-2ec7-45d7-900a-306153df9620 CLINVAR:655337 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fe321855-b1f7-4dc5-9c4a-ee1fadd7053e CLINVAR:655337 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e8b8e1b-274f-4821-99d1-fa22beccaa03 CLINVAR:1434035 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 72ffd2ee-e190-40b1-8cdf-0a3c35806052 CLINVAR:1434035 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2376245-9291-4235-a974-90feccf49701 CLINVAR:536367 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 06a0364c-9814-4d6d-bda3-f4990110e9d0 CLINVAR:536367 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20cc5547-156a-4724-b547-99c0e7d7c3dc CLINVAR:648095 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 77ac5e65-98b5-4834-aa55-97017a0572e4 CLINVAR:648095 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa450880-d0fc-475e-8d32-5936ad51540f CA1139771319 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4279034c-0e94-46a6-b50e-89fdac3c3a6d CA1139771319 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ed40a20-01c1-4565-8bfb-dca6b473bb64 CLINVAR:281715 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9496eea1-9289-4abb-968b-4b4d5279c26d CLINVAR:281715 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fad5624e-350b-4407-b1d1-21a0156ca445 CLINVAR:98889 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3033f207-dead-4bdd-8a3d-9683d2844cee CLINVAR:98889 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75ff4a6a-5193-4c66-a7f5-18d917345e6c CLINVAR:1069898 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8b34f8ea-23c2-4265-a587-116ca6083101 CLINVAR:1069898 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf5cab3b-755a-45fb-a265-927b530633b2 CLINVAR:98888 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ae744c3b-4b83-419f-8e40-02a3f1ec8c9e CLINVAR:98888 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3c67c67-c229-4b8d-814b-6ac95c4af422 CLINVAR:658837 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fdfb559f-722c-4e84-9de9-ef36e7aa0a1e CLINVAR:658837 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d083379a-b08d-4a97-a949-c9204588ea46 CLINVAR:421620 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dfd44fa8-e835-4d08-818a-6d83a59dd3c8 CLINVAR:421620 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f090fed-b819-480e-b0b8-7232bcd8fc74 CLINVAR:870342 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 82eee10b-dc60-49a1-9eca-ddb459d9a962 CLINVAR:870342 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4a326cd-e124-42b0-b3c6-9319f86a7264 CLINVAR:962032 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75361c8f-8de1-43ca-b8c7-1e2038df2bb2 CLINVAR:962032 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e8ae462-ee46-4c9c-beb1-99da1478467e CLINVAR:298021 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0bca42be-ff3e-4421-a9a7-bb4354c1be48 CLINVAR:298021 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f97714c-f5d3-4080-b99a-a431cbe93936 CLINVAR:876133 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e74d26dd-fa60-481c-9aa6-6706f92aea7c CLINVAR:876133 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2982e0ea-7adf-4a05-8551-38b7ac905b65 CLINVAR:1026379 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f9a63cf-64e9-4616-a675-be0748188b71 CLINVAR:1026379 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9532fc0f-7075-4559-bada-fb5b30ac2c11 CLINVAR:874234 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b470f648-abd5-4cbc-8fbd-090a6456a554 CLINVAR:874234 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 372be43e-0b3a-45cb-a463-de3e1e3a371e CLINVAR:627224 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 408e637f-b94b-441a-967e-c7bb6ca173d8 CLINVAR:627224 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d204583-fddd-4315-a579-1cc9f81f6f84 CLINVAR:1170692 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7dfb85fb-c6df-448e-b5b4-2c715bdb34df CLINVAR:1170692 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3670d88d-5132-46eb-98c3-108d9b20ff89 CLINVAR:529741 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen becec675-d6b5-4181-8c90-1d4e9ffd9150 CLINVAR:529741 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92f287ea-ca33-4b1c-ba9c-8bc1efe24e4f CLINVAR:18004 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d2ed76f7-310b-4add-afd7-70f70e9e8f68 CLINVAR:18004 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4872f0a6-dffc-4484-afa1-3999a099e2cb CA343772379 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2c4cf77a-a6f9-4ecb-b89f-03ea0a4cea3a CA343772379 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93dc7558-e6d8-46f5-b76c-d58bba931850 CA343772388 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 698303d8-0aad-4d63-a125-b42d91f8f686 CA343772388 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75af2143-71ad-4cd4-829e-4bd30c7f20d2 CA343772391 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3138d88e-ac8e-4216-be68-296b6f46dc0b CA343772391 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7a21b29-71f1-4313-a6b4-f5ecc673d135 CLINVAR:1954374 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7fdee6c9-c551-45b1-baee-f3916165f3c5 CLINVAR:1954374 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48a5d8a3-ff96-4a17-b05e-0ce9ebde1712 CLINVAR:36232 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e4d71619-2b14-4566-ae43-0c93c227de94 CLINVAR:36232 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ced3b3e3-3b30-47f6-93b9-16809357efb8 CLINVAR:1213917 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 780cf267-505a-4886-8238-02452c563a70 CLINVAR:1213917 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f270bc6d-0a75-4317-aed1-ececab3dbda4 CLINVAR:13118 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen da167c06-99f2-4dfd-a1df-e9ab93c4b937 CLINVAR:13118 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fbc7d6e-048b-4886-afa0-9c58a29651b8 CLINVAR:98860 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 05ffe7e0-a84a-49d1-9541-0bd134a604f5 CLINVAR:98863 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 891f9617-e6a8-4306-89fe-af278c789c39 CLINVAR:98863 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dff62bfc-ed33-48c4-b1ce-4fea7305d799 CLINVAR:2110257 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 67b19212-cd1f-4500-a327-0d3626690e80 CLINVAR:2110257 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 042ffb0d-2831-4d35-8f6d-e0678045dc53 CLINVAR:372493 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c5aebbb7-83fb-4f0e-8f32-4c458f48b88a CLINVAR:372493 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 047189d4-8809-429b-8ab4-b3c88e223305 CLINVAR:98898 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 982636a8-ae76-499e-b558-6cc5494b3add CLINVAR:98898 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d9856e8-0432-49f7-b596-d7ba53825333 CLINVAR:559521 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c966e63d-c8f3-4b50-830e-9043a0767b42 CLINVAR:559521 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96f19a34-8fbe-4597-900a-22df17d82644 CLINVAR:427864 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bce0fafe-2609-45cf-bcd9-99c7d65b235e CLINVAR:427864 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c76fb66c-9ebd-4f2c-bfda-034ad27546fa CLINVAR:29870 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 68d21b62-1bb3-4904-9d6c-f4a7d08f797f CLINVAR:29870 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 058d12e0-8da2-490a-8b69-f84fb7a47675 CLINVAR:29872 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 62264994-9e19-46d2-8934-bd60dc376f58 CLINVAR:29872 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0633d000-26ea-455f-8943-e3389177ac32 CLINVAR:374497 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 60b34e19-3d1f-48d5-a021-f274236a95b2 CLINVAR:374497 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc582ab3-001c-40e2-940f-87ba72909b54 CLINVAR:744318 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c36ee661-17f2-49ef-ac85-92c2761cff23 CLINVAR:744318 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce86bdad-ca45-400f-bd3d-e0bb6d9dbab0 CLINVAR:560497 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f4ad06a7-26db-495a-a70a-005b877806dd CLINVAR:560497 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d816d429-17bd-4fe0-a42a-4c9cc1709fc7 CA500436058 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aee81776-eeed-4236-9272-cfe71b959adf CA500436058 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a24bf6f9-3c4d-4a52-a866-afc1c480435d CA500651220 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0925a92b-33db-4f67-bfc9-35e2bd55e920 CA500651220 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01a49299-eea0-42af-96f1-cc5fac634529 CA399791611 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 21c10c91-c0f9-4271-a8ac-66d59cc7a3f0 CA399791611 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcddb407-0a10-4712-8b63-61b07154d43b CLINVAR:98826 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 15d57cd6-2f3b-4241-844c-992fbfb46b05 CLINVAR:98826 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55892384-a93b-42b2-9384-36ea5f8102b1 CA399803382 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4e92bc3f-82a4-43b2-908f-e2dc24e1b03c CA399803382 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eae48544-c087-460b-9ea4-4956d8533556 CLINVAR:323557 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ff8ef7e-1523-421b-8725-596a9a6ec0c8 CLINVAR:323557 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 162c4c8e-e4b8-4ac5-940a-c93d46d4e983 CA915940777 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen daf14211-e423-4eef-a264-fbb83e5a723c CA915940777 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9de4163c-518c-45a4-9503-3d9ba8297d76 CLINVAR:1677036 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e790f5be-8005-4b49-9efa-5a3065e9156f CLINVAR:1677036 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eccc94e4-a303-41c4-b092-d6df35cf027c CA2497030194 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 33f3d47b-0123-4cc4-828b-42a534914d2d CA2497030194 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3977d9ae-b4be-41db-adbd-7b9cddc7f6b3 CA2579753976 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c8783635-1c99-4bae-a79a-f235caa7c593 CA2579753976 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceb5e460-f350-4313-b467-7c362f271ac3 CA340747756 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9166791c-14c9-4e4c-9cc9-eb4c9490d8b6 CA340747756 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14098e9d-bee7-4764-a89d-fe4869b70872 CLINVAR:801497 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 72fe21d3-ace8-420d-a33e-8250ab8c3b43 CLINVAR:801497 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d6668c3-b844-405f-9e82-367ae26f2c15 CLINVAR:1117757 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa16fcb0-c0f7-4b01-a595-d67c8e15c596 CLINVAR:1117757 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9436a659-fdbe-4504-9714-d26683791dd6 CLINVAR:1468758 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d23e76ad-9668-43e7-b100-2581b72d5c64 CLINVAR:1468758 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc448f8a-6baf-4046-a06c-2b2125a3d986 CLINVAR:875116 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc06e330-b972-46a9-a36c-d6dfdf6eab66 CLINVAR:875116 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7af29bc8-741a-4d5d-899d-183160bd2786 CLINVAR:13120 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 31448788-3687-42bf-946b-f2ce1ed37a56 CLINVAR:13120 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31e7ce0c-6c5a-483f-a048-085a43236933 CLINVAR:1438062 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2f690932-e07e-4848-8f2e-00958f2a5acd CLINVAR:1438062 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32f1772e-8167-4abd-b37b-a8d3b08ac469 CA2580612187 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4c46bffa-bc2f-4f16-9589-62c02a95ffdc CA2580612187 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 979cd49a-e7de-49aa-9c46-bc86887e9ae4 CLINVAR:98857 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8d2625a1-9c02-4025-9c23-da50ab9ed92c CLINVAR:98857 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da0f1df7-d3b4-42d8-bc54-878802118d6c CLINVAR:1030779 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 027c49a4-ad94-4649-b77f-4aa90a658f4a CLINVAR:1030779 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef27ec2f-845e-40df-8e5b-8801238a3b8c CLINVAR:1068757 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5160f106-0a93-4cba-a4e4-523f05a6c18d CLINVAR:1068757 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ecf6799-93ba-4ac8-aa4c-866202f479fb CA2586966742 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2f1e040d-7892-4083-85a7-3a14a5f342ea CA2586966742 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83e5cf5c-cef7-40a7-b32b-933ed1f3b133 CLINVAR:870343 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fe2b9f64-c524-49c4-abf7-7d4206af4db0 CLINVAR:870343 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 856cb183-891c-445d-ba24-54cc8ba3414b CLINVAR:98866 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 524e7b79-a2b7-4c5b-928b-a95d5dd865cb CLINVAR:98866 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d10a3c19-4483-4fb3-bb94-cb2591f15332 CA340745588 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 05239501-8450-4f9d-9d23-039a5b44ab35 CA340745588 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c06d8f45-e7ab-4a59-810d-da777d789581 CLINVAR:488726 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 30fed9cd-563b-403b-81b9-d2b3d2fdc16c CLINVAR:488726 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d226138c-33b3-4827-83e1-c09e08ff5d6b CLINVAR:1901178 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 88b241e9-562f-4673-9bd6-705088acc91e CLINVAR:1901178 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77ef81a9-6d6d-423e-a025-c314a7f7a39d CLINVAR:984454 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 52fab378-cc97-4e1e-bd06-d8335d5195e4 CLINVAR:984454 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed49bb5f-0f9d-4ad4-b1c0-96bf02668e45 CLINVAR:933853 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a2a20c9-7357-45c1-a7d9-2e29371688e5 CLINVAR:933853 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64971db7-138a-498f-b91c-965de63df157 CLINVAR:1459771 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7de020fd-8847-42e2-b34e-e8e145304b8e CLINVAR:1459771 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eb1772e-971d-448b-9363-15aa8afb9d29 CLINVAR:863482 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8db2ecc5-14c1-463a-8961-e534a13b8c54 CLINVAR:863482 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf1fb8b7-fc55-4fe5-82ed-4c46ce2e82b8 CLINVAR:519783 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f0fc2490-4588-454b-9781-c4d10af38f86 CLINVAR:519783 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 525feae8-38ff-42d3-8164-17826c492362 CLINVAR:632819 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1d5c0ff7-c39a-479c-ac5a-873ef571ff73 CLINVAR:632819 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5adb48e6-6c7d-475a-8d82-074a74591d03 CLINVAR:495629 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0ba1af2e-af57-4b70-9de6-fed301a0b704 CLINVAR:495629 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33b5223e-1af1-4b87-82e7-1c5539bd2892 CLINVAR:42391 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d29c59ef-13dd-4321-b55d-994b8032dab8 CLINVAR:42391 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65d7b3fe-dd81-4733-a0ab-247fdc96cf3b CLINVAR:547334 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 637e19ef-93c1-4dea-8433-1abad97e9340 CLINVAR:547334 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91f31281-67af-4a01-b467-edd0f183e3e9 CLINVAR:570737 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2ec42c08-94cb-49d5-9ec3-e6179390c552 CLINVAR:570737 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1af1143f-4b0b-472f-8c89-d6125212156f CLINVAR:638559 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 76f136c1-98b0-494e-99df-1f1c9a6be2d2 CLINVAR:638559 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74fd3e69-0fd5-4ebe-80ea-b5a124a8644d CLINVAR:263898 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 78d0c4c2-b87c-43a1-a5ef-5087062b2c59 CLINVAR:263898 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47ec4734-7433-4b1b-84f0-fe77cbd630c3 CLINVAR:200167 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d353980d-8b3c-4ecb-8f77-61fb780e2c4d CLINVAR:200167 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbce74e2-310f-404d-a539-51f1d777c5e0 CLINVAR:1746353 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c21bab4-751d-4544-ad2b-b81cb910b886 CLINVAR:1746353 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 288c3b84-2c25-40ed-9d42-70c6dc7a0dd4 CLINVAR:1679555 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fffffe2e-1d84-43a9-a72c-259a07ec74db CLINVAR:1679555 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28bd6bba-a22c-4acb-ad70-14d7ac798a5a CLINVAR:21075 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7d6cfb37-a2f2-442e-a41f-9879dd1416e9 CLINVAR:21075 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdaa9c97-28bf-4de4-b71c-9c3e3f968e3d CA367401686 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e7e92517-ab13-4ba8-bf98-43e06e933bb0 CA367401686 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ba5314c-c22b-46bc-9b0e-1983d571faba CLINVAR:1746350 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d3ae4668-098a-491a-b2fb-3e36a4c4ca9e CLINVAR:1746350 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0402ab2-f4b6-44cc-9b97-bea937eec28c CLINVAR:198050 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a106eaeb-e953-4f76-bf8a-66daaf0e9287 CLINVAR:198050 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f3cc5ba-b0c5-46f2-9626-405ba7215165 CA2580612107 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7ffc57a6-55f3-4f17-9b10-7cb9369e8016 CA2580612107 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d88e3cc3-307e-4cbe-a275-c9d861d8267a CA409105441 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7a428eb1-a8b6-47db-b296-6e926af7cbb0 CA409105441 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73aae176-067c-4746-9e80-3852fe259c15 CLINVAR:13136 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f44705af-65f3-4e80-b4be-4f0d165c41b2 CLINVAR:13136 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e461cdb2-e906-4ab1-bfe6-b705b407f5c3 CLINVAR:418449 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0dfd7525-2b38-4034-80b2-0f3a4cc0beda CLINVAR:418449 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 078812e2-13fd-4b24-9970-c65d04b0cfeb CLINVAR:1050623 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 515ad426-4db8-4f5c-af62-271f575a25f0 CLINVAR:1050623 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d9454db-53d5-4e6b-a893-61ae0e3d8b20 CLINVAR:551588 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a6fbf131-c5c2-4be7-8508-1801f3d85767 CLINVAR:551588 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a094917-047c-4fae-a24d-14d3840ae121 CLINVAR:941268 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 27d1671a-1127-4c31-95e9-1e2edf24dc7e CLINVAR:941268 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfe90abe-f9f0-41cd-a8ba-1b09f9f60708 CLINVAR:449935 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dba4a2f3-99a6-4063-bd53-4b8c37b80197 CLINVAR:449935 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5a34484-f77f-408b-a716-97f6438751e5 CLINVAR:203597 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9074b1f7-b861-47c8-b89b-e1aa8f7aff15 CLINVAR:203597 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbc008f7-87ab-4de0-9e1e-6eec1e93166e CLINVAR:617950 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71dd41ec-bb16-4495-826c-7635b0425b5d CLINVAR:617950 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e704329a-be85-4ab5-8443-6c7d7ca59725 CA367398695 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1853fed2-1164-4e93-ab94-d2e2e295079f CA367398695 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f246a59-b062-4dfc-94ba-25061a110641 CLINVAR:36182 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ff06069e-4d70-42b8-bdf3-59e9145f9ab8 CLINVAR:36182 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2015a24-fa63-4b45-82a3-c64ac8ab03da CLINVAR:36181 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4b683c2a-1d87-47ca-b46b-b92155c03cac CLINVAR:36181 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0644112b-c4e5-4bdd-ba6c-3a41a3254b5f CLINVAR:236014 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0d593f79-710b-4d4e-9ead-09993e5b5957 CLINVAR:236014 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd77112b-5d20-4e3a-9d9d-c3145a45b604 CA367398735 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7746baf6-bf76-48e5-a9c0-6739bfdffc0f CA367398735 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da16859f-9e2b-4ebf-bb14-e62185a80020 CA367398738 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e67db0db-5938-4589-ba3f-0a4cc6538975 CA367398738 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c6a1637-9fdf-4f83-a628-69c7f62cef88 CLINVAR:39759 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 351e7dd5-04e3-438b-9c3b-dd8f8e5f6602 CLINVAR:39759 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e83fbb5-c61e-4ee8-b8db-59b80e21fd43 CLINVAR:1685327 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c02d2180-5e8c-43e4-8ae4-d50d77e8d43f CLINVAR:1685327 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 115c8059-9645-4475-9e44-dd1213962de2 CLINVAR:16134 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 63961b2a-db0b-40ad-ae88-b6c3e899cf7c CLINVAR:16134 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 692cca45-fd39-4ea6-99e6-cbc576a20ddd CLINVAR:393450 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ab6a66ce-3f7c-46ba-a583-40826746c4ec CLINVAR:393450 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05a3612e-e08f-41f2-adc9-970b01367744 CA367400787 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e9ac8a8-5b40-4896-b66d-9cfaa77c574c CA367400787 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e35baad4-09a4-41ce-aef0-33b9fbbe3dde CLINVAR:447413 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 82bb9343-f9b7-4985-927c-3dc09921c97a CLINVAR:447413 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bf7be11-ea09-4f2f-ba4b-a43506d846f7 CA367400788 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 47206462-fd48-4ae4-bcaf-43739b08ec1f CA367400788 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9d6870a-e79b-4188-aad7-22ff512859af CLINVAR:585924 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e8ccc2d4-2972-4235-905f-909e89eb5bbf CLINVAR:585924 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b8b08b0-4bc4-4ba1-b7d4-dcf694a9f72e CLINVAR:36241 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc547f2d-b0de-4d64-8d9f-99e5942f69b8 CLINVAR:36241 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfb9b912-26e0-4c97-bcea-377d781230f4 CLINVAR:1704126 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a077a8e2-e676-4c3c-b66b-e484899ebd6e CLINVAR:1704126 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79fb4dc4-cc3a-4766-9a65-f91ed49a508c CA367402147 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f3baa701-90d9-4f16-a81f-4b4f036689e8 CA367402147 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 462267e5-50a8-4209-a6c2-cb82af50a0e3 CLINVAR:690481 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f97bf266-8cb0-4902-b9e7-26b78c286c8c CLINVAR:690481 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65c57717-bcd6-4fe8-8523-8c6816e60df1 CLINVAR:825804 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2f0f3964-4383-4e65-98c3-0160e487e6cf CLINVAR:825804 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23f95f42-8404-47d8-9e3b-0ebe8e94f430 CLINVAR:480386 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8007bb02-cedc-40f5-8f15-23d972b203ac CLINVAR:480386 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e36ccaf3-6e79-4e1e-aef8-068db605b16b CLINVAR:492727 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3a12bd83-b00d-4ad3-a1ec-a6a8a1eac90e CLINVAR:492727 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ecad38e-7aad-48ea-9b0d-99a96333f0ce CA377781872 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8c3ed3ab-d8d3-4549-9e0a-0c488c6934c5 CA377781872 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36a99f62-76c2-4edb-b190-b5e7ee387b2e CLINVAR:936561 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8d3e346d-a3fd-417e-94d8-97cfd2ec7bcc CLINVAR:936561 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ea1c9d9-556d-41ca-9ac4-9fd6ce83a8db CLINVAR:1691744 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 14b692c5-7c8d-42a4-8055-d1f785f92c16 CLINVAR:1691744 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fe100f3-17f3-4083-ba43-521ad50a12e9 CLINVAR:1182096 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a9518747-e4ff-4a7c-952a-b324fd4b763a CLINVAR:1182096 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55c763c6-6e01-4c2f-86fb-854c3b375fef CLINVAR:189481 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 98429f43-ee83-41bf-9f82-7b17701a8fb1 CLINVAR:189481 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a831f121-8796-4fca-892e-6a9ca235f240 CLINVAR:468680 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fbc37797-e9ab-4d58-acc8-45d678794516 CLINVAR:468680 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfd285a4-46bd-4d57-86c7-2b58c0fed870 CLINVAR:967900 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4e900cdf-9928-4610-ab46-824ab5392f72 CLINVAR:967900 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 011479b7-19f0-4106-b740-bd2adc8abc8e CLINVAR:13141 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 687b4928-15fa-4baf-a20c-e8675b782687 CLINVAR:13141 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57ea690e-a8d0-4bcb-b5eb-d50dce08b7d0 CLINVAR:2019436 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7476df24-8fa6-44af-bf77-79b6be91f032 CLINVAR:2019436 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0cc6a87-19ce-41a0-833d-647e9d67c2e7 CLINVAR:936307 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5c4a5d4-c2b4-49f4-8abc-61d41650e676 CLINVAR:936307 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5da6705c-d784-408d-8b08-97cd16f78a41 CA367402227 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cf0bda8d-13a1-463f-ab10-b14ef9ef40c4 CA367402227 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c0646f7-18f5-421a-99c2-96d6309a682d CLINVAR:435307 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 55ed3334-793a-4c4b-a734-ab4497b77c47 CLINVAR:435307 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6a18eb7-d459-43a0-9a77-4bb5d438f2e8 CA915940582 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b4355410-ba2b-4d65-9973-6acc1f028df2 CA915940582 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24d6162a-26b7-40e1-b301-9fa09eb867a0 CLINVAR:323558 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 99126c6a-dbc8-40da-96de-1b307ae8d2f2 CLINVAR:323558 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95feff7c-435c-423f-ae34-5baaf58da831 CA399805605 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 06f8b5b9-1d2f-471e-9923-2d23feae63e6 CA399805605 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2b1c854-96ee-4d41-a9e5-baace0820225 CLINVAR:892303 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a8f42e5c-05a6-48ef-b8b9-608af861e234 CLINVAR:892303 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a7a91ef-1364-4100-8a41-327b95043879 CA400021913 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bbc4109d-d801-4bbd-a7ac-c57fc5f06c94 CA400021913 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3257393a-2308-419b-b1d7-d4a2290a3b50 CLINVAR:891087 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 11a21393-d88c-481f-a6cb-83e7a3caa246 CLINVAR:891087 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c40de0b5-c1f7-4a65-8289-acc59ff23115 CLINVAR:627063 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1c3cb07d-d2b1-4897-8ab2-e1bb0422d5ea CLINVAR:627063 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c34f268d-9615-405a-9187-213d7b291290 CLINVAR:654335 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 85521e5c-63dc-4ec4-8e38-dc2a45740a3a CLINVAR:654335 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e73bf3d-1bb5-478d-a5e1-3a86962e92f3 CLINVAR:952576 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b1f37e51-dfa7-4efd-9e6c-4258ba0b1b42 CLINVAR:952576 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00bee506-81a6-49f7-a4e5-8e69794da0b1 CLINVAR:4673 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 109a225a-b0d0-4bfe-8f43-40cad05afe10 CLINVAR:4673 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58a9e829-9048-43d2-921b-b67301112ef1 CLINVAR:1322192 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e1e357e-a5a6-4688-93c6-0f37a7320c1d CLINVAR:1322192 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b101157-4ce3-4daf-aa58-35e7e6569937 CLINVAR:657472 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 33c9cfaa-f43f-4629-9f66-93999f0469b7 CLINVAR:657472 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 896bd134-5400-4092-a06b-deb54fae9742 CLINVAR:2136850 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e415a071-f70a-4dfd-a935-ce8f44c05928 CLINVAR:2136850 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3150d656-a7bb-4990-9c58-f3ce322e8997 CLINVAR:852821 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eeefd7ea-6153-4be0-b1bb-c7fbd2936d2f CLINVAR:852821 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16eb6e3c-62b4-4ed5-8c19-19def6799d1f CLINVAR:2150998 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d23b9782-9b1a-46a4-ab2f-777e71eb1239 CLINVAR:2150998 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffa33205-934b-47ef-8c0e-986f18c125c7 CLINVAR:1041357 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 730c1b18-5e6b-43d8-b681-676aa99e4c13 CLINVAR:1041357 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43cbb945-1f65-45ba-957b-b2550f498206 CLINVAR:556878 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3de64848-36c9-43b0-bcdd-c6c1a04b819e CLINVAR:556878 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f00c6044-aadf-4fd4-b48b-ce6d55f6d0d3 CLINVAR:225196 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0e0b6317-1977-408f-8b3a-04a5e7bc94d4 CLINVAR:225196 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceb0bcfb-2315-4b7a-8f74-4fe1535d9fff CLINVAR:225194 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1942d203-994f-40fb-8aa4-f3756aa62169 CLINVAR:225194 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89cad54d-a8c7-47b4-ab14-4d2b1514cc3d CLINVAR:947759 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 256cfd7c-7f5c-4fb1-93e0-75064ead5438 CLINVAR:947759 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3752e5ab-fb39-4e28-bfce-a3243a7ac54f CA413496512 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 27678b5a-e90c-4127-9a88-90072105c36f CA413496512 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45e5e0c1-968d-4c5b-809b-70abbb2499cb CA2695202143 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e42a2a28-c4e5-4aec-bc6a-eb9daa2771a0 CA2695202143 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf20f386-e38d-44b3-a4e1-0a73dea9a949 CA2695202151 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7bb7673f-0574-4323-a701-27964be2a436 CA2695202151 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7db812be-77a7-4a3b-a2ac-c1cc0690451c CLINVAR:585919 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 38eb64af-50a6-4a64-bd90-08e9fd5d5a47 CLINVAR:585919 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2af99828-f4b1-4186-88c1-780473f83a25 CLINVAR:973191 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 61acb8e7-7034-4dd6-a081-19425a800faf CLINVAR:973191 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4427de1b-4ff9-4a42-87ed-6418ef8cfd71 CLINVAR:447397 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f859d2ae-7ec3-46f2-98c4-8c65ae9364ac CLINVAR:447397 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68cb8a86-e813-4917-88ce-31628675e28a CLINVAR:522504 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 336bb875-5af5-40c7-af70-fcce732ec5a6 CLINVAR:522504 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75150fb2-9c06-47de-a3a8-d8d3fb364061 CLINVAR:162369 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b623a15b-9bd8-42d9-b8d2-04ee31bc67b2 CLINVAR:9654 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cf0b7e21-e401-40ff-96a7-a9f8ba102953 CLINVAR:9669 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 43e2a2b1-e809-4800-9c19-24bf3d63b29d CLINVAR:9668 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen de23ecde-bca7-4601-a82d-93bb75f96fb0 CA367402547 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3494c63a-0436-45ed-ab84-7bdc06206b4d CA367402547 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24476e1c-56a5-42bd-ae35-cb18fae93fe2 CLINVAR:407115 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fe4d07dd-7510-41fd-b00b-51ee595bf254 CLINVAR:407115 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 010be2a2-232f-4768-a2fa-57d917928d9a CLINVAR:435060 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f384889b-ff51-469a-8cbd-be9443a18071 CLINVAR:435060 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29ac0df1-6997-48a7-b27c-2f92df973c68 CLINVAR:282707 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bfc2eed7-3737-4494-ae62-c592f2a21b8e CLINVAR:282707 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6822c70f-4071-4365-8173-1080990c9d39 CLINVAR:458346 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7c6bb945-90e7-4d39-a485-2f96f0d6cb5b CLINVAR:458346 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8877f588-50dd-4461-b9b4-fb1d00fa7c8b CLINVAR:618625 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen beb40c5c-8cfa-4a38-89f9-004debcf5794 CLINVAR:618625 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b796ea1-3099-424d-bd4f-a60dc286863c CLINVAR:1352569 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c33247a5-7e81-4f34-af6d-2efb39ab8594 CLINVAR:1352569 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ad22c24-873f-4000-8170-ae19d1f3ccad CLINVAR:426118 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed5328bf-5a72-42d2-b8a6-66087001ad5a CLINVAR:426118 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7257ce0-85cd-4e9f-a6c1-f4ce5d8920f0 CLINVAR:565574 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 57f64bcd-c872-4577-b2e4-180150e54a26 CLINVAR:565574 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85ab705c-d95a-4755-9010-78e13f42e683 CLINVAR:414302 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b39b95d-7f8f-4e87-8cd1-1f137aff98cb CLINVAR:414302 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41d95ccc-53c4-4bc2-b42c-6590e153c0fd CLINVAR:8243 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f511cee5-f647-4ac4-ab4d-0d7e98335546 CLINVAR:8243 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3f0ab7e-412c-42a7-8fc0-3b63d4a88023 CLINVAR:1744752 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d7ac760c-9a6b-4a62-92f2-e267a8f32175 CLINVAR:1744752 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5c946af-0c92-4f7b-8001-23ecc2dbdb80 CLINVAR:811065 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c7de8432-8c37-40db-8b55-19d3408cc8f8 CLINVAR:811065 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 280a9288-c2b3-48d9-adc0-0371ab887616 CLINVAR:657805 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 95f4bdc6-3368-4c12-a3e4-6df8fc14cdc1 CLINVAR:657805 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2209a8c-4f08-47a1-81d4-7e78c53a2d2b CLINVAR:994236 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d060a3cc-9b26-4ce4-86f7-9cbf0db6fcaa CLINVAR:994236 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25a0febc-f669-4cdd-a63f-0b4a429445d4 CLINVAR:848699 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 92806384-42c4-4173-828f-4d49a0d2c2ff CLINVAR:848699 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52306302-7dfa-4a9d-962d-8b5218bd8554 CLINVAR:212802 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f0c0b00b-aa31-417f-be0b-8646104b0e5f CLINVAR:212802 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c5a249b-7947-40c1-be9e-36f0405840cc CLINVAR:1948619 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 46b84b92-3134-4d17-bf75-710b2646e451 CLINVAR:1948619 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdabd188-eff4-47ce-af95-d8e9e1da5d83 CLINVAR:411300 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen db770391-5c55-4d21-95f6-cd845a2d7329 CLINVAR:411300 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99b6663d-1434-42b0-a592-1aff62d519db CLINVAR:426040 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4641b142-5978-4446-9be2-39c5a71acbaa CLINVAR:426040 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5702ff15-3eca-4c1c-acdc-0cec11915a5a CA605238909 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 47c59525-d92f-448b-867f-de92a464a705 CA605238909 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebf63973-45e4-4381-a81c-e8838e96cb7a CA2740089968 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 61d51c37-4b55-4d7b-9cb7-490f98536207 CA2740089968 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0937291-bbe4-4aea-9f67-aeecce4d54e1 CLINVAR:237027 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5410f6ab-d6a1-418e-ac20-ba73eae113fe CLINVAR:237027 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17ddf814-16e4-4d99-aeef-cef6244e11b3 CLINVAR:9664 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ac8e47b-90f9-48d0-b34a-4baa9c1c9ef9 CLINVAR:800503 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1e26d06d-4310-435a-af60-ee844aaa378d CLINVAR:9686 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d9114638-8513-4040-b8b0-99b40dad57c5 CLINVAR:693440 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d76fad71-6ee0-4c71-8ceb-963027b7bdb2 CLINVAR:156375 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7bf43e63-8b43-496f-8eaa-36cc2e792fb5 CLINVAR:9604 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4106144b-9823-4c92-9d97-0feeaf35ffdd CLINVAR:690169 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e5c7398e-2835-45ab-a685-eccf16caf0c0 CLINVAR:690161 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f0208067-0061-464f-8af3-afa03442dce7 CLINVAR:376098 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 08409678-c2b6-4fec-9f4f-a2a24ad83b54 CLINVAR:376098 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fd3af84-f363-43ba-a450-db8427971359 CLINVAR:451690 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b041f954-e95a-4072-86a7-b748dc86218a CLINVAR:451690 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6dae1ad-5504-4b68-98b4-cbd330d8bce5 CA367402001 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a39c6a9-4f7e-485e-9d91-dba009e0a818 CA367402001 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc14d17d-75f6-4be2-9c23-6574cf22b88e CLINVAR:36218 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 77ce1901-8c52-4a35-b441-9463a3624117 CLINVAR:36218 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3223f91a-1b97-47fc-bb0d-390912f2f545 CA367401942 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c7e9c2d0-6b6c-40fb-ba6e-7bb4f571548c CA367401942 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e80926ff-786e-4208-a442-88dc3903445d CA2582131064 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 56fb59a8-11d9-4604-b76e-e3650b90ea98 CA2582131064 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31024f84-f78b-482c-9911-ba24cb327ca5 CA415077486 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f7397996-e558-4728-8cbb-3bfcf33fb8ed CA415077486 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cc2041e-94a0-4624-b8f1-e64c5aea9d63 CA2695201729 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7b362715-3934-4254-a2ef-02e07c7553a0 CA2695201729 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df927163-f509-468a-b6fa-18678a3d9191 CA415079810 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6d9ac4da-2d05-49df-ad1c-96861c0439d3 CA415079810 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 434ebe7b-be9f-413e-b5ed-e22fce7e8f9a CA2582121421 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d40374a3-1e01-451e-a73a-05f6464a30f6 CA2582121421 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba5f380f-9b72-4f50-a5aa-e1979a0641e1 CA2582121298 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen abd1d86c-353f-4803-8530-92212109869c CA2582121298 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ce8979c-a212-4df9-bcbf-42415b4ed089 CA2582121175 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fe5fe901-e267-4422-ac20-77e7c2b6ada4 CA2582121175 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f88c143f-dda9-449e-a4e2-dcdb9081df68 CA2582120572 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3aff988a-46dc-40ec-87f1-4e42316da5f1 CA2582120572 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8c6637b-c513-4d27-a97b-e4c1242d534a CA415083182 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5ea38fd5-c64d-4e87-b8cf-abb531f1487a CA415083182 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6e451e3-1d49-4033-aa78-4ef4fb0feb48 CA2582130583 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 152c3aa5-255f-46ab-80b0-b2d67ada5d7e CA2582130583 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 831863ed-4de0-4274-8b4f-30d86a2bba57 CA337220546 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 416ea53f-486c-4c7f-9325-95437481f763 CA337220546 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b301ca82-4c1f-4474-adbf-aab90cd18609 CA415090852 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c9d3467a-a700-4f4c-b5c8-d7b0c9b7f553 CA415090852 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae3d0a12-91a3-4e59-a3ed-8bf276ef16c6 CA915940480 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ed31b5c8-1a55-4206-a813-97194e1a6c37 CA915940480 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93389115-7547-406b-a909-93109ceaea33 CLINVAR:11704 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 84336f36-7684-4531-80a8-34c0be8b2779 CLINVAR:11704 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acac41f1-3633-40cb-8014-35e5da4411a1 CLINVAR:1303056 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ae9d95c7-9125-48ec-93fb-b45d7c3b0c30 CLINVAR:1303056 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e0d4ff8-9fc3-45e0-940f-6845958d0102 CA415084403 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d545bc4b-a260-4419-8320-0bca3983f8b9 CA415084403 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7822f55-d2a6-4327-8d02-e8a5b9ff2187 CLINVAR:2138757 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba09d091-9245-4045-afc0-239aeb89c696 CLINVAR:2138757 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0231dbcf-e482-4eda-870d-384002bde924 CLINVAR:92288 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ba5f7157-adba-4198-a338-c7ef9e5dec4d CLINVAR:92288 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acfba6e1-cad0-4baa-af81-06825e0007c2 CLINVAR:432108 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1643f7c5-8a24-4691-bd4e-aa44f0f2cba8 CLINVAR:432108 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9af35be6-0ffa-4e76-8a6b-73d58351a23b CLINVAR:426278 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 114564a7-35f4-4ef4-84f4-bf71c6f72234 CLINVAR:426278 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50643b16-3275-4a4b-a743-73a7b614918e CLINVAR:92472 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e781636-97b1-4010-9c1b-388dfba1f3ab CLINVAR:92472 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb91c7d1-b770-4336-8214-9116751f2de7 CA401366522 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b8b8dd18-af1a-4eb7-a39f-546d41632917 CA401366522 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86fd4e66-c8e2-4f48-b005-058826f76a8a CLINVAR:1695383 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 81380883-f5df-4607-8218-cdc320342143 CLINVAR:1695383 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a4775e7-9134-43b2-a538-f0e4521a671c CLINVAR:1363605 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b78c080d-5203-4291-8c91-b1d5d1a78947 CLINVAR:1363605 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55c7ac06-3ad0-45c2-a18f-c1e08d10b8ed CLINVAR:1897839 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 476ab006-27fc-4462-b342-ed5f6e017391 CLINVAR:1897839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40455872-a828-4354-8664-cb369a935743 CLINVAR:2024194 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a357a0b7-3fc3-4840-b3d8-f8227da9d77a CLINVAR:2024194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40d18cd6-67ec-4c1d-acdc-c2a450b06308 CLINVAR:2018650 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a20dd769-a7b8-40ab-ac05-9bceeb989499 CLINVAR:2018650 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ccea3e4-2156-4fad-802d-87edcaaa818b CLINVAR:1996224 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f128f214-cce9-4570-b61d-6a500efd10a9 CLINVAR:1996224 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e60960f-a6e0-42a9-9058-93dc239392bc CA1139771135 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2243e5da-b064-4512-b312-3e832c6edfed CA1139771135 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12a006d5-90a6-4cef-88c9-870985f2f932 CA410203348 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6dc924ea-4fd0-4b06-baca-4536a2f8a27e CA410203348 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66752537-5a97-4c36-9940-e7caeae43d27 CA1139771058 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 18d2e7a7-db45-448c-8641-678877ece7d3 CA1139771058 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5de37097-39b7-4c41-a462-a6a6693c7185 CA1139771067 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 58cf3ce4-93dc-4cbc-9749-08a104570bcf CA1139771067 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 340ce335-acb5-4f5a-873c-65460113935b CA1139771059 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8531c886-a180-4acd-bbd2-a9829fe96a25 CA1139771059 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65f0e467-0f54-45c1-8d22-65f03c252178 CLINVAR:972746 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 40b946df-e927-4df2-8e38-7dc69c959add CLINVAR:972746 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47e7d427-2dc9-49c7-9a63-9c2d88d04c67 CLINVAR:371277 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7dc87436-ce0d-4120-bfd6-1a86c47e5e26 CLINVAR:371277 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23d9748c-6da6-44ef-8c69-97f2338ec0e2 CLINVAR:1219617 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 31e6452d-cb7f-4f1d-b806-357869a84528 CLINVAR:1219617 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44f7b1f5-5a47-43a4-bff3-e702812391df CLINVAR:555998 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6ea8e8e7-2937-4295-8069-8d46c3e450de CLINVAR:555998 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 099de621-95bd-4013-8e97-6f7ebcbc451b CLINVAR:370278 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e8b9899-e0aa-4277-97d5-02a5119514ad CLINVAR:370278 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc5334e7-7c4e-4a1c-b9c8-124e6078290f CLINVAR:692768 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5ae07703-2b18-4395-b763-b02cb40cbe1a CLINVAR:42227 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d7a2e4bc-b52f-4373-8fde-3171cb8f0bb3 CLINVAR:9719 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 02e25377-c780-41af-8e82-970f8ada2fea CLINVAR:9697 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7f89758d-6790-44a5-879d-6521c46d5fbf CLINVAR:550716 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 59b29594-8e05-4445-af21-dd5043fec26f CLINVAR:550716 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0878883-95b6-49ab-aaa4-1c79e7052164 CLINVAR:188480 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f4ff5bd4-3f5b-4572-a31c-6146211b5e0f CLINVAR:188480 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0af769d3-0b51-4f29-8dff-c6c2173acd0d CLINVAR:971945 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b467e6a-0c2c-41ee-aa2a-65a4e0e216da CLINVAR:971945 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92165516-d6fa-4e82-9638-f6b301fd5d76 CLINVAR:280956 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bdc76384-7f25-46c2-8f63-82fb2d7d6bea CLINVAR:280956 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc070ffb-126b-4c3b-94b8-a0010ed79acc CA415088272 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c07136c-ccbc-4e03-ac60-772bf404d4c8 CA415088272 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4f9b47c-bcbd-4e6b-8330-e516382eae3a CA645287847 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4d705633-ff67-42a1-9dce-4a268445b661 CA645287847 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10eb7dbf-5293-45c6-b37a-321fa5e04bb6 CA2582131482 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3fdbfc05-601c-4262-976a-ac05893f67a7 CA2582131482 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3e1c6a4-fd05-4b91-a7d0-ca25dd9d4e49 CLINVAR:44729 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 05b3a421-cc72-4363-a274-43c4e5610fa7 CLINVAR:44729 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 238fbf91-8dae-453d-b078-ebfa95e29e71 CA415077715 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3dc609d6-4f95-4251-a8ec-c0c85383a756 CA415077715 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7cc5900-8611-4a2b-a02b-8c3329f2da62 CLINVAR:2290132 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 530effd5-ede4-4486-ab3f-b22fa4ad315e CLINVAR:2290132 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5add3e29-4325-418b-89a5-6f845736bd48 CLINVAR:551915 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b8dac87a-8738-47f3-bfbd-227dac2cfc5a CLINVAR:551915 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a68d0713-a9be-4ad0-9f47-cb56ebbedbc2 CLINVAR:2070085 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec64b79a-3e7a-4062-86a8-6825d144d193 CLINVAR:2070085 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b7f46f0-b63a-4dd3-ac33-273759fdfbfb CA10549369 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 77ffddfa-6d36-42c2-9a19-5ae81b381d91 CA10549369 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 545568d3-1165-4271-8adf-80a11a7de07c CLINVAR:11697 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e846c3fe-54be-47ff-852b-b36b38209f9a CLINVAR:11697 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 038e3361-1ce9-4e95-a472-17ef4735114a CA415086358 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c4468653-0b81-49e8-b54c-b1f3ee6f3e21 CA415086358 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cea05e6e-dfb3-42d2-991c-5725de18f02b CA415086460 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 47089065-6a8a-45c6-8b2d-0d212f96c93c CA415086460 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d939eff8-4256-41ef-8db1-b837cf48fe2f CA415086677 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8ed57978-fe07-4e77-b13f-e296f0307beb CA415086677 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a87e36d-ceb4-4169-b8a7-627ce4851032 CA415087081 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76f0bd1b-914b-491b-b844-ea489b2e9b24 CA415087081 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10a5de7d-c7b2-4fee-942e-3212d3290d57 CA2582119824 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e41b4996-d463-440b-8656-95b2b4c01eaf CA2582119824 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03639430-1bd5-4766-b1cc-a001a13221a5 CA519344969 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0001f1e1-36b0-450c-8d97-a085e6160ae0 CA519344969 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27645de8-6dea-4c27-bf2c-958010e0f08a CA2466438179 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 248ecf59-8e7c-46e5-aff6-072a92f59fbf CA2466438179 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce1b1eaa-09dd-45dd-bfc5-445b2726eb4b CA415086699 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d00d56c3-a0eb-4037-9948-b3b47283cfc2 CA415086699 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f952fec-3bb8-4cef-99d2-f9895ff30e36 CA2580617569 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 07cc226b-8d0c-44d8-945f-5da4fa99766a CA2580617569 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44373300-6477-45bf-9140-99d7c333db16 CA415083128 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a6cf5690-bc5a-4500-ab32-1ff564bf189e CA415083128 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98bb1ea3-6663-4df1-a854-aaa2a14a4667 CLINVAR:804101 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ca909bdd-e584-4e51-a0d9-761c5349288e CLINVAR:804101 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5816537-cf0e-4e6d-8ae6-fa11a60b141e CLINVAR:1802549 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c5257b24-ee53-4526-baad-fbe4a430ccb2 CLINVAR:1802549 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed0b1682-81b3-49f3-9a61-6af876cbb822 CA415077156 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c77fcc9a-14be-4ebe-aec0-15611f27d0a9 CA415077156 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c760ff69-d38d-4deb-9a5d-f7ff93d10408 CA2579985607 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f5443256-c954-4bfe-b4db-0882e53ecfc9 CA2579985607 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c925d83-9052-4fa2-a59b-d4a1091e5b0c CA415075833 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 50687881-2b10-41d7-ad01-1371fe82d42d CA415075833 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c927e484-834d-403f-86e8-c64f6c1a60f6 CLINVAR:1256306 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 65ff5ff8-9852-4e62-bb6d-458119bf8104 CLINVAR:1256306 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4882e03-3c2d-4c18-b53e-9f128c952b65 CLINVAR:585920 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 86c94e31-56fc-464f-980a-69f2dec0e69d CLINVAR:585920 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77d20eba-725e-4df6-b3d8-ffa0dfe783d0 CLINVAR:585907 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c138be3a-a0c2-4e40-9904-f85b71b22494 CLINVAR:585907 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f1144f9-7a8b-41b0-9901-71abd1f01fd9 CLINVAR:447378 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fd67f6ad-6c65-4947-adbd-5ba0b7ae6d0b CLINVAR:447378 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93b3d77b-50aa-40a1-b04e-396f8fa674de CLINVAR:36170 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2c043d5a-ed10-4d5f-849a-4f6040760e3b CLINVAR:36170 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d1ad235-46f3-41e6-bde4-0bca3b7f23d1 CA367400138 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 92a0db9e-6479-4375-9a5f-1478217d9fed CA367400138 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0c513a2-0ca2-45df-b05d-00baf2109da0 CLINVAR:393447 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c0364d0b-4b37-4afc-a711-e5cd64b59708 CLINVAR:393447 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef151122-86e1-45a3-b0cb-493b1cbe7992 CA367396861 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aee33cce-2b9d-4dd6-834b-b5cdb7b2103a CA367396861 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1023441f-d3e7-4586-9fa5-0dc3af94e0f1 CA2740067583 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a79a365-7a27-44f1-947d-a8cb6c72ec7d CA2740067583 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23e76241-f605-4b36-87ec-1cc2b8386ecc CLINVAR:1683587 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a33a3ff-445e-49f6-9aa7-f27efb679747 CLINVAR:1683587 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 831940af-cdb1-4f9e-a19e-94c4e057e94d CLINVAR:800346 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d92c6e47-d8f2-4c80-a0f6-c42efddc42c6 CLINVAR:800346 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0662d979-b743-4522-b294-9097ad441e9e CLINVAR:496628 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a541d46b-ab4c-42de-82fd-012275dfca1f CLINVAR:496628 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9b7564b-f3eb-4821-86f9-5da4bb649f3a CLINVAR:36718 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 43a5ae55-7aa2-454b-b1ae-0fd54b2036e5 CLINVAR:36718 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 710a5d86-17c1-43d1-84ec-2934381495e8 CLINVAR:36717 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a2fbca55-0f75-4c44-b976-1aa18371c939 CLINVAR:36717 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f61c4925-ba5d-4e3c-8575-ec8b753bfde8 CLINVAR:304553 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73a016c0-96b4-4ca6-ae84-b1cbd197e171 CLINVAR:304553 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17e24fe7-1dad-4c20-903d-dabd7aa102c3 CLINVAR:496624 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 00b1e064-ce1c-4658-b675-0937faa88826 CLINVAR:496624 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0db9e7e-c939-4277-ad29-195bb0c87f69 CLINVAR:971474 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e24d0fdd-4ef8-44bc-a8f8-568ebd0747ec CLINVAR:971474 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0941a3c-632c-4b4e-9df3-9b9a2556d7bb CLINVAR:1015912 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f986d2c-5efd-4919-aad9-6fa7b1a8f460 CLINVAR:1015912 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eade4c8e-1833-40d8-a4fa-7c049f923680 CLINVAR:1035293 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c8a54be0-111b-4174-ae0e-f64a9ace74ef CLINVAR:1035293 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 164405cc-8dc5-4628-aba6-9a787ecdb9bc CLINVAR:661326 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e28d2700-6911-40c9-96d5-53b0c8fd4e02 CLINVAR:661326 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c78814f-bb13-4466-9cb2-8c58b8292673 CLINVAR:2062424 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 34e98e1a-4d44-421e-8abc-22d2b555e103 CLINVAR:2062424 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd8ffd0c-f1ac-41d8-ab5b-bcda25e2a6e9 CLINVAR:958156 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4d3e3a00-9b54-425b-83fa-01af1f68220e CLINVAR:958156 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d53c3653-d6fc-4646-83a3-974f82e52667 CLINVAR:1936229 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6426dcdb-3e53-4869-b454-a61a2566b067 CLINVAR:1936229 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dc45657-1bb4-4530-857b-2570963795cd CLINVAR:1199335 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f3a454a0-3149-4126-b38a-b39335d6fd71 CLINVAR:1199335 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7290ae1a-f09c-4e4b-9dbd-1cf5436ba9d5 CLINVAR:860679 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 670f6dd4-46d7-4e1a-bdab-dfae9f209f86 CLINVAR:860679 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7b171c0-d859-485a-9a01-f60fc9260fa9 CLINVAR:9723 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e617844-1d77-4da4-b963-9468815aa716 CLINVAR:2138345 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e2f07375-22d9-4b7a-bcfe-4057a95c8af2 CLINVAR:2138345 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 238936ee-f737-4bdd-925a-39fc71fe4ebf CLINVAR:134574 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b70d5c36-1635-4507-8542-2260bda0ef02 CLINVAR:134574 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f4dc06b-43cf-49e7-ad9e-99bde5cb0c58 CLINVAR:1406981 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3557ffbf-c371-46c7-a0fd-c8474aa5d8d8 CLINVAR:1406981 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ffed36a-6b55-43fb-8fc7-3b8de39dcf8b CLINVAR:1068640 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 635475c4-ecea-429d-ac10-d465c8f59ec9 CLINVAR:1068640 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14ed3a42-fab5-4693-9773-e08cca771e50 CLINVAR:714463 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6f661bbd-39f4-4522-a332-85923b278f58 CLINVAR:714463 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e285827-a82f-4b7c-b016-25e48a082c12 CLINVAR:994900 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b7f6736c-1b64-491d-9bd7-903b387d0ad4 CLINVAR:994900 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7edc312f-f260-4837-86ee-1ad4c375b8c3 CLINVAR:524154 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 238821cd-d6c6-4ac7-b9c9-074d79e5255f CLINVAR:524154 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd43cfa9-560c-4a86-9256-d1e9ff054a02 CA9870171 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e3bdc220-030e-4604-836b-9e628020a2a6 CA9870171 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5df6ffe4-429f-4bb5-83a5-be2c43ea0d30 CLINVAR:156152 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 06f06a29-b4ac-4849-9f93-271521a75059 CLINVAR:156152 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9bfabb7-b88b-47e5-9823-8e466d9edaec CLINVAR:372382 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 613a985d-2615-4246-9916-9e9d11cf27cd CLINVAR:372382 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cb48fa2-520b-4a36-9d1b-a51292a21229 CA409103960 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 66423af0-aa3b-4c61-9c7c-e3f90b0f8d0b CA409103960 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e4f1d55-cb67-4041-aee2-cd1d6b27a5a8 CLINVAR:546494 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a077053d-3be5-4dc3-b627-7ebef4f7987f CLINVAR:546494 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bd467b4-eb8e-46be-af7f-59c95790507c CA409103971 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9e83fc78-e3b8-4913-8cc9-701a780956cb CA409103971 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ed1c58e-6ac1-4486-bab2-daa73b323203 CLINVAR:435436 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9a3c70c8-a564-4261-a046-fec7c8495b32 CLINVAR:435436 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8adffe75-d69d-43eb-aea4-dcdc0275670a CLINVAR:520895 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d798e514-7ec3-4b61-98ae-dd6ea765ab60 CLINVAR:520895 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc963b27-6b69-4d47-ba9a-ab9c3f573346 CLINVAR:430844 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ace81d6e-b042-4397-8e09-4321d7b992e0 CLINVAR:430844 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1311dac-388c-4910-b4e4-76f78bab9ade CA409104280 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 531ee8ca-87ca-48aa-9862-a9a0b19beaec CA409104280 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db24b7f1-dda6-470e-953f-731beb63a162 CA409104356 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23b33a18-26f9-4062-a661-0037bf606d0c CA409104356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eeb8786-d152-4193-b3be-002a3e0e0ffd CA409104394 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e4d56d91-8aa8-4e7c-92b1-7a9a288de87c CA409104394 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4583eb1e-1e8b-42a5-8a68-2475f7cda757 CA409105356 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 97891593-702b-4ca2-9362-d94d4b985ee8 CA409105356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e4c5a94-44c1-430c-ae8f-79a03f6ca8e2 CA409105413 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ed575a9-ea2d-419c-a2d6-4a9320879921 CA409105413 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51dd013c-e16d-4067-ad7d-0b07de425cd6 CLINVAR:995121 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5de79b7c-497e-4de5-8a6e-7ed2548942fc CLINVAR:995121 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d306f160-c623-4ec3-80b4-de3551d2d029 CLINVAR:1457657 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f68bcc9c-9391-4530-930e-760736761a45 CLINVAR:1457657 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e518fdd-5c97-47c2-b01f-34aea4988f67 CA2573106197 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 030103a3-8e17-4559-8728-28fb5fddef6a CA2573106197 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2c879b2-f377-4641-9c50-74b89b58e1f8 CLINVAR:450787 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a6362595-b1e1-43bb-a094-451c4041e675 CLINVAR:450787 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad71fb25-d126-4a50-8310-dd741574e06e CLINVAR:36364 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3d108e44-25b3-4f8c-a41b-b18579839c32 CLINVAR:36364 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c791e051-00fe-454d-ab3b-e6f176b9002d CLINVAR:435439 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 903cbc1f-f592-4c1c-add9-f6f65b9e78b1 CLINVAR:435439 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a57af6d-88a8-4184-bc69-a29ac457730b CLINVAR:587398 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 426c0401-26b1-438e-83ef-b96608d7693a CLINVAR:587398 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a34465c8-e965-4a0b-9bb7-c54bdb63d775 CA9870374 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 65374395-9280-46de-9948-10c207791207 CA9870374 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a4a8455-71ce-4946-b57c-cb342b318031 CLINVAR:447524 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a9476b87-ef53-4c67-b929-12dd56246848 CLINVAR:447524 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30aee2c4-75da-4946-b7bc-b56f222083a2 CLINVAR:804918 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen be821dd3-c543-4abf-9871-1115796a657c CLINVAR:804918 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b9c3e1d-36b1-429a-8f83-7f5d50c8992d CA409108073 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d4e05e53-2bd2-4932-9af9-2e35b2dab5c4 CA409108073 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 560a450e-c735-44f7-a957-c3c18f1f1312 CA409108074 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 260426b4-1f82-4a99-baa3-70250115f677 CA409108074 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dabd90c-3024-4a82-8c10-4b53b69df6d8 CLINVAR:447513 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5ef4776b-d05c-4db9-b748-a046a649aa78 CLINVAR:447513 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6ebb621-f3ae-4406-8489-fcebc612405b CA409110425 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9400eff7-2b29-400f-a6e3-860660446c21 CA409110425 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2a0b8e9-36b7-4423-9cd6-6e54412e6147 CA397725976 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cd128bb7-dd37-417c-a5f3-34893dc900e1 CA397725976 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3c5ad7a-a698-4c5c-8ef5-0f091b0d9e66 CA415078666 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9350d9da-b620-49c1-b818-4941583fc793 CA415078666 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e024b0d3-2cd2-481f-b433-7e3f7ed04986 CA415078874 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ff5645a2-9251-45ce-9d92-b208d79f9886 CA415078874 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b3a9f5e-3fa7-46bb-9557-1e2e7dc0ef95 CLINVAR:428204 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b4a30937-949e-459d-8623-bf95e8ad27fc CLINVAR:428204 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 479a0ae4-b49a-4b24-993d-b77d7f0c9476 CLINVAR:854960 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15ddf3c2-449e-488b-9323-0aa0bbea449a CLINVAR:854960 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a66f16a-d937-4bfa-8707-e92d1947100b CLINVAR:1406308 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9fc9f3dc-2703-4151-b976-3ef5fe9c33e7 CLINVAR:1406308 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a63bffa4-2c8b-4907-8cb0-e9f2cefd4090 CLINVAR:428222 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d343a607-bafb-4d39-a23a-0df4749ee891 CLINVAR:428222 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97ecf152-19bd-4382-a003-cc6a1899d3b8 CLINVAR:198683 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7c6bf0a7-4260-4f84-a6b8-e4dfa5b75b03 CLINVAR:198683 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a180acd-7cda-4d1a-80ce-f5eba8c2f59e CLINVAR:166643 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ae0a2c30-4b63-4c33-8f0b-5d46b31551cf CLINVAR:166643 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54aec1a7-b1fd-4b0b-8bd8-73297ad96b91 CLINVAR:952947 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2607b8fd-cca6-4ae7-b7b9-1b45464ef7d1 CLINVAR:952947 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba3898d7-4583-45cf-a1f0-e90c466cf136 CLINVAR:1684354 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 96e28c00-37cc-453b-8fd7-c25c9008cbe5 CLINVAR:1684354 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35f0bb19-505a-4301-94db-9038b5c24a6d CLINVAR:1695377 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 55d87018-f466-4509-8cb4-5c180d4690a9 CLINVAR:1695377 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e44787bc-c81b-4907-97b0-e730a2321365 CLINVAR:627020 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c4adb8ef-e17f-47a3-bb03-9ec525bcc490 CLINVAR:627020 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4b30e71-0e8b-40be-ab32-4b0f7cdac379 CLINVAR:890528 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af8200d8-bbc7-4051-8777-7dc6d832c659 CLINVAR:890528 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca99c5f1-84be-467d-9635-a59de5302b67 CLINVAR:1684321 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6e522ff4-4d74-44fb-8db9-2d04a518b0cd CLINVAR:1684321 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43b6da46-bc31-4386-9596-2eff44c5f580 CLINVAR:1684322 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f3a3cbeb-e265-4467-bf99-c957416e12e3 CLINVAR:1684322 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3096f061-71fd-46bb-85e6-72e9ce05d615 CLINVAR:932221 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5e6887cd-0815-4f25-915f-a7d4be8d6083 CLINVAR:932221 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bb04351-04b9-4f43-9893-92080519edd4 CLINVAR:995370 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e9088727-1a4f-417a-8d12-ffd9c5bdd9e4 CLINVAR:995370 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ea92312-107d-41b7-b8fb-996c97139dd1 CA367401928 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79d250b4-a0c3-4acb-9ec7-1004d930d77c CA367401928 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0a5a408-9352-46a5-a64d-b96126cd3d6a CLINVAR:1741488 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0252d4dc-db30-4f15-80a1-814b3927e70b CLINVAR:1741488 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e52c3eb0-8faf-4fd2-86a7-e43e2725afea CLINVAR:36221 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ab2ff314-01a6-4812-87b8-e4047494f685 CLINVAR:36221 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdf86237-2adb-46db-b338-948a891788c6 CLINVAR:36223 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f0c883ce-454b-4e86-879f-0a8e35cd452f CLINVAR:36223 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6c66920-0b31-424f-816d-9bcdbfd97534 CLINVAR:447401 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f65a6944-6bbf-4276-abc4-0090e034c756 CLINVAR:447401 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb38d83b-739f-417e-a2ae-a7c377282f1a CLINVAR:283358 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen baeda254-ef47-481d-9737-c5e60bb8b342 CLINVAR:283358 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d5cbd32-9d60-4fca-9d3d-f51dfdc690fc CA367401376 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aadf34f3-3d05-4995-8aa1-881545828684 CA367401376 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea533a3d-92ef-449e-a110-0d7a86a92425 CLINVAR:2431839 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dafa6da4-19dc-40d8-96cd-3ac8efcf49fc CLINVAR:2431839 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 442d9e0b-31e2-4a7c-b25a-48d5b0ae7dab CLINVAR:1371376 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b4795cc0-0a71-4010-b6a1-c8a44449fadd CLINVAR:1371376 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cebaa74b-397b-4bd1-829e-380432176f47 CLINVAR:973969 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1320bb2d-34e7-466b-8f49-2c6ae7422d29 CLINVAR:1452579 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6fc9c35f-70aa-410d-a50c-dcf6531eade0 CLINVAR:1452579 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31910bb9-c9ea-490b-8d95-637e4a50bf7a CLINVAR:98821 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 17875110-b7d6-49db-8d06-2dba92c84349 CLINVAR:98821 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dd0d265-2fad-4644-8e7e-e006c48f2f51 CLINVAR:1212838 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9663efe7-d0db-4072-bba5-fedb3763d941 CLINVAR:1212838 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92293b73-55f3-4cae-a80f-fea15977bd35 CLINVAR:427868 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dca6defd-c667-411b-b490-151a87b61618 CLINVAR:427868 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0547b5e8-d0bd-421c-bf2f-249f321b19ae CLINVAR:98830 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c3dcf6c8-5ede-436d-b227-f225567588f5 CLINVAR:98830 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6db3656-74b3-42cd-aa38-cf10fced8055 CA340742683 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4bfce734-37dc-415e-93a5-613b32e2e562 CA340742683 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cc975e7-f25b-4603-a1c1-bd7f2e199c56 CLINVAR:2131688 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e950283e-84a2-4526-8292-7b57eeb0b7ce CLINVAR:2131688 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79d71f74-178e-4b7b-8b6b-ccd0085dc3d7 CLINVAR:850613 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e2265714-db5a-4dbf-b1a1-ac4e41c9df99 CLINVAR:850613 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9f8f898-a23a-4384-83e9-28824963755a CLINVAR:1452575 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0a5282c7-b786-4e18-bbac-5d12857a286e CLINVAR:1452575 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4c34208-9023-4ebe-a4c7-16ef3584073c CA340741708 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6f86cb12-781b-4188-9106-fc25332ef582 CA340741708 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3063a031-3084-4b29-8f47-6ca9e6a219a7 CLINVAR:1321180 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 35415a3f-e98c-412f-8dd4-53251f0c9a58 CLINVAR:1321180 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5ddce5d-1860-40d5-b3bc-5f223a688ca8 CLINVAR:813222 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cf41c7b1-5dc2-4d9e-971b-8a961ad23014 CLINVAR:813222 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bda72fda-f02d-455a-86c6-09253d4b640a CLINVAR:1384701 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a072a6a9-e7b8-4a0e-b6e8-46693e277494 CLINVAR:1384701 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa5f0794-1791-40c5-a166-e108467d5e97 CLINVAR:1445004 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 48bca9d3-6433-4dc9-87f7-c7af9d70db12 CLINVAR:1445004 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f554d34a-ba0a-4a18-8e79-82757e066e47 CA340750344 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0ddb8431-e958-49ed-ac9f-c76b80c9aecc CA340750344 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45220a06-1232-4cd7-812f-b6c804593cc2 CLINVAR:559523 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7c0e56c4-64c5-4e38-8aa7-b2f0a530c07a CLINVAR:559523 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48eb9b73-7524-4796-8908-7bcaa4ca4640 CLINVAR:98873 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6ff3b6a9-38f3-428a-acf3-7641f412a936 CLINVAR:98873 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fb3eebf-df45-421c-84c1-0114eccf340b CLINVAR:98875 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 35eee0c2-1906-4969-9024-0863e0a8d9c9 CLINVAR:98875 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7392e1bc-bd36-40eb-9f8c-e417252b7897 CLINVAR:1074826 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bad5bc99-ddf7-4c91-8f5c-512e90dbb10e CLINVAR:1074826 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca3c6010-841b-47d8-b31d-a8a51975568c CA340750220 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b8f4874f-9ecb-484c-b280-f59e83b73c85 CA340750220 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b628866-8d66-4f12-97ec-55510e8d99e5 CA2586966741 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 23312083-e9e3-496f-ad5b-be0e7deab521 CA2586966741 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9eda69f2-1407-4817-857c-66cd77aed384 CLINVAR:437985 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a1c5726-70fe-4f8f-92b3-0f6c77165c60 CLINVAR:437985 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da18d511-3348-4c65-8569-97fd2094e1ee CLINVAR:556104 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e7e49129-aedb-4241-9de8-b707e774f054 CLINVAR:556104 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff0a9371-43e1-44b9-82ea-c39b62c4b281 CLINVAR:98891 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4ccdff76-d3f7-42a3-a231-25dd91fd5103 CLINVAR:98891 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f76bae83-c9b5-4918-8395-4273f2d4bebd CA2695202184 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cdbd84d3-d527-4e4c-8afd-d7103123f610 CA2695202184 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a1ec8b8-38c9-4a00-a9ea-8a1e64f23db5 CLINVAR:98895 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ca11c505-d731-4a5f-9ba8-0525ea1a16da CLINVAR:98895 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d280e7e-ec2e-4c23-af8e-8ee6f61de71f CLINVAR:1679125 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 006730bc-a95f-40d9-a18e-34986008a545 CLINVAR:1679125 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05d7d923-98b3-4cb2-8ee5-5b29d7b11aef CLINVAR:98902 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 282ad523-6dc2-48b5-b917-5ff1fcb36c51 CLINVAR:98902 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75eb59f2-e9ab-4362-b749-4ab5cc099143 CA340744560 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen defc75af-a94b-4372-959f-c78aebef1528 CA340744560 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 793c0e3e-4ed0-4fec-a7c2-7b662fb0b017 CLINVAR:971195 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f064a16-dcdd-41f2-b8cb-fb0c15e5dd90 CLINVAR:971195 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25348921-bf23-4337-beb9-a64b7f7d28a1 CLINVAR:2098676 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e4aa429-e35c-466d-8e1c-a07a687b5819 CLINVAR:2098676 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a494114-9d60-4834-8ad6-b219b43ba2c8 CLINVAR:1515226 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 36bf2851-ea67-4ee4-bef6-3abfae300216 CLINVAR:1515226 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 328ce095-6003-4ff5-a3d8-6a2b68cc5e6c CLINVAR:1348464 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b2581bc2-07fe-4300-a6a1-682058586cd1 CLINVAR:1348464 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b77cf547-55d6-48ef-a347-c3a4d1b24622 CLINVAR:2269371 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 44e272b8-529f-4f90-8824-495f3b2d0a3c CLINVAR:2269371 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7571979e-0c9d-48a1-8fd5-ed1c073c0dda CLINVAR:843919 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b833b41-68de-4dbc-a4c2-3923d9c84352 CLINVAR:843919 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff174f98-41e2-47d5-9707-eb4bf2313f90 CLINVAR:2079766 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7f5f6000-d055-4e86-8257-5e6988b33684 CLINVAR:2079766 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5cdcdaa-88c8-4842-80c0-05d2ee334ba9 CLINVAR:2199784 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b6f05da-8bd5-47cd-b7d0-a01c592fe3d1 CLINVAR:2199784 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b05c7b3-9181-4f1c-966a-1cf6c4847aec CLINVAR:1038658 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5329016b-f0cf-4d1e-afef-b690fa75d7bf CLINVAR:1038658 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9475a2f8-b0f6-4020-9d1c-ceaf5d8597ff CLINVAR:1195941 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7351bfbb-a42c-425d-a301-48a0dffe40da CLINVAR:1195941 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23e17a94-09ac-41fb-8a87-4475bd4a99f9 CLINVAR:1507601 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d1f49d13-5a8d-40e8-b631-17261b84ed96 CLINVAR:1507601 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6994c51a-424e-4e84-9ce5-13e2dbe0ca97 CLINVAR:1357028 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3d0d12c6-9761-4e9f-b7a6-6004c627f472 CLINVAR:1357028 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e9ea332-0dd5-4bea-b7f8-e3f9f31e0c7e CLINVAR:950101 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 96564ce3-8cba-4eb1-a02b-15448ef1350c CLINVAR:950101 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aab17a18-e77a-449a-9034-426c810d3ac0 CLINVAR:1626393 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 06e0b2a4-7872-408c-b16a-e56ba9d5dfa4 CLINVAR:1626393 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c99e4f4-ae9d-476c-b5c0-04f5d4400569 CLINVAR:2009484 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1628772c-e66a-4c50-a586-db7a60d5b143 CLINVAR:2009484 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c068f7cf-75bf-41fd-8f90-e03231a42fb2 CLINVAR:845973 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen faf174a3-d293-4613-b6fa-276901a0f57c CLINVAR:845973 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef7ea533-546d-4b81-b1b1-5e972a67c0e7 CLINVAR:897016 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f5c9980b-9583-4e61-b216-8a3a06074063 CLINVAR:897016 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e477d48-a2ca-4c30-95f7-20aae199c773 CLINVAR:194316 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d09afdab-4c16-4212-9240-f12f49ff5e7e CLINVAR:194316 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de0aca9d-5066-40f3-9280-9cf44dbcac37 CLINVAR:541723 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a636d09a-76a7-431e-8974-177243166ad7 CLINVAR:541723 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 858b5dad-c77d-4d66-b466-17473b43b8be CLINVAR:36199 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 383fbc94-c9b3-46db-a2b4-574ec713d9ac CLINVAR:36199 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c55fc0d-466f-4447-a392-d4d2f7c7390b CA367396925 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0a1d8b55-1f8b-40f2-894e-b1074eee6416 CA367396925 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6972938d-a061-4503-b62e-98b31a7df131 CLINVAR:36195 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 835d4569-0ec0-4d9f-9a99-1008e454ce13 CLINVAR:36195 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fef1241f-dee2-4b20-8023-e4ceb68db06b CLINVAR:36194 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6360ccf2-3f22-479c-8dcc-703f4a5f1d1e CLINVAR:36194 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62c4a664-fcb3-462e-b76b-9bfb95410524 CLINVAR:585912 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23bb9548-5029-4e3b-b5a9-6d303506a985 CLINVAR:585912 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d429f50e-7da1-467d-98d2-708235428728 CLINVAR:36189 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9c5e6b17-fbad-4d8f-928d-4a94a614c149 CLINVAR:36189 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 771c5483-e307-4054-85a1-883b680e030a CLINVAR:447389 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b8833ba-decf-4a18-8169-e896e39ee796 CLINVAR:447389 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 725639f9-a421-40a9-ae91-427d00e85abd CA367398282 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4701424d-28a5-454d-b4e5-8d02ff429e6d CA367398282 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab02d3ef-e7ba-4499-a2aa-bfd75f386149 CLINVAR:2734988 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 10592228-19b5-48e2-9877-7d5a0835f12b CLINVAR:2734988 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f72be61-41fd-4db0-9685-d701851f453f CLINVAR:447387 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 41048778-c807-474d-ac4f-42a6d95e3d0b CLINVAR:447387 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 562d69a2-6ff5-411e-a3da-103097163a67 CA367398289 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 35b3b32f-f02f-4dee-91e9-179b858412cb CA367398289 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15c8ba35-86e7-49d6-99c0-fb3cfac7eceb CLINVAR:447386 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7eb7c39b-b4bf-4ee5-b90a-db5012a0d944 CLINVAR:447386 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b497960a-15da-4286-9a61-40417b44fe77 CLINVAR:3233995 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 56ff7fee-ec7b-41c8-a81f-1975edd00126 CLINVAR:3233995 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84beba77-f051-47b5-bbef-d695fba2208c CLINVAR:1472875 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 332b539b-2045-45b4-93e3-b13cb27e439b CLINVAR:1472875 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7adac1c-b729-4a9a-8ad0-099655b01d92 CA367398311 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3f3334b3-4fd5-44d7-98e4-87c85c02f205 CA367398311 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f1bbba9-316d-4ab7-a24d-9f864f5118f3 CLINVAR:1303094 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 59c76faa-40a7-4789-afec-639f751bf45c CLINVAR:1303094 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b32cad9-f103-401b-841f-3cba09f30dd5 CLINVAR:36183 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8801058f-909d-43e8-a3e4-af0e46f04511 CLINVAR:36183 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dee58951-b44b-425f-a1bc-3107cee5c37a CLINVAR:36184 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 27620c95-6a62-4998-ac87-40464f1ffd8f CLINVAR:36184 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe53d94f-48f5-4adc-b841-f7c44bc291a0 CA2580610955 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c632cb1b-3c72-4acf-85c0-916005c8ede1 CA2580610955 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5309ce40-2452-4a58-beef-3d53de751faf CA367398660 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5d7fefe5-27d8-4d7f-8d62-c5f22a36dabb CA367398660 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06366607-e102-4d26-99cf-aa4319b5d0c3 CA367398657 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f0a41bf7-0569-4488-aed8-62fc20369a15 CA367398657 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9207a2e5-2724-45ab-bbbc-1f835583fa63 CLINVAR:280892 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 30ebc37e-a397-4906-8625-660c057326bb CLINVAR:280892 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8999803-1e1b-40de-9e99-9f5be555aa89 CLINVAR:36180 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ad7305c9-5d35-46f2-89f2-299f91358794 CLINVAR:36180 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2361bb8f-eb51-474d-b892-6a4c29baa91a CA367398699 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d9ea1927-e952-4f21-901e-0ce39cc6e2dc CA367398699 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7306cefd-4ed9-4358-93e1-aedf69ce4f8a CLINVAR:804837 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b910289f-5356-46c9-a198-6bbaab0861cc CLINVAR:804837 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faa54f35-fb29-4033-9144-498d15ac9144 CA2580612101 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ae011fea-9a13-4760-8354-ed233b5309ba CA2580612101 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ef78398-8343-47ad-8842-f6b3f9aa42fb CLINVAR:219179 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b73d5eb8-6a5d-4092-998e-088074e266e8 CLINVAR:219179 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db458dad-77b2-4f4f-a577-11993164a401 CA367401894 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3261c56d-5776-401d-8c3f-7bd2d5ef46e6 CA367401894 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2966f487-f791-44ba-b591-78c78941b695 CLINVAR:2567920 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2aa84467-e8ac-4155-976f-5a119c46ddc6 CLINVAR:2567920 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f198d838-27ce-4614-bf74-f94f70bd21c5 CLINVAR:1512780 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e740e3d3-42e7-41c8-afef-4c1716b4c7b7 CLINVAR:1512780 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b347b099-945e-461d-a0ce-99cb283e0e8d CLINVAR:990457 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f3b8039-0fef-4ac6-8b3c-70f206018ad1 CLINVAR:990457 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 136fdb92-2659-4215-8010-f16eb4b90ca8 CLINVAR:1309924 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 983badf2-5247-4a0f-b44c-36bf3c0639ea CLINVAR:1309924 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a0eed21-0e56-4620-937d-158aee40833e CLINVAR:898483 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3fdc2b56-b164-4e93-ac09-dadcce213429 CLINVAR:898483 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e2992ae-7d3a-4ebc-8944-8e19f2991e72 CLINVAR:8800 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen da84d60a-2c17-46e5-b227-dfe8a2800983 CLINVAR:8800 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc38913c-9c62-43ff-a75d-26df91ca28ab CLINVAR:812796 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d287a602-0a5a-444c-87fd-1e2c514a1206 CLINVAR:812796 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4aca223c-a3b7-471e-af7b-fcf9aa48b0cf CA409106055 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b10db5a-a3d9-4c13-9cf5-dfc98ca1c48c CA409106055 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b9c516f-234d-4480-a0fa-e27ab56fb1db CLINVAR:304560 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e41eda57-e760-492d-ac3f-3b0742837584 CLINVAR:304560 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22f63535-540e-4dac-b0e4-8f378ff1cb7a CLINVAR:2301303 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e3330b91-cb90-44f8-afaf-281f447dcf67 CLINVAR:2301303 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51482699-93ca-4cc7-aa53-ab926a1b0e2a CLINVAR:857533 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 029a61f3-e07d-4ca1-9aa8-34b37e2c1cbc CLINVAR:857533 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3e0fa7f-f7fb-49ef-8b87-4bada21eef2d CLINVAR:658239 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 74ec3285-5e1d-423e-b066-b934678c59c2 CLINVAR:658239 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ec95cbb-4684-4558-821a-ef2a79f79dde CLINVAR:879522 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee71bf29-56ba-4989-83fc-66824d9861d6 CLINVAR:879522 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b92517c-c555-46f5-a624-79987f8ca7fe CLINVAR:990456 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb965b50-d4d0-4491-a986-f35aa8da67de CLINVAR:990456 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b6174dc-7470-45e9-80fa-4f84cff58fde CLINVAR:662119 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen beedefde-9865-42d3-bb77-68134ce3780f CLINVAR:662119 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df87834e-966c-46c7-89b1-5f322e17370c CLINVAR:382795 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6632a7ca-7372-46ec-8a24-4fc942fea24c CLINVAR:382795 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7229488-9993-47f9-85f1-0bd5c1782727 CLINVAR:1015428 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 32f03ff6-acd6-4d30-8a53-ae0395803ca2 CLINVAR:1015428 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7961dc6d-d139-4e70-ae95-1a541e32a2f7 CLINVAR:960745 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd820237-c328-4dc5-9882-96506d1f9f4b CLINVAR:960745 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bed1c72-be99-43a9-9f75-6d7c1d1cf3fc CLINVAR:2147602 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9c2c0e7d-d7b7-47b0-a2b0-f58cbad94510 CLINVAR:2147602 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0690577f-fd4e-455e-a961-2836fc75dcb9 CLINVAR:1696220 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 430f90b9-6e02-48de-ad9f-ba6b5d101486 CLINVAR:1696220 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f996a6b-66f4-4d2b-aeb4-98992545ba6b CA409106957 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3520157a-85a3-4291-bfc2-d77df1731da5 CA409106957 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07c86734-0cb3-4867-b605-1fc7b424e81e CLINVAR:212810 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aae6a52a-9eef-49db-9ef4-b46244f1b958 CLINVAR:212810 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1ea0bd6-d473-468f-a793-a8b2ed5b27b4 CLINVAR:8799 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6c4844c0-a041-4dca-bbfb-96e98ae4e67f CLINVAR:8799 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6f724f7-b0fd-4c75-9eb6-a6e004f51c9e CLINVAR:333645 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f29e525f-7faa-4311-9bda-251ac413ae08 CLINVAR:333645 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6162ed55-fcde-49f0-96e5-3fff5f70da57 CLINVAR:898486 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e975eff4-b9cc-4b4f-856b-344f3a31e943 CLINVAR:898486 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62a21d0f-ddc3-4605-bf5a-2663847c5a12 CLINVAR:409829 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 582e0bed-b35a-462a-a1e1-a1bef742ae5c CLINVAR:409829 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a671b28-2fa7-45b0-ada4-de3a8f15a806 CLINVAR:425943 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fa2af246-f009-4884-9754-eea9fd0c3125 CLINVAR:425943 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01d739e2-91f5-405e-bfd6-4b5897d1a267 CLINVAR:8797 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4fb96bfc-c650-4969-94d6-dc9f0623336a CLINVAR:8797 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 804ee242-8d7f-4f02-a52f-8f50d3817bf8 CLINVAR:425725 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 64c1be58-9ce0-411d-9ed3-052776552764 CLINVAR:425725 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48aa3c33-ae0b-4475-8d8e-e86fd5a383e4 CLINVAR:8806 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fd435207-1505-43cc-bf31-bba021fb5f64 CLINVAR:8806 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d1aa736-4cf4-433a-9bf0-9f631b37db15 CLINVAR:228460 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7964258b-3e08-430c-bdbc-9be37043dcba CLINVAR:228460 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf0b5002-2eb0-4d18-aacf-e4393e5a52e1 CLINVAR:425852 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 89c81c58-b726-4d59-84c0-2ef00427d489 CLINVAR:425852 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f9a4f68-78af-4150-a977-a8a63bdf8f95 CLINVAR:333647 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 92d51d9d-2578-4c13-a924-57b8c505e7da CLINVAR:333647 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f9c400f-6020-4621-aa89-9f03642b0c24 CLINVAR:623142 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 33288e96-82c2-432c-b5a7-4fcbb95f0e24 CLINVAR:623142 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a2cb669-146c-4206-9930-4307ec3d11da CLINVAR:623143 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 89869f4d-7630-408f-8ab1-f1205ff38774 CLINVAR:623143 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef1d451b-ae26-4f97-86e6-0301ca361941 CLINVAR:425800 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f495e1c-03f1-437a-978c-2c594b9af232 CLINVAR:425800 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb157adf-7282-40f2-a4e9-addacd9b1660 CLINVAR:627027 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 79af91fb-fec9-4e5c-b3b9-3e8bd5e5c68c CLINVAR:627027 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32374a20-48d6-4285-b27b-7f90d622460c CLINVAR:627268 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4d4bd4fb-ddc0-4c07-82b9-0e6967837082 CLINVAR:627268 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f0b3642-ffb4-4729-a2ef-6ba8ae9e8665 CLINVAR:626981 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b12f13a2-e659-43f3-8ef2-c520330dad5e CLINVAR:626981 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62bc4b82-ee96-432d-a1eb-9af029863c4e CLINVAR:627284 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 13ca4312-1932-4429-81e4-87ff85b944ce CLINVAR:627284 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38d38888-d274-41a9-b360-e04db6b45b79 CLINVAR:2092257 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5332e57b-f1a2-49f5-9e80-788a28cf1952 CLINVAR:2092257 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01a48f6b-4b73-4a59-a5c1-d780ce54a359 CLINVAR:425731 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 99deebbc-607a-4eaa-8777-8eebee5b3713 CLINVAR:425731 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe4b6bac-a4da-4bb0-b211-1fcb7d1799e7 CA400034189 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8610ab58-e723-4d50-a125-d884a0f06522 CA400034189 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ff93cea-cc00-41d9-a1e8-77084ef95b83 CLINVAR:626948 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 30b1f5fb-db56-4a21-b33e-0265ebc85b48 CLINVAR:626948 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0e715d0-ab1c-4011-b345-f480f44db714 CA399803746 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d84610b-a580-4224-848a-0e783d03a937 CA399803746 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f35ab4e0-cda3-420f-b07d-fa167fc5e6f5 CLINVAR:1349574 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 78654e0b-2587-4643-855e-32f6adb3beac CLINVAR:1349574 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70d0b99d-3a26-4059-a564-8b818d3d47f2 CLINVAR:36713 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 45d142eb-c3c3-40a1-bb33-4d3ee7bc5939 CLINVAR:36713 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 580d8e06-8cdf-4045-9727-dc32e6323e7f CLINVAR:1365761 biolink:causes MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 763e9754-b1fb-4313-884c-6ca34c33baf7 CLINVAR:1365761 biolink:is_sequence_variant_of HGNC:10590 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b42ab55e-2d1c-4d47-82a5-79ab2c2fa6ae CLINVAR:207024 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e6861a6-56b8-42a2-87e6-fae5abf7e7b8 CLINVAR:207024 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cda6765-d02b-4299-88df-fd7c5d632aa6 CLINVAR:189929 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d112313f-8f0a-4519-bde0-7173ce87ad6c CLINVAR:189929 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a44ced8-bdc1-4009-bca5-7c2eed05fbfc CLINVAR:425938 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f995d6b5-751a-46c0-9f07-ac9dcb79de8e CLINVAR:425938 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 839e5c6f-9cc2-40f0-9407-89f596650aff CLINVAR:1759366 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 74cb886b-0242-4130-b404-08e4ccf0d999 CLINVAR:1759366 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae380726-3caa-47a0-99d7-5358aa2e754a CLINVAR:656642 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 542d0cf7-03e9-4c93-a579-541021e54f64 CLINVAR:656642 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1825ba38-c521-4568-9b21-f7d6af5b7f35 CLINVAR:850948 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a443d738-d981-49f8-90da-5d8e90a1e9ee CLINVAR:850948 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd9287cc-71d9-4841-a8c1-e29e951dc8f0 CLINVAR:826421 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0e0613be-d18a-4665-a905-7b519bc74ff4 CLINVAR:826421 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d19880e7-3f74-4bab-b45d-d4222ff7ebe2 CLINVAR:543562 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b1fbd45-3ae9-4c86-a19b-5d0fe34b8309 CLINVAR:543562 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e60ba99-4eea-4e00-9ba6-e508b518ef6c CLINVAR:570615 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b2562a40-5505-448b-aa9f-374efcef4771 CLINVAR:570615 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47bc1a7a-8185-4937-9ebb-6d161a3310d0 CLINVAR:412143 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 287050ba-9746-41db-a7af-26535b765d34 CLINVAR:412143 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bce10619-345a-45af-9c42-54a74a4cedcb CLINVAR:652143 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76d7f2c5-96ae-49c7-b5b3-c9243ad2539c CLINVAR:652143 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 463af4b8-7803-400f-8b6d-14a709bdc790 CLINVAR:479649 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7b971434-0782-4b1c-b073-1df7bfbb07a2 CLINVAR:479649 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 510f7157-662c-405e-a128-995551229bce CLINVAR:477204 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dce62e00-8130-4bcb-bff3-d0dc21cf7b6c CLINVAR:477204 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 945b47fe-01cf-4585-a3be-151c511421c0 CLINVAR:1687238 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cf18437d-3b52-4fe2-8dd2-2d72994ccb47 CLINVAR:1687238 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25e1065d-ddea-4946-a56c-b5fbcdeb958d CA390867526 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 323ed562-8815-4b8c-8619-a9581a6e4b6e CA390867526 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19830dcd-8d65-475f-9891-15381a114def CLINVAR:285157 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen df58fed7-fb24-48ac-bd46-33ecdd969591 CLINVAR:285157 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ba4dec8-c835-444e-b56b-f1462bf24edd CLINVAR:189124 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0a9f2f8b-31ee-4c00-9771-1b4f2112bd70 CLINVAR:189124 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91dafbb1-3f4b-451b-b96c-08f7d59053a1 CLINVAR:253297 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fd17d775-01f5-48cb-bb64-2818ac3bb57d CLINVAR:253297 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86dbd20f-2ca9-418e-b3c9-d29a5be529c1 CLINVAR:694309 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 582b9efe-0354-4f85-affb-5d0057f11064 CLINVAR:694309 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd000c2f-2082-4d1c-be4f-195f99b81058 CA2586970245 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f45fe481-a8a0-427d-865d-939357ff7280 CA2586970245 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 700e360a-23fb-4997-8dc9-1ca7606aecfd CLINVAR:189869 biolink:causes MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 84099ea7-e934-41ba-8115-d326d28d2b72 CLINVAR:189869 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cca3fe0b-7ff7-4611-920f-5bc20891815c CLINVAR:373960 biolink:causes MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cb196fbd-a308-4e74-8f0e-3c8db8c89230 CLINVAR:373960 biolink:is_sequence_variant_of HGNC:10590 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 695da66f-51f5-4866-ae24-5072dd653923 CLINVAR:68689 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 57e03b98-de43-4315-82f9-aacd8a2680a7 CLINVAR:68689 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d495ae0-87b5-4b75-9222-15b6963638a9 CLINVAR:206852 biolink:causes MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 68f9bf16-7d2f-4a51-a1da-60dc3f4dabc7 CLINVAR:206852 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 936e6760-4cb8-4708-a517-3db036f878a3 CLINVAR:194555 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0c643be1-08b2-40ee-ada4-d79a0a925b07 CLINVAR:194555 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 376d5673-2d05-4ecc-8385-bbbfc9864512 CLINVAR:1478168 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen af2cadf8-7644-4bcf-9e8a-85b1c47855d6 CLINVAR:1478168 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc58b16d-75c9-4e5a-8bb0-36b6aede9341 CLINVAR:1342669 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 13a479fa-44c7-463b-9ce4-c2511f7eee6d CLINVAR:1342669 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 355fc24d-5d53-4ca3-83fc-b8986ac0912b CA343777244 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53d3495e-d86f-43f2-9969-063d125ba759 CA343777244 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd2dbb83-a6e7-4960-ba45-4f5c796ab0c4 CLINVAR:654211 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6cfbee88-c39b-4653-9a72-a8a3bc232d3a CLINVAR:654211 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a85ffc13-bb1a-48c9-8bcf-56d826182ae4 CLINVAR:18015 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e68832b9-795e-4915-84b8-304cea439d59 CLINVAR:18015 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20a920e1-f870-4a7a-bb7e-d1c486fdcd1e CLINVAR:870596 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c97af431-c185-4c53-9cb0-6e7393a4918f CA1251327 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c4f96e69-3a25-4103-9e2e-bf115a1e9e54 CA1251327 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01c9d680-6b36-43c6-af2f-315a5484ee77 CLINVAR:811513 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 83b6392b-406a-402f-9ac4-757636959dd1 CLINVAR:811513 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 933ea039-42f0-430c-b387-2ff939f4f117 CLINVAR:699299 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 00e0a9cd-699a-4978-8433-8e478bec77f0 CLINVAR:699299 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4100ea9-0b32-4183-8205-6af011cf82df CA414447224 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d96a956b-3e18-460e-9121-ec99346f7f1c CA414447224 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8051ee5e-2585-40a3-97f7-905c2601fb20 CLINVAR:9211 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d990e76c-fefb-4174-b032-f5be2085cdd9 CLINVAR:9211 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c814a5f3-7ac4-4342-9398-b8341e594d0f CLINVAR:972784 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c69665fb-a739-4f1a-afeb-8d6cf24418c4 CLINVAR:972784 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8040ddf-2733-469f-8dba-59f78b2ea3db CLINVAR:586016 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 13bd6f90-cc3c-410b-af1e-4d5b82244cee CLINVAR:586016 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f02d403-9169-4c6c-8034-1eec3b0d61df CLINVAR:549554 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b80f3f2-ba6b-47b2-b128-8d5a1fcd8b8f CLINVAR:549554 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e3391c5-790b-46e0-81ce-0ef69b4427d7 CLINVAR:435437 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e17b172a-3325-4f1b-9eef-142a79d15294 CLINVAR:435437 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e23e29df-5bed-4dac-aeb4-2806c1c62960 CLINVAR:493321 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48125761-257e-4171-9a3d-93f7f81f6674 CLINVAR:493321 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22083210-786b-4cc7-bd53-7c6788979c77 CLINVAR:520675 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f41da4dd-3cf7-46c3-a3d1-b70ab1f3d081 CLINVAR:520675 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8714c7c-eee5-4a5c-9aa7-2ff65e8c212e CLINVAR:488999 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 20d6117c-7467-4e5e-9899-525264d75785 CLINVAR:488999 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7a24772-593c-45c5-accb-17679c8edc17 CLINVAR:36354 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 26deb8ec-76f2-4d59-835b-85c6642880b4 CLINVAR:36354 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ec69d7b-b591-41e9-9057-d5acd9711c52 CA409106173 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 716e58fb-5e9d-4588-bf5b-3c71ccc90143 CA409106173 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cd23b4d-ff7a-4548-b68c-8659291b82cc CLINVAR:2580600 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f5c33acf-87a7-4cb9-98ba-f56bf018b36a CLINVAR:2580600 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd5526d2-20aa-44b3-b079-e31d00aaec83 CA409106718 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cb027236-5ee5-4d7d-9254-c17880ba57bd CA409106718 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5cc9d1e-bf9e-40e8-a03f-60ecbbe1d14f CLINVAR:36355 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b2f5d8e3-885e-4671-a632-1ffe3b714d09 CLINVAR:36355 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af1413b5-1aeb-4ab5-bcb1-3a51efdf4247 CA409106789 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5219572e-db7d-48e1-8dfa-78b8b944c2ea CA409106789 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04b52661-1121-474e-90f4-c22c2f6586be CA409106859 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3995c857-646f-4d15-831b-0d59e8198aa0 CA409106859 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b01a86b0-3767-4102-947f-535d33881da1 CLINVAR:397578 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cced4913-caba-43e1-82c7-fe1e59bfcee2 CLINVAR:397578 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cb0c2b1-3bdd-46d3-aedf-30aaaeea446a CA409106952 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e4f735de-29e9-4022-8dfb-45a442945056 CA409106952 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d409699-61f2-4e48-9152-9a59c94cc700 CA409106961 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 18fbd32e-f8e7-4699-8544-1a196acea0e3 CA409106961 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a4c49ae-b09c-4cd8-90b9-2703b8e0f9e8 CLINVAR:586020 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3bd899d7-2b57-4ed7-af54-aa1f6d4b45f7 CLINVAR:586020 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fba31a04-d368-4c3c-a625-ddcab12c043a CLINVAR:1186689 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen caea7c26-2c13-4453-a118-53e950334422 CLINVAR:1186689 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 797422a3-2ad9-43ab-92e4-08cef312ef05 CLINVAR:447520 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 35db7d8a-3aca-49da-87f4-6671df1e6f1e CLINVAR:447520 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac88757d-5c7a-476b-802a-53dbdae2a201 CA409107446 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dcf722db-d4d6-49ad-af05-da06d28261e0 CA409107446 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93c359f3-b64f-4aed-b656-b691239bf45e CLINVAR:870344 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c7a88626-7280-4a8b-b5d1-f349d108d4f4 CLINVAR:870344 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f547ca5-83da-4e90-a6b8-5811fa5daf84 CLINVAR:36720 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 90531cd7-cbd1-4ab0-bc6d-a830e9a87860 CLINVAR:36720 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54f26d29-8ced-48bc-9ac2-ba4cc654a3c3 CLINVAR:2163677 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 51c9cdcc-1241-4ffc-bfc1-e5df2545fe09 CLINVAR:2163677 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e1f22b6-7089-43d6-bffb-6da120b11250 CLINVAR:36716 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6031b841-2102-4774-8b5e-43c213b6b734 CLINVAR:36716 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1780ee47-cabe-48d9-9592-0687ccb0a5bc CLINVAR:857069 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 30b22450-6893-442b-908e-d4f0f4b048a2 CLINVAR:857069 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efc6bf93-9efc-44c9-84ed-990473bf5217 CLINVAR:281042 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 02a4c3e7-9829-4dbf-9f1e-cb81024c7699 CLINVAR:281042 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba7fef4f-e69f-4f1f-9304-79ddc3e50361 CLINVAR:370886 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2c8e8e1f-db5a-4f3a-abf2-ad0f8476745e CLINVAR:370886 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c1911e3-9fc5-4562-b341-01edc7ed7f66 CLINVAR:932843 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7ffb0016-dd06-4604-9393-5195c9c65156 CLINVAR:932843 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de6d192a-7fbb-4952-babd-222e8d20a122 CLINVAR:557676 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f3cd1bf7-6824-426b-a89a-6118bb2da592 CLINVAR:557676 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9173ead-c899-475c-923c-b63833c273eb CLINVAR:21024 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0efc4147-b7c7-4b2b-861b-dd7541128c6d CLINVAR:21024 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de4dc844-73d5-42c7-bdf2-e317ccc95a09 CLINVAR:197662 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 467e4f19-4fea-4e30-b9c6-578bb5360286 CLINVAR:197662 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f4d24d5-5ef7-4cfd-b6ff-1d6921161d27 CA415086302 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2575a615-2af1-433b-a900-b40566e8e660 CA415086302 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b36a669d-aef8-42aa-863c-0d09bc5aa16c CLINVAR:983782 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 89cac1d4-2263-43a7-bf83-f81ba7d6d679 CLINVAR:983782 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddb22353-9f31-4fcc-8798-7531895766eb CLINVAR:983781 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 180128e3-182d-4035-86bd-5421b16ea415 CLINVAR:983781 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c60cf7e-b064-4777-aafe-6bf51bf1328c CLINVAR:636917 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f39dab6b-b948-4985-99ae-69882e49c195 CLINVAR:636917 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e7d4252-8e46-4219-a867-07fd04a242d2 CLINVAR:1323112 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 70c1ff4f-cccb-4124-adc0-b40b32be5feb CLINVAR:1323112 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb5e81e6-4fdc-4ddd-ad37-20e4c0586052 CLINVAR:418451 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 30688282-9138-4acb-b13b-1a333b4c3a48 CLINVAR:418451 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27ad38b8-9590-437f-b9f7-55fb19d1bd23 CLINVAR:496900 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 257315b6-0d11-45bf-b0c3-06798222f333 CLINVAR:496900 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec897b60-9f34-4931-a4d2-9ead7cae0aa4 CLINVAR:450358 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen be0fb601-010d-4c30-8905-11cecdb4b64e CLINVAR:450358 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15ace395-06b4-41c2-af86-07098b57a4f2 CLINVAR:280954 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4850b5a2-51cf-4e15-961f-ab18da3e2d8c CLINVAR:280954 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92d66562-d7e4-4586-bebe-aa7c219b8600 CLINVAR:928930 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c3028332-4d9f-4b10-8b67-990974a7aaaa CLINVAR:928930 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1774c438-99c4-4bb8-bed2-4cdf996abf51 CLINVAR:285197 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5ab80f9-c9e0-4c39-bfb4-c70f12d045b2 CLINVAR:285197 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 662ac01b-d93e-433a-bcf9-39803bf248c7 CLINVAR:4023 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 12ff493a-9986-4d3f-90fb-6de8344bf9fb CLINVAR:4023 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29c6c5bd-8d98-4425-bb92-ad488e5061e6 CA400029324 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fa744f14-df9b-4469-b2b2-e177f25cfd66 CA400029324 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f8b14d5-578a-464e-9b2b-daa17f6c94bf CLINVAR:1803282 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 85f87222-8058-4036-b5c3-c2d4d9c3b051 CLINVAR:1803282 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbb6a091-19df-4726-a701-50bec62ca697 CA2759533408 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f2f3787a-0beb-4874-aa93-ee7eb6b7bdd3 CA2759533408 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6086ba7-8976-4ce0-a99a-1a725bfe8f39 CA2759533407 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 28f3251b-f262-4bf1-9613-58a3f5801d55 CA2759533407 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8112d578-ed68-49ec-8e81-dc21d5d204a4 CA8603562 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen baf8275c-5bae-49a4-a3ec-e0319d3789dc CA8603562 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 433d05fb-93d0-44ce-af04-8b2887b98d18 CA8623258 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1f0183ef-b259-4c24-8794-6e114626f5b6 CA8623258 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e655a0e4-7d0e-4c75-b734-2f754379e94d CA8622981 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 93721b6d-70b6-4f06-8b30-913d01203824 CA8622981 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a3fefa4-0330-4f48-8c7f-e88ef6972654 CLINVAR:627098 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb14bc70-3c6f-4ba5-9ace-4dbbdca610ed CLINVAR:627098 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b0a4056-15bc-447d-bf22-8cd27aa4c438 CA367401570 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5a3ba609-b224-4b4f-8872-64d4e34779b4 CA367401570 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fab8137b-9741-40a2-ab98-e07ea7d16faa CA367401572 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c12e54a3-3937-4a33-8d5b-dee1ced38da0 CA367401572 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02cdcd52-6f7c-48c8-9d4e-2fc471b9c6f3 CA2740099755 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6652351e-5049-49e8-9583-b63c1be45aed CA2740099755 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f02ccabb-a76f-4e98-be60-9ebf03b44cde CLINVAR:1700671 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4be64280-9ef5-4290-8591-2d7c0f3fb820 CLINVAR:1700671 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 213a9f65-5d42-438f-9016-8a06b3d17315 CLINVAR:994548 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d98b2e29-42b9-485f-9be2-a97f9df15647 CLINVAR:994548 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d69cfd8e-0dbe-449a-a72a-262d265c67bf CA386959402 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8e751811-69e9-4c09-aee2-66df9f818fa8 CA386959402 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b338fdd-20f7-4d66-80a4-ffdf8dd9c24d CA386959427 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 27a21766-416a-4cc7-967f-53d5bc994193 CA386959427 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 840e9116-2f04-41b7-ad8e-242853ae8d9b CA386959458 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cf7683ee-c6b8-4c66-ae0b-8f3fa7ef64ce CA386959458 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 065faf72-0339-4db3-a856-c5a3889c4229 CA386959470 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ad681259-9953-4582-87a5-61960319f494 CA386959470 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6f5262e-18ee-418a-9d4a-2d5fe8018974 CA386959497 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9f4edc2b-fb21-44b8-bb8c-d0a213496b6b CA386959497 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58922959-99dc-45ab-abdd-e7863b6401cb CA386964629 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3c0e95e4-9b6f-441f-8f73-ef887a36f9f3 CA386964629 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3d5b45d-a515-435e-8ae9-7f6e286fa842 CA386964662 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9fd9015b-0615-4570-8f25-1c39567705ee CA386964662 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a233fb37-b7f5-4b13-943a-b2734df56250 CLINVAR:2916089 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 19556150-e52e-4fbf-9a0d-ab382d79dfdb CLINVAR:2916089 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 591e4c71-e86d-4b67-a0c2-df685f5b3b83 CA409109837 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e003507-4c14-45bf-9eb5-a695398b6d4f CA409109837 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed6ddddc-4574-4716-8c6c-1333cd371c82 CA409109839 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c784db77-f543-4c04-b5f5-f8f175e59a7d CA409109839 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4832dee-7368-45f7-a463-9c2cb2964aae CA409103677 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 715e9b0e-90cb-4e1c-b5cb-e02e4a3baf5e CA409103677 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3db47f52-8bba-4c5b-a6ab-c29ebe64f01a CLINVAR:967164 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fdab7dc5-f5ef-40f4-9f8c-16a0ad39e21d CLINVAR:967164 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c06714db-bef1-452c-915b-e47c8643c844 CLINVAR:841399 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e243dbbe-d482-484b-b0d0-8590ad49afb1 CLINVAR:841399 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81817db7-cd66-4459-a8de-def260460743 CLINVAR:835256 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 26df0d6d-4fd4-4a1b-8405-187b6a3d9439 CLINVAR:835256 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e59a0ff3-0d2e-424a-b766-c5238caf0629 CLINVAR:2050660 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 612f3687-98b3-4ab1-a036-f3089b5c9b8d CLINVAR:2050660 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6a53521-9640-4421-a853-257a3c03fa0a CLINVAR:573475 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e623b9be-ad38-4c72-bbe1-66517a7cb0f0 CLINVAR:573475 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4937138e-7cb1-446a-b089-8cc98118a26f CLINVAR:940774 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0305ac96-4214-4a6f-9afc-8b905920b3a1 CLINVAR:940774 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8be38830-714a-4716-9bf2-7c0d5fecba22 CLINVAR:11703 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 55aa8e78-ee34-4397-a4f3-9fb0764438b9 CLINVAR:11703 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 060eb723-6c2f-4d09-971d-4d2bfa246520 CA2582129988 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d9efd6bc-e0bf-4c27-b2d5-d6ce5d469121 CA2582129988 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d01b5c3-51ad-4bf0-a1dd-780a438dc2cd CA415079038 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 41770dc0-f636-416e-a17d-18a026d1a317 CA415079038 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef314603-6995-430c-8891-cbdd99fd8e17 CA2582115911 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 50fece41-a98e-4e8c-ac03-932a839a1604 CA2582115911 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 491e288d-9b49-4945-bd34-db3bfa06d337 CA10549330 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 836d69bb-c1a5-4732-ba8d-39d08f078415 CA10549330 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6c6e75c-1580-4f9c-9af2-52249412a45d CA10549339 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5433dd26-eeda-4602-a437-4eb7ceeb3e88 CA10549339 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84da294e-96ac-4581-bcf5-81070a108303 CA10549367 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen efd26054-eac0-4cfa-bf31-a7329e3f0d9d CA10549367 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3955730-8eb2-4dfc-a2f9-443a697de909 CA415080522 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2c02870f-829f-41ae-928a-940f4c7abb5c CA415080522 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 224bb2ac-1e4f-4448-9e33-0b471d6c3f16 CLINVAR:410218 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 87a305b9-2f7f-49b5-bd44-5b8bddfab3bc CLINVAR:410218 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 820c87ec-8b67-4287-b8e5-2a1a1d10f225 CLINVAR:488696 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8d72aed3-d275-4850-833d-9430439af7d1 CLINVAR:488696 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 515288ff-3a2a-41ec-a3c0-b341c945130f CLINVAR:1066149 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 456759fe-e182-45a8-ac51-bd8d74634ecb CLINVAR:1066149 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c55055f8-5c9b-4077-b72a-0c0932a58fe7 CLINVAR:1305363 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 79774e45-819c-4e92-a7e5-fe77016fad08 CLINVAR:1305363 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b920d76-999d-48c7-9950-8148cf9dc211 CLINVAR:633275 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a628dafc-210f-4b76-a21a-6c948b47f8ed CLINVAR:633275 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b9c1582-0042-40f2-bc64-36734a251721 CLINVAR:1677132 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6c783534-af10-4175-87e9-f2b018ed993e CLINVAR:1677132 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c25c276-c883-4872-b614-5d944dbbca06 CLINVAR:9363 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c91360db-8ea0-4817-bf2a-9c03d8cc520f CLINVAR:9363 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c604eb44-3d06-4168-be13-49b0d5600a1e CLINVAR:9364 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a691509f-4efb-4951-8da9-d38bee29f9cf CLINVAR:9364 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7972de10-df4f-4edc-9c10-cf6ad3d0d8d8 CLINVAR:1708141 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 53bc7d3b-68b3-4084-a67c-cdccb62376cc CLINVAR:1708141 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6ce29b8-8768-4465-b3ca-5065c14a028f CLINVAR:968126 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71ad6ea1-dfeb-4c8f-bde4-b97ef0845d6c CLINVAR:968126 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9639fcf-36b0-48f6-9464-b1bc8f60daec CLINVAR:653423 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f193f98a-c88c-4c40-9d74-239c7d275b08 CLINVAR:653423 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da3a100a-b070-454e-b1af-5ccd230e8c03 CLINVAR:646928 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2293ecc7-985a-437b-aebc-0a730d2f735d CLINVAR:646928 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 992a9dea-60ad-457d-b88d-5e12f49deecc CLINVAR:576525 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 323809dd-abe9-4cfe-8265-66fbe8524513 CLINVAR:576525 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4494d715-106d-41f0-927b-c2f805bf5724 CLINVAR:647111 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7b07692b-2498-44d0-a37c-a5b2b1e994a8 CLINVAR:647111 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2e14791-8456-4a50-9fc5-8ca64d9ba22f CLINVAR:1022921 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 255a366f-664c-4535-b94b-da46ceb978d3 CLINVAR:1022921 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc54680d-3889-46bf-96ef-a7ce0ab2ae7d CLINVAR:299320 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd411b76-7d20-431e-9e73-3e9dd5ccf989 CLINVAR:299320 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d04686a4-b7c1-45e7-b753-1801d397088b CLINVAR:1042451 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 13e25fc4-ba91-4775-9878-46bbb179d42e CLINVAR:1042451 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 772f7702-d624-4c8e-9846-0664f15050f2 CLINVAR:288327 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2bdb2574-28dc-462b-ba35-f6e2cf6e2845 CLINVAR:288327 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef6953dc-0829-49ad-8210-e601ebf854a5 CLINVAR:1965651 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c8a16a83-2687-4827-9ca9-dbc9f86287af CLINVAR:1965651 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4553c3c9-deb1-42f3-b375-0e64c89cf7ce CLINVAR:666119 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba81f79a-35ab-4bb2-952c-d569151313ff CLINVAR:666119 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1f32b8a-53f3-4afe-96e6-4db72dc3aa82 CLINVAR:879948 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41cfcd0d-989d-4622-9c3c-91f551ca6e3d CLINVAR:879948 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4379e664-6f45-40aa-84f0-ea5ac9870785 CLINVAR:1511542 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad246200-174c-4768-b525-d2db05c3d9a5 CLINVAR:1511542 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d2c25a6-b139-4686-b66f-737396927262 CLINVAR:1013704 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc76855d-0d5a-42f1-be65-27084787e682 CLINVAR:1013704 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5507446e-aeeb-479e-b368-f7b56b770094 CLINVAR:879949 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7ebd8cad-4577-4161-aef8-0b617fce174b CLINVAR:879949 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a0f0220-dec1-4f14-8c5b-3bd024ecfd4c CLINVAR:1514295 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 30e02444-73d0-4d7b-89cb-799c139d4a80 CLINVAR:1514295 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 068da703-cbc2-4d8d-9e09-d41e97998b6d CLINVAR:648065 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 88fd04b6-971d-4bea-a106-2f0af8898e6e CLINVAR:648065 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f45955d1-e891-4243-a92b-020f928f4077 CLINVAR:1144398 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e7d5663f-532a-4936-bd69-84826016119c CLINVAR:1144398 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be1aa5dd-f09f-4304-9d57-2bf83cfcac76 CLINVAR:418656 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 56ddb591-4602-43df-a765-ca5ee91eca65 CLINVAR:418656 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20c33581-f9ec-4165-a50e-73b646d068de CLINVAR:2138599 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d56a790c-3f6b-458e-abe9-df6b4d609b03 CLINVAR:2138599 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6941927b-8d14-4525-a9d8-94c67d874dfd CLINVAR:1507904 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1ee61ad2-0a96-473c-93de-b5a8d1bd0042 CLINVAR:1507904 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34fb108b-143d-4485-beb1-edc90c89452b CLINVAR:1411137 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 61f9c856-97ce-4638-b192-39105978d0c6 CLINVAR:1411137 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 029d0569-d8ec-44a8-bfb0-211cfb6df9f5 CLINVAR:463384 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 188d2070-fd2f-405e-ab76-9cd6379ac9c4 CLINVAR:463384 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 908ff99b-c1c8-4f07-aee6-c51726f118e3 CLINVAR:36388 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ff5cc270-e3f2-477e-bef4-c9a4fb6c2c4b CLINVAR:36388 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df502a72-512b-4998-9264-e71ede588f5f CLINVAR:503682 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 980848c5-1989-40e0-92b2-3270fe43ee64 CLINVAR:503682 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d47a41a-5d49-48bc-aeaa-bdbc6111e4ed CLINVAR:1172577 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c89e4801-dd4b-4755-944e-47a6085ab32c CLINVAR:1172577 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f292fbe-a1a8-4d3c-9400-7fb1420cacad CLINVAR:1066837 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d098cc04-97d6-4121-8158-c018f98038cd CLINVAR:1066837 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52ac517e-ea35-4f29-beab-6a6e1dd06d92 CLINVAR:463378 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ac5e2616-ae88-4346-8a91-b753349ba537 CLINVAR:463378 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 482ecf57-480f-48fb-a659-4dc6d58f99c9 CLINVAR:624606 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e715ff9b-190c-4f5c-af47-a7092efb1490 CLINVAR:624606 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51855a3e-aadd-46f1-b99e-1c725c4cbafe CLINVAR:955439 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21d08758-1a60-4687-a8ae-9978e159e263 CLINVAR:955439 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 358b1c8a-8fb5-46a6-95e3-457a6442969e CLINVAR:449383 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2cfbf4c2-d367-4027-9776-7ca5fa8853b0 CLINVAR:449383 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee65b6c2-bb3b-4f5d-9781-772d4ba5b19f CLINVAR:353268 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 90ce7b45-ff97-4d4f-a27c-443c26d64b0d CLINVAR:353268 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 801f1da4-b995-4e5d-9fff-bab1b3d4effe CLINVAR:418257 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6fb1f719-34ec-4355-b347-1db8b99ce942 CLINVAR:418257 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07abd4f2-ecf8-4aa7-ac98-1c2fe8b2d78b CLINVAR:1393864 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5d697b13-51ea-4e41-ac59-8cd61091723b CLINVAR:1393864 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03386fa6-034b-40b2-8bd9-c14226ec2692 CLINVAR:555727 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 461588e2-58ae-4cfb-bd41-601a4edf402f CLINVAR:555727 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a5fe991-0fbf-417c-98f2-41499a3459a4 CLINVAR:1901446 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5d587ad6-e334-473c-91c2-b1632e7a3a35 CLINVAR:1901446 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fc80232-8c42-4817-bc92-ea2ac75409b8 CLINVAR:444650 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 87163d3d-1471-4e4e-89e4-faf911352669 CLINVAR:444650 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efe5cbb7-ca60-4c54-a8fa-ba3fb8f9caf3 CLINVAR:1068066 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4d9c3242-d871-47d0-94f4-080290013846 CLINVAR:1068066 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea8489b5-37c0-43da-9fb6-379ecf51a439 CA1139771069 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ebb5eb4b-07f9-4233-8a1b-9d02c7a89ad5 CA1139771069 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00c9e6b2-bf55-4b3d-a48d-095da27842fe CA1139771060 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 64f5b502-f605-45e5-b916-aa116fb03225 CA1139771060 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53b69f99-d2d5-4106-b415-db5e576a5d26 CLINVAR:2820100 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d7573a05-2807-43b8-8d51-66bfa598014b CLINVAR:2820100 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20065c68-4f9b-4249-b8b3-a4f8d1bdf053 CLINVAR:1710503 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cb1f4ea0-d4f1-4496-8eb1-421da60996d6 CLINVAR:1710503 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5b4703f-26f1-4f83-92d6-4008e131560a CLINVAR:1484777 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5ca3129b-754f-4301-91a2-f488dfb8d718 CLINVAR:1484777 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7dbc347-0291-4858-9525-2084e87d4dd6 CA2695237935 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6d110276-7648-4398-a397-5b0764323850 CA2695237935 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed4ce4d3-fada-44ac-8edc-b80f9d6c742d CLINVAR:561109 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c33aefd3-a709-4cd9-9119-2090555e4b69 CLINVAR:561109 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f20fc039-eca3-422d-a341-f4a9e84a98e5 CA415086032 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4069634d-d467-4e82-a45a-023fffd3cc01 CA415086032 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 002221d6-7a6b-42f2-9064-5a41d4ab4d2a CA2579916736 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75fd23ec-ebb6-44a8-8674-d5a098760111 CA2579916736 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67c69580-c63b-4163-bee8-eb3c3fb2b07a CLINVAR:428806 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 77fbf87a-4338-488e-a168-8be5395a5258 CLINVAR:428806 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e6fc099-b8fc-431c-a9c1-475d4ed23341 CLINVAR:223171 biolink:associated_with_increased_likelihood_of MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1f964116-5956-4482-917a-4d3cdf60ce66 CLINVAR:223171 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f97d7dee-5f37-4028-a477-4f5a78cb4847 CLINVAR:526679 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b2f90b5d-9df1-4952-878f-76dd9ba66c22 CLINVAR:526679 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a1742ed-4464-4ecd-9e12-1f3fed806475 CLINVAR:526673 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a54395c-bcc2-4380-ac97-5f2d8685367a CLINVAR:526673 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4d78e0d-f545-4fa2-a235-d22870c95138 CLINVAR:43597 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c7302284-0a37-4852-8368-5151a6bb8cd9 CLINVAR:43597 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32c1396c-e646-4310-b66e-7dfade37127c CLINVAR:560745 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 49b9c45b-d79c-4be8-8245-29917a9271ad CLINVAR:560745 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 397c9029-7983-42ef-a9b7-612e1090f5a9 CLINVAR:2225 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6bbd1e77-778e-4257-9bc0-6300c4db44e5 CLINVAR:2225 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f74f9a0-4a6d-4d0c-adcd-9e9d083527db CLINVAR:440404 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c8b82b6-02ad-4d23-923f-2deb1ea6ff07 CLINVAR:440404 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 424b3dfd-7d0e-405a-b011-13ef25256184 CLINVAR:196284 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cc17b89f-4c72-439f-8533-e4585a3521ae CLINVAR:196284 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b36708c-014c-4581-9d0a-ff6df7186c0f CLINVAR:428794 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e9bd03d-31d7-4743-83ed-fde5771f5be7 CLINVAR:428794 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85310035-9bce-4d85-82f4-2114ea26645d CLINVAR:2216 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1c8ffd2c-b4da-47cb-be01-f2941b6c717c CLINVAR:2216 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83136d7f-eaf2-480a-837c-988e63f0ad82 CLINVAR:182959 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 81666621-ae49-490b-b3ec-0a9d972491f1 CLINVAR:182959 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57b5e4ba-eae0-48e8-b23b-e3b024b22980 CLINVAR:411979 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9b8556b9-e251-46ae-b080-a8fc9ed61efd CLINVAR:411979 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 060e8d0a-00e5-474c-b1d8-8b3d6fb92aca CLINVAR:43601 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 91a56b0d-95d2-4df5-ac9b-908315b1a661 CLINVAR:43601 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0cfef85-635f-49da-9fb2-4af0c2eaee10 CLINVAR:141044 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 047e849f-a229-42a4-a036-65e40a100ebf CLINVAR:141044 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d90a099-3cc5-4e0d-b459-04375e2acc0d CLINVAR:223194 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e3bbfe79-b777-4265-8649-cba75890e31f CLINVAR:223194 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b3e2b21-436c-4568-8564-9dbdad80405e CLINVAR:411994 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 70508220-4a06-4d19-8343-1913f1036285 CLINVAR:411994 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baecdd1c-a3fc-425b-bec4-b20aadbbff6c CLINVAR:411978 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c1a70f79-c0e5-4787-8e6e-18b6261035ec CLINVAR:411978 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c92c434-2ab1-4ee6-8744-d23f46f385e4 CLINVAR:182977 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 783bda32-8cca-4ef5-a756-0a9984046508 CLINVAR:182977 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f87134a7-863e-4d1d-8dd0-0d823c7c0761 CLINVAR:93326 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2cad6e72-aea7-4406-8e22-f08021ebe7dc CLINVAR:93326 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24977ee9-f0e1-4fa9-995e-8426cae8ecce CLINVAR:941841 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2923d634-1149-4a01-90bb-6903d7c5add9 CLINVAR:941841 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43e56f8f-90a7-4899-ae81-39f7618c2fcf CLINVAR:655729 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c0615e73-a07b-4a67-bc64-64ea2084498e CLINVAR:655729 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24671e31-fa62-47c0-8519-e3ba1dc59b1a CLINVAR:378124 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b18a728-5dfa-4e38-86a5-bba2533b0d7c CLINVAR:378124 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4b22676-df18-46b2-a65c-72e35723bb8a CA2582115078 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b7b2eda-150a-4bb5-ba65-2d98756662a0 CA2582115078 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e17d607f-d97c-4c52-8baa-38678d6fdc43 CLINVAR:1391239 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b23f54ea-06d0-4317-9bf5-af213f1ab742 CLINVAR:1391239 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd836fed-e74b-4d32-909c-46a107f07fcf CLINVAR:1334161 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c27b5aea-c036-4518-a93d-92f3d8ad7a08 CLINVAR:1334161 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 792ff18a-be26-4568-af13-db483f57a156 CLINVAR:438620 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c0c5e68b-1300-4d5b-bfb0-07c75f9645ed CLINVAR:438620 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen